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Mendeliome v0.12379 TAMM41 Bryony Thompson Marked gene: TAMM41 as ready
Mendeliome v0.12379 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mendeliome v0.12379 TAMM41 Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
Mendeliome v0.12379 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mendeliome v0.12378 TAMM41 Bryony Thompson gene: TAMM41 was added
gene: TAMM41 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAMM41 were set to 35321494; 29253589
Phenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis
Review for gene: TAMM41 was set to GREEN
Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption.
Sources: Literature
Mendeliome v0.12377 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from to Mental retardation, autosomal recessive 48, MIM# 616269
Mendeliome v0.12376 SLC6A17 Zornitza Stark Publications for gene: SLC6A17 were set to
Mendeliome v0.12375 SLC6A17 Zornitza Stark Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12374 SLC6A17 Zornitza Stark Classified gene: SLC6A17 as Amber List (moderate evidence)
Mendeliome v0.12374 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12373 SLC6A17 Zornitza Stark reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12373 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Mendeliome v0.12373 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Mendeliome v0.12373 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Mendeliome v0.12372 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12371 BNIP1 Bryony Thompson Marked gene: BNIP1 as ready
Mendeliome v0.12371 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12371 BNIP1 Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence)
Mendeliome v0.12371 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12370 BNIP1 Bryony Thompson gene: BNIP1 was added
gene: BNIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BNIP1 were set to 35266227; 31344970
Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761
Review for gene: BNIP1 was set to AMBER
Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation.
Sources: Literature
Mendeliome v0.12369 EIF4E Bryony Thompson Marked gene: EIF4E as ready
Mendeliome v0.12369 EIF4E Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
Mendeliome v0.12369 EIF4E Bryony Thompson Phenotypes for gene: EIF4E were changed from to {Autism, susceptibility to, 19} MIM#615091
Mendeliome v0.12368 EIF4E Bryony Thompson Publications for gene: EIF4E were set to
Mendeliome v0.12367 EIF4E Bryony Thompson Classified gene: EIF4E as Red List (low evidence)
Mendeliome v0.12367 EIF4E Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
Mendeliome v0.12366 EIF4E Bryony Thompson reviewed gene: EIF4E: Rating: RED; Mode of pathogenicity: None; Publications: 19556253, 23263185, 23172145; Phenotypes: {Autism, susceptibility to, 19} MIM#615091; Mode of inheritance: Unknown
Mendeliome v0.12366 TLL1 Zornitza Stark Marked gene: TLL1 as ready
Mendeliome v0.12366 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Mendeliome v0.12366 TLL1 Zornitza Stark Phenotypes for gene: TLL1 were changed from Atrial septal defect to Atrial septal defect 6, MIM# 613087
Mendeliome v0.12365 TLL1 Zornitza Stark reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 6, MIM# 613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12365 TK2 Zornitza Stark Marked gene: TK2 as ready
Mendeliome v0.12365 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Mendeliome v0.12365 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; MIM# 617069
Mendeliome v0.12364 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mendeliome v0.12363 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Mendeliome v0.12362 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Mendeliome v0.12362 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748
Mendeliome v0.12361 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Mendeliome v0.12360 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12359 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12359 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Mendeliome v0.12359 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Mendeliome v0.12359 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from to Sorsby fundus dystrophy, MIM# 136900
Mendeliome v0.12358 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Mendeliome v0.12357 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12356 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12356 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mendeliome v0.12356 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mendeliome v0.12356 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mendeliome v0.12355 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mendeliome v0.12354 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM44 Zornitza Stark Marked gene: TIMM44 as ready
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12353 TIMM44 Zornitza Stark Classified gene: TIMM44 as Red List (low evidence)
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12352 TIMM44 Zornitza Stark reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12352 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Mendeliome v0.12352 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Mendeliome v0.12352 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Mendeliome v0.12351 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Mendeliome v0.12350 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22105173, 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TTBK2 Zornitza Stark Marked gene: TTBK2 as ready
Mendeliome v0.12349 TTBK2 Zornitza Stark Gene: ttbk2 has been classified as Green List (High Evidence).
