ClinGen Mitochondrial Disease Expert Panel (ClinGen Mito GCEP), Leigh and Leigh-Like Syndrome Gene-Disease Curation Progress
Gene | Gene-Disease Record | Status | Creation Date |
SDHAF1 | Leigh syndrome– Autosomal recessive inheritance | IN PROGRESS | 2019 Dec 08, 3:21 pm |
LRPPRC | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 Dec 06, 5:38 am |
NARS2 | Leigh syndrome– Autosomal recessive inheritance | IN PROGRESS | 2019 Dec 05, 9:39 am |
NUBPL | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 Nov 14, 2:17 pm |
NDUFS8 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Nov 12, 5:32 am |
IARS2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Nov 05, 12:54 pm |
GFM1 | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 Nov 02, 7:01 pm |
FOXRED1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Oct 10, 10:15 am |
NDUFV1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Oct 09, 9:10 am |
NDUFV2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Oct 09, 7:55 am |
GFM2 | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 Oct 01, 10:05 am |
TACO1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Oct 01, 7:07 am |
NDUFS2 | Leigh syndrome– Autosomal recessive inheritance | None | 2019 Sep 26, 12:30 am |
UQCRQ | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 25, 6:42 am |
NDUFS7 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 24, 1:39 am |
NDUFA9 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 23, 3:45 am |
NDUFA10 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 19, 5:16 am |
NDUFAF5 | Leigh syndrome– Autosomal recessive inheritance | None | 2019 Sep 18, 9:55 am |
NDUFA12 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 18, 12:08 am |
FARS2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 10, 7:35 am |
BCS1L | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Sep 05, 1:13 pm |
TTC19 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Aug 01, 7:05 am |
NUP62 | Leigh syndrome– Autosomal recessive inheritance | None | 2019 Jun 10, 2:25 pm |
LIPT1 | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 Jun 10, 10:59 am |
PTCD3 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 May 08, 6:51 am |
PET117 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 May 07, 6:39 pm |
ECHS1 | Leigh syndrome– Autosomal recessive inheritance | PROVISIONAL | 2019 May 02, 10:47 am |
SDHA | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Apr 29, 10:03 am |
PET100 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Apr 29, 9:55 am |
MT-ATP6 | Leigh syndrome– Mitochondrial inheritance | None | 2019 Apr 23, 1:22 pm |
COX15 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Apr 15, 9:31 am |
COX10 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Apr 08, 1:07 pm |
SUCLA2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Apr 08, 6:10 am |
SUCLG1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Mar 28, 2:42 pm |
SCO2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Mar 27, 11:45 am |
NDUFA2 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Mar 13, 10:45 am |
NDUFS3 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Mar 12, 9:39 am |
NDUFS1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Feb 28, 11:49 am |
NDUFA1 | Leigh syndrome– X-linked inheritance | APPROVED, PUBLISHED | 2019 Feb 11, 10:45 am |
PDHA1 | Leigh syndrome– X-linked inheritance | APPROVED, PUBLISHED | 2019 Jan 18, 12:57 pm |
NDUFS4 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2019 Jan 02, 11:33 am |
ETHE1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2018 Dec 31, 11:05 am |
POLG | Leigh syndrome– Autosomal recessive inheritance | IN PROGRESS | 2018 Nov 15, 11:47 am |
SLC19A3 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2018 Nov 14, 11:14 am |
SURF1 | Leigh syndrome– Autosomal recessive inheritance | APPROVED, PUBLISHED | 2018 Oct 11, 10:08 am |
USMG5 | Leigh syndrome– Autosomal recessive inheritance | None | 2018 Oct 11, 9:15 am |
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