U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen | MSeqDR- the Mitochondrial Disease Sequence Data Resource Consortium

U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen

April 29, 2020 Dr. Lishuang SHEN 0

Gene-Disease records created by the U24 Mitochondrial Diseases Expert Panel

Gene	Disease	Inheritance	Gene-Disease-Inheritance	Status	Creation Date
CLPB	Leigh syndrome	Autosomal recessive inheritance	CLPB–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Apr 16, 1:15 pm
RANBP2	Leigh syndrome	Autosomal dominant inheritance	RANBP2–Leigh syndrome–Autosomal dominant inheritance	PROVISIONAL	2020 Apr 14, 10:21 pm
SLC25A19	Leigh syndrome	Autosomal recessive inheritance	SLC25A19–Leigh syndrome–Autosomal recessive inheritance	None	2020 Apr 08, 10:07 am
FBXL4	Leigh syndrome	Autosomal recessive inheritance	FBXL4–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Mar 24, 9:42 am
ADAR	Leigh syndrome	Autosomal recessive inheritance	ADAR–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Mar 20, 10:52 am
NDUFAF2	Leigh syndrome	Autosomal recessive inheritance	NDUFAF2–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Feb 27, 5:34 am
EARS2	Leigh syndrome	Autosomal recessive inheritance	EARS2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Feb 25, 1:05 pm
TIMMDC1	Leigh syndrome	Autosomal recessive inheritance	TIMMDC1–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Feb 25, 8:56 am
DLD	Leigh syndrome	Autosomal recessive inheritance	DLD–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Feb 11, 4:16 am
TRMU	Leigh syndrome	Autosomal recessive inheritance	TRMU–Leigh syndrome–Autosomal recessive inheritance	IN PROGRESS	2020 Feb 11, 12:41 am
PNPT1	Leigh syndrome	Autosomal recessive inheritance	PNPT1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Feb 10, 3:47 am
NDUFAF6	Leigh syndrome	Autosomal recessive inheritance	NDUFAF6–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2020 Jan 20, 5:39 pm
GTPBP3	Leigh syndrome	Autosomal recessive inheritance	GTPBP3–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Jan 13, 2:23 am
MTFMT	Leigh syndrome	Autosomal recessive inheritance	MTFMT–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Jan 09, 11:53 pm
NDUFAF4	Leigh syndrome	Autosomal recessive inheritance	NDUFAF4–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Jan 07, 12:33 pm
TSFM	Leigh syndrome	Autosomal recessive inheritance	TSFM–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2020 Jan 06, 11:37 am
SDHAF1	Leigh syndrome	Autosomal recessive inheritance	SDHAF1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Dec 08, 3:21 pm
LRPPRC	Leigh syndrome	Autosomal recessive inheritance	LRPPRC–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Dec 06, 5:38 am
NARS2	Leigh syndrome	Autosomal recessive inheritance	NARS2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Dec 05, 9:39 am
NUBPL	Leigh syndrome	Autosomal recessive inheritance	NUBPL–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Nov 14, 2:17 pm
NDUFS8	Leigh syndrome	Autosomal recessive inheritance	NDUFS8–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Nov 12, 5:32 am
IARS2	Leigh syndrome	Autosomal recessive inheritance	IARS2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Nov 05, 12:54 pm
GFM1	Leigh syndrome	Autosomal recessive inheritance	GFM1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Nov 02, 7:01 pm
FOXRED1	Leigh syndrome	Autosomal recessive inheritance	FOXRED1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Oct 10, 10:15 am
NDUFV1	Leigh syndrome	Autosomal recessive inheritance	NDUFV1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Oct 09, 9:10 am
NDUFV2	Leigh syndrome	Autosomal recessive inheritance	NDUFV2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Oct 09, 7:55 am
GFM2	Leigh syndrome	Autosomal recessive inheritance	GFM2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Oct 01, 10:05 am
TACO1	Leigh syndrome	Autosomal recessive inheritance	TACO1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Oct 01, 7:07 am
NDUFS2	Leigh syndrome	Autosomal recessive inheritance	NDUFS2–Leigh syndrome–Autosomal recessive inheritance	None	2019 Sep 26, 12:30 am
UQCRQ	Leigh syndrome	Autosomal recessive inheritance	UQCRQ–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 25, 6:42 am