Mendeliome v0.12349 TTBK2 Zornitza Stark Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464
Mendeliome v0.12348 TTBK2 Zornitza Stark Publications for gene: TTBK2 were set to
Mendeliome v0.12347 TTBK2 Zornitza Stark Mode of inheritance for gene: TTBK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTBK2 Zornitza Stark reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301723; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTLL5 Zornitza Stark Marked gene: TTLL5 as ready
Mendeliome v0.12346 TTLL5 Zornitza Stark Gene: ttll5 has been classified as Green List (High Evidence).
Mendeliome v0.12346 TTLL5 Zornitza Stark Phenotypes for gene: TTLL5 were changed from to Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372
Mendeliome v0.12345 TTLL5 Zornitza Stark Publications for gene: TTLL5 were set to
Mendeliome v0.12344 TTLL5 Zornitza Stark Mode of inheritance for gene: TTLL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12343 TTR Zornitza Stark Marked gene: TTR as ready
Mendeliome v0.12343 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Mendeliome v0.12343 TTR Zornitza Stark Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430
Mendeliome v0.12342 TTR Zornitza Stark Publications for gene: TTR were set to
Mendeliome v0.12341 TTR Zornitza Stark Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12340 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12339 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure to Leukoencephalopathy with vanishing white matter, MIM# 603896; leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12338 PADI6 Zornitza Stark Marked gene: PADI6 as ready
Mendeliome v0.12338 PADI6 Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence).
Mendeliome v0.12338 PADI6 Zornitza Stark Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole
Mendeliome v0.12337 PADI6 Zornitza Stark Publications for gene: PADI6 were set to
Mendeliome v0.12336 PADI6 Zornitza Stark Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12335 PADI3 Zornitza Stark Marked gene: PADI3 as ready
Mendeliome v0.12335 PADI3 Zornitza Stark Gene: padi3 has been classified as Green List (High Evidence).
Mendeliome v0.12335 PADI3 Zornitza Stark Phenotypes for gene: PADI3 were changed from to Uncombable hair syndrome - MIM#191480
Mendeliome v0.12334 PADI3 Zornitza Stark Publications for gene: PADI3 were set to
Mendeliome v0.12333 PADI3 Zornitza Stark Mode of inheritance for gene: PADI3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12332 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Mendeliome v0.12332 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Mendeliome v0.12332 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
Mendeliome v0.12331 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Mendeliome v0.12330 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12329 PABPN1 Zornitza Stark Marked gene: PABPN1 as ready
Mendeliome v0.12329 PABPN1 Zornitza Stark Gene: pabpn1 has been classified as Green List (High Evidence).
Mendeliome v0.12329 PABPN1 Zornitza Stark Phenotypes for gene: PABPN1 were changed from to Oculopharyngeal muscular dystrophy - MIM#164300
Mendeliome v0.12328 PABPN1 Zornitza Stark Publications for gene: PABPN1 were set to
Mendeliome v0.12327 PABPN1 Zornitza Stark Tag STR tag was added to gene: PABPN1.
