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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 Categories: MSeqDr.org News, updates, media report
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