NDUFS7	Leigh syndrome	Autosomal recessive inheritance	NDUFS7–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 24, 1:39 am
NDUFA9	Leigh syndrome	Autosomal recessive inheritance	NDUFA9–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 23, 3:45 am
NDUFA10	Leigh syndrome	Autosomal recessive inheritance	NDUFA10–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 19, 5:16 am
NDUFAF5	Leigh syndrome	Autosomal recessive inheritance	NDUFAF5–Leigh syndrome–Autosomal recessive inheritance	None	2019 Sep 18, 9:55 am
NDUFA12	Leigh syndrome	Autosomal recessive inheritance	NDUFA12–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 18, 12:08 am
FARS2	Leigh syndrome	Autosomal recessive inheritance	FARS2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 10, 7:35 am
BCS1L	Leigh syndrome	Autosomal recessive inheritance	BCS1L–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Sep 05, 1:13 pm
TTC19	Leigh syndrome	Autosomal recessive inheritance	TTC19–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Aug 01, 7:05 am
NUP62	Leigh syndrome	Autosomal recessive inheritance	NUP62–Leigh syndrome–Autosomal recessive inheritance	None	2019 Jun 10, 2:25 pm
LIPT1	Leigh syndrome	Autosomal recessive inheritance	LIPT1–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2019 Jun 10, 10:59 am
PTCD3	Leigh syndrome	Autosomal recessive inheritance	PTCD3–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 May 08, 6:51 am
PET117	Leigh syndrome	Autosomal recessive inheritance	PET117–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 May 07, 6:39 pm
ECHS1	Leigh syndrome	Autosomal recessive inheritance	ECHS1–Leigh syndrome–Autosomal recessive inheritance	PROVISIONAL	2019 May 02, 10:47 am
SDHA	Leigh syndrome	Autosomal recessive inheritance	SDHA–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Apr 29, 10:03 am
PET100	Leigh syndrome	Autosomal recessive inheritance	PET100–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Apr 29, 9:55 am
MT-ATP6	Leigh syndrome	Mitochondrial inheritance	MT-ATP6–Leigh syndrome–Mitochondrial inheritance	None	2019 Apr 23, 1:22 pm
COX15	Leigh syndrome	Autosomal recessive inheritance	COX15–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Apr 15, 9:31 am
COX10	Leigh syndrome	Autosomal recessive inheritance	COX10–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Apr 08, 1:07 pm
SUCLA2	Leigh syndrome	Autosomal recessive inheritance	SUCLA2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Apr 08, 6:10 am
SUCLG1	Leigh syndrome	Autosomal recessive inheritance	SUCLG1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Mar 28, 2:42 pm
SCO2	Leigh syndrome	Autosomal recessive inheritance	SCO2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Mar 27, 11:45 am
NDUFA2	Leigh syndrome	Autosomal recessive inheritance	NDUFA2–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Mar 13, 10:45 am
NDUFS3	Leigh syndrome	Autosomal recessive inheritance	NDUFS3–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Mar 12, 9:39 am
NDUFS1	Leigh syndrome	Autosomal recessive inheritance	NDUFS1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Feb 28, 11:49 am
NDUFA1	Leigh syndrome	X-linked inheritance	NDUFA1–Leigh syndrome–X-linked inheritance	APPROVEDPUBLISHED	2019 Feb 11, 10:45 am
PDHA1	Leigh syndrome	X-linked inheritance	PDHA1–Leigh syndrome–X-linked inheritance	APPROVEDPUBLISHED	2019 Jan 18, 12:57 pm
NDUFS4	Leigh syndrome	Autosomal recessive inheritance	NDUFS4–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2019 Jan 02, 11:33 am
ETHE1	Leigh syndrome	Autosomal recessive inheritance	ETHE1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2018 Dec 31, 11:05 am
POLG	Leigh syndrome	Autosomal recessive inheritance	POLG–Leigh syndrome–Autosomal recessive inheritance	IN PROGRESS	2018 Nov 15, 11:47 am
SLC19A3	Leigh syndrome	Autosomal recessive inheritance	SLC19A3–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2018 Nov 14, 11:14 am
SURF1	Leigh syndrome	Autosomal recessive inheritance	SURF1–Leigh syndrome–Autosomal recessive inheritance	APPROVEDPUBLISHED	2018 Oct 11, 10:08 am
ATP5MD	Leigh syndrome	Autosomal recessive inheritance	ATP5MD–Leigh syndrome–Autosomal recessive inheritance	None	2018 Oct 11, 9:15 am
MRPS34	Leigh syndrome	Autosomal recessive inheritance	MRPS34–Leigh syndrome–Autosomal recessive inheritance	IN PROGRESS	2018 Jun 20, 7:14 am

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