Mendeliome v0.12327 PABPN1 Zornitza Stark Mode of inheritance for gene: PABPN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12326 AGK Zornitza Stark Marked gene: AGK as ready
Mendeliome v0.12326 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Mendeliome v0.12326 AGK Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Mendeliome v0.12325 AGK Zornitza Stark Publications for gene: AGK were set to
Mendeliome v0.12324 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTBK2 Manny Jacobs reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18037885, 31485862, 20667868, 27165044; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12323 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Mendeliome v0.12323 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Mendeliome v0.12323 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTR Manny Jacobs reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:1570831, 1626570, 16115295, 16194874, 26537620; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM #105210, Carpal tunnel syndrome, familial, MIM# 115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12323 EIF2B5 Bryony Thompson Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12322 EIF2B5 Bryony Thompson Publications for gene: EIF2B5 were set to
Mendeliome v0.12321 P3H2 Zornitza Stark Marked gene: P3H2 as ready
Mendeliome v0.12321 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Mendeliome v0.12321 P3H2 Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Mendeliome v0.12320 P3H2 Zornitza Stark Publications for gene: P3H2 were set to
Mendeliome v0.12319 P3H2 Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12318 ADRB2 Zornitza Stark Mode of inheritance for gene: ADRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12317 EIF2B5 Bryony Thompson Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12316 AKT3 Elena Savva Marked gene: AKT3 as ready
Mendeliome v0.12316 AKT3 Elena Savva Gene: akt3 has been classified as Green List (High Evidence).
Mendeliome v0.12316 EIF2B5 Bryony Thompson reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 11704758, 12325082, 12707859, 14694060, 15136689, 18263758, 25843247, 25761052; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12316 EIF2B4 Bryony Thompson Marked gene: EIF2B4 as ready
Mendeliome v0.12316 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Mendeliome v0.12316 EIF2B5 Bryony Thompson Deleted their review
Mendeliome v0.12316 AKT3 Elena Savva Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Mendeliome v0.12316 AKT3 Elena Savva Publications for gene: AKT3 were set to
Mendeliome v0.12315 AKT3 Elena Savva Mode of pathogenicity for gene: AKT3 was changed from to Other
Mendeliome v0.12315 AKT3 Elena Savva Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12314 AKT3 Elena Savva reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22729224; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12314 EIF2B4 Bryony Thompson Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12313 EIF2B4 Bryony Thompson Publications for gene: EIF2B4 were set to
Mendeliome v0.12312 EIF2B4 Bryony Thompson Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12311 EIF2B4 Bryony Thompson reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 12707859, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12311 EIF2B4 Bryony Thompson Deleted their review
Mendeliome v0.12311 EIF2B3 Bryony Thompson Marked gene: EIF2B3 as ready
Mendeliome v0.12311 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Mendeliome v0.12311 AFP Zornitza Stark Marked gene: AFP as ready
Mendeliome v0.12311 AFP Zornitza Stark Added comment: Comment when marking as ready: Raised or low levels of AFP are observed in some medical conditions, kept Amber due to possible phenotypic overlap.
Mendeliome v0.12311 AFP Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12311 AFP Zornitza Stark Phenotypes for gene: AFP were changed from to Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970
Mendeliome v0.12310 AFP Zornitza Stark Publications for gene: AFP were set to
Mendeliome v0.12309 AFP Zornitza Stark Mode of inheritance for gene: AFP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12308 AFP Zornitza Stark Classified gene: AFP as Amber List (moderate evidence)
Mendeliome v0.12308 AFP Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12307 EIF2B3 Bryony Thompson Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
Mendeliome v0.12306 EIF2B3 Bryony Thompson Publications for gene: EIF2B3 were set to
Mendeliome v0.12305 EIF2B3 Bryony Thompson Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12304 EIF2B3 Bryony Thompson reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12304 CA12 Ain Roesley changed review comment from: Glu143Lys found in 4 Israeli Bedouin families

2 other unrelated families reported with 1 missense (LoF demosntrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD); to: Glu143Lys found in 4 Israeli Bedouin families

2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD)
Mendeliome v0.12304 EIF2B3 Bryony Thompson Deleted their review
Mendeliome v0.12304 AHCY Elena Savva Marked gene: AHCY as ready
Mendeliome v0.12304 AHCY Elena Savva Gene: ahcy has been classified as Green List (High Evidence).
Mendeliome v0.12304 AHCY Elena Savva Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Mendeliome v0.12304 AHCY Elena Savva Publications for gene: AHCY were set to
Mendeliome v0.12303 AHCY Elena Savva Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12302 EIF2B1 Bryony Thompson Marked gene: EIF2B1 as ready
Mendeliome v0.12302 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12302 AGL Elena Savva Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM#232400
Mendeliome v0.12302 AGL Elena Savva Marked gene: AGL as ready
Mendeliome v0.12302 AGL Elena Savva Gene: agl has been classified as Green List (High Evidence).
Mendeliome v0.12302 AGL Elena Savva Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12301 EIF2B1 Bryony Thompson Phenotypes for gene: EIF2B1 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
Mendeliome v0.12300 EIF2B1 Bryony Thompson Publications for gene: EIF2B1 were set to
Mendeliome v0.12299 EIF2B1 Bryony Thompson Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12298 EIF2B1 Bryony Thompson reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 26285592, 15776425, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380, ataxia, spasticity, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12298 EIF2B1 Bryony Thompson Deleted their review
Mendeliome v0.12298 EIF2AK3 Bryony Thompson Marked gene: EIF2AK3 as ready
Mendeliome v0.12298 EIF2AK3 Bryony Thompson Gene: eif2ak3 has been classified as Green List (High Evidence).
Mendeliome v0.12298 TIA1 Zornitza Stark Mode of inheritance for gene: TIA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12297 TIA1 Zornitza Stark Classified gene: TIA1 as Amber List (moderate evidence)
Mendeliome v0.12297 TIA1 Zornitza Stark Gene: tia1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12296 AGL Elena Savva reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12296 EIF2AK3 Bryony Thompson Phenotypes for gene: EIF2AK3 were changed from to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus; epiphyseal dysplasia/osteopenia; hepatic/renal dysfunction; intellectual disability/developmental delay
Mendeliome v0.12295 TIA1 Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29235362, 29886022, 29773329, 29699721, 29216908, 24659297, 29457785, 28817800, 23401021, 23401021; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133, Welander distal myopathy (MIM#604454); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12295 EIF2AK3 Bryony Thompson Publications for gene: EIF2AK3 were set to
Mendeliome v0.12294 EIF2AK3 Bryony Thompson Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12293 THSD1 Zornitza Stark Marked gene: THSD1 as ready
Mendeliome v0.12293 THSD1 Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12293 THSD1 Zornitza Stark Phenotypes for gene: THSD1 were changed from to Aneurysm, intracranial berry, 12 , MIM# 618734
Mendeliome v0.12292 THSD1 Zornitza Stark Publications for gene: THSD1 were set to
Mendeliome v0.12291 THSD1 Zornitza Stark Mode of inheritance for gene: THSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12290 THSD1 Zornitza Stark Classified gene: THSD1 as Amber List (moderate evidence)
Mendeliome v0.12290 THSD1 Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12289 THSD1 Zornitza Stark edited their review of gene: THSD1: Changed publications: 27895300
Mendeliome v0.12289 THSD1 Zornitza Stark reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aneurysm, intracranial berry, 12 , MIM# 618734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12289 EFNA4 Bryony Thompson Marked gene: EFNA4 as ready
Mendeliome v0.12289 EFNA4 Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12289 EIF2AK3 Bryony Thompson reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183, 12960215, 16813601, 11997520, 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus, epiphyseal dysplasia/osteopenia, hepatic/renal dysfunction, intellectual disability/developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12289 EFNA4 Bryony Thompson Phenotypes for gene: EFNA4 were changed from to craniosynostosis MONDO:0015469
Mendeliome v0.12288 RBMX Zornitza Stark Marked gene: RBMX as ready
Mendeliome v0.12288 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12288 RBMX Zornitza Stark Classified gene: RBMX as Amber List (moderate evidence)
Mendeliome v0.12288 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12287 RBMX Zornitza Stark gene: RBMX was added
gene: RBMX was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
Review for gene: RBMX was set to AMBER
Added comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data.
Sources: Expert Review
Mendeliome v0.12286 EFNA4 Bryony Thompson Publications for gene: EFNA4 were set to
Mendeliome v0.12285 PADI6 Krithika Murali reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12285 EFNA4 Bryony Thompson Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12284 PADI3 Krithika Murali reviewed gene: PADI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866708, 22381266, 30763140; Phenotypes: Uncombable hair syndrome - MIM#191480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12284 PACS2 Krithika Murali reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12284 EHBP1 Bryony Thompson Marked gene: EHBP1 as ready
Mendeliome v0.12284 EHBP1 Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.12284 EHBP1 Bryony Thompson Phenotypes for gene: EHBP1 were changed from to {Prostate cancer, hereditary, 12} MIM#611868
Mendeliome v0.12283 EHBP1 Bryony Thompson Classified gene: EHBP1 as Red List (low evidence)
Mendeliome v0.12283 EHBP1 Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.12282 EHBP1 Bryony Thompson reviewed gene: EHBP1: Rating: RED; Mode of pathogenicity: None; Publications: 18264098; Phenotypes: {Prostate cancer, hereditary, 12} MIM#611868; Mode of inheritance: None
Mendeliome v0.12282 PABPN1 Krithika Murali reviewed gene: PABPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19080757, 33805441; Phenotypes: Oculopharyngeal muscular dystrophy - MIM#164300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12282 AGK Elena Savva reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12282 EDNRB Bryony Thompson Marked gene: EDNRB as ready
Mendeliome v0.12282 EDNRB Bryony Thompson Gene: ednrb has been classified as Green List (High Evidence).
Mendeliome v0.12282 EFNA4 Bryony Thompson Classified gene: EFNA4 as Amber List (moderate evidence)
Mendeliome v0.12282 EFNA4 Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12281 EFNA4 Bryony Thompson reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12281 P3H2 Krithika Murali reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12281 AFP Elena Savva reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15280901, 18854864; Phenotypes: Alpha-fetoprotein deficiency MIM#615969, [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12281 ADRB2 Elena Savva Marked gene: ADRB2 as ready
Mendeliome v0.12281 ADRB2 Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
Mendeliome v0.12281 ADRB2 Elena Savva Phenotypes for gene: ADRB2 were changed from to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665
Mendeliome v0.12280 ADRB2 Elena Savva Publications for gene: ADRB2 were set to
Mendeliome v0.12280 ADRB2 Elena Savva Classified gene: ADRB2 as Red List (low evidence)
Mendeliome v0.12280 ADRB2 Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
Mendeliome v0.12279 THRB Zornitza Stark Marked gene: THRB as ready
Mendeliome v0.12279 THRB Zornitza Stark Gene: thrb has been classified as Green List (High Evidence).
Mendeliome v0.12279 THRB Zornitza Stark Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650
Mendeliome v0.12278 THRB Zornitza Stark Publications for gene: THRB were set to
Mendeliome v0.12277 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12276 THRB Zornitza Stark reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 31590893; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12276 ADRB2 Elena Savva reviewed gene: ADRB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15724149; Phenotypes: Beta-2-adrenoreceptor agonist, reduced response to, {Asthma, nocturnal, susceptibility to} MIM#600807, {Obesity, susceptibility to} MIM#601665; Mode of inheritance: Unknown
Mendeliome v0.12276 SLC6A2 Zornitza Stark Marked gene: SLC6A2 as ready
Mendeliome v0.12276 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12276 SLC6A2 Zornitza Stark Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715
Mendeliome v0.12275 SLC6A2 Zornitza Stark Publications for gene: SLC6A2 were set to
Mendeliome v0.12274 SLC6A2 Zornitza Stark Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12273 SLC6A2 Zornitza Stark Classified gene: SLC6A2 as Red List (low evidence)
Mendeliome v0.12273 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12272 SLC6A2 Zornitza Stark reviewed gene: SLC6A2: Rating: RED; Mode of pathogenicity: None; Publications: 10684912; Phenotypes: Orthostatic intolerance, MIM# 604715; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Marked gene: SMARCAD1 as ready
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Green List (High Evidence).
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000 to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
Mendeliome v0.12271 SMARCAD1 Zornitza Stark Publications for gene: SMARCAD1 were set to
Mendeliome v0.12270 SMARCAD1 Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12269 SMARCAD1 Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12268 SMARCAD1 Zornitza Stark reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29409814; Phenotypes: Huriez syndrome, OMIM #181600, Basan syndrome, MIM# 129200, Adermatoglyphia, MIM# 136000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12268 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Mendeliome v0.12268 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Mendeliome v0.12268 SMARCB1 Zornitza Stark Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3, MIM# 614608
Mendeliome v0.12267 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to
Mendeliome v0.12266 SMARCB1 Zornitza Stark Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12265 SMARCB1 Zornitza Stark reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34205270, 31530938, 25168959; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12265 SMN2 Zornitza Stark Marked gene: SMN2 as ready
Mendeliome v0.12265 SMN2 Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12265 SMN2 Zornitza Stark Phenotypes for gene: SMN2 were changed from to {Spinal muscular atrophy, type III, modifier of} 253400
Mendeliome v0.12264 SMN2 Zornitza Stark Mode of inheritance for gene: SMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12263 SMN2 Zornitza Stark Classified gene: SMN2 as Amber List (moderate evidence)
Mendeliome v0.12263 SMN2 Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12262 SMN2 Zornitza Stark reviewed gene: SMN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Spinal muscular atrophy, type III, modifier of} 253400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12262 OTOG Zornitza Stark Marked gene: OTOG as ready
Mendeliome v0.12262 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Mendeliome v0.12262 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B - MIM#614945
Mendeliome v0.12261 EDNRB Bryony Thompson Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome type 4A MONDO:0010192; sensorineural hearing loss; pigmentary abnormalities; Hirschsprung disease
Mendeliome v0.12260 EDNRB Bryony Thompson Publications for gene: EDNRB were set to
Mendeliome v0.12259 EDNRB Bryony Thompson Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12258 EDNRB Bryony Thompson reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28502583, 25852447, 21373256, 16237557, 11773966, 11891690, 8001158, 10528251, 10528251, 19764031, 28236341; Phenotypes: Waardenburg syndrome type 4A (MONDO:0010192); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12258 OTOG Zornitza Stark Publications for gene: OTOG were set to
Mendeliome v0.12257 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12256 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12255 OTC Zornitza Stark Marked gene: OTC as ready
Mendeliome v0.12255 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Mendeliome v0.12255 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency - MIM#311250
Mendeliome v0.12254 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12253 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Mendeliome v0.12253 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Mendeliome v0.12253 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 (MIM#259720)
Mendeliome v0.12252 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Mendeliome v0.12251 OSTM1 Zornitza Stark Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12250 OSMR Zornitza Stark Marked gene: OSMR as ready
Mendeliome v0.12250 OSMR Zornitza Stark Gene: osmr has been classified as Green List (High Evidence).
Mendeliome v0.12250 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Mendeliome v0.12249 OSMR Zornitza Stark Publications for gene: OSMR were set to
Mendeliome v0.12248 OSMR Zornitza Stark Mode of inheritance for gene: OSMR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12247 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Mendeliome v0.12247 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Mendeliome v0.12247 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67 - MIM#616340
Mendeliome v0.12246 OSBPL2 Zornitza Stark Publications for gene: OSBPL2 were set to
Mendeliome v0.12245 OSBPL2 Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12244 OR2J3 Zornitza Stark Marked gene: OR2J3 as ready
Mendeliome v0.12244 OR2J3 Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
Mendeliome v0.12244 OR2J3 Zornitza Stark Classified gene: OR2J3 as Red List (low evidence)
Mendeliome v0.12244 OR2J3 Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
Mendeliome v0.12243 OPN1SW Zornitza Stark Marked gene: OPN1SW as ready
Mendeliome v0.12243 OPN1SW Zornitza Stark Gene: opn1sw has been classified as Green List (High Evidence).
Mendeliome v0.12243 OPN1SW Zornitza Stark Phenotypes for gene: OPN1SW were changed from to Colourblindness, tritan - MIM#190900
Mendeliome v0.12242 OPN1SW Zornitza Stark Publications for gene: OPN1SW were set to
Mendeliome v0.12241 OPN1SW Zornitza Stark Mode of inheritance for gene: OPN1SW was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12240 OPN1MW Zornitza Stark Marked gene: OPN1MW as ready
Mendeliome v0.12240 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12240 OPN1MW Zornitza Stark Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, deutan - MIM#303800
Mendeliome v0.12239 OPN1MW Zornitza Stark Publications for gene: OPN1MW were set to
Mendeliome v0.12238 OPN1MW Zornitza Stark Mode of inheritance for gene: OPN1MW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12237 OPN1MW Zornitza Stark Classified gene: OPN1MW as Amber List (moderate evidence)
Mendeliome v0.12237 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12236 OPN1MW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1MW.
Mendeliome v0.12236 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Mendeliome v0.12236 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12236 OPN1LW Zornitza Stark Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, protan - MIM#303900
Mendeliome v0.12235 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Mendeliome v0.12234 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Mendeliome v0.12234 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Mendeliome v0.12233 BLOC1S6 Bryony Thompson reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12233 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to
Mendeliome v0.12232 OPN1LW Zornitza Stark Mode of inheritance for gene: OPN1LW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12231 OPN1LW Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence)
Mendeliome v0.12231 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12230 OPN1LW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW.
Mendeliome v0.12230 SERPINA6 Zornitza Stark Marked gene: SERPINA6 as ready
Mendeliome v0.12230 SERPINA6 Zornitza Stark Gene: serpina6 has been classified as Green List (High Evidence).
Mendeliome v0.12230 SERPINA6 Zornitza Stark Phenotypes for gene: SERPINA6 were changed from to Corticosteroid-binding globulin deficiency, MIM#611489; Corticosteroid-binding globulin deficiency, MONDO#0012675
Mendeliome v0.12229 SERPINA6 Zornitza Stark Publications for gene: SERPINA6 were set to
Mendeliome v0.12228 SERPINA6 Zornitza Stark Mode of inheritance for gene: SERPINA6 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12227 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Mendeliome v0.12227 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Mendeliome v0.12227 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282
Mendeliome v0.12226 SERPINA1 Zornitza Stark Publications for gene: SERPINA1 were set to
Mendeliome v0.12225 SERPINA1 Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OTOG Krithika Murali reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OTC Krithika Murali reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency - MIM#311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12224 OSTM1 Krithika Murali reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OSMR Krithika Murali reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375894, 19528426, 25054142, 20507362, 19690585; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OSBPL2 Krithika Murali reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67 - MIM#616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OR2J3 Krithika Murali changed review comment from: No mendelian gene disease association; to: No mendelian gene disease association reported
Mendeliome v0.12224 OR2J3 Krithika Murali reviewed gene: OR2J3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12224 OPN1SW Krithika Murali reviewed gene: OPN1SW: Rating: GREEN; Mode of pathogenicity: None; Publications: 1531728, 2937147, 22065927, 32400513, 31944634; Phenotypes: Colorblindness, tritan - MIM#190900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OPN1MW Krithika Murali reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12224 OPN1LW Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12224 SERPINA6 Samantha Ayres reviewed gene: SERPINA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502797, 27214312, 21795453, 34308089, 22013108; Phenotypes: Corticosteroid-binding globulin deficiency, MIM#611489, Corticosteroid-binding globulin deficiency, MONDO#0012675; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12224 SERPINA1 Samantha Ayres changed review comment from: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.

MUTATIONAL & CLINICAL SPECTRUM
ZZ genotype: 2% have severe, neonatal/early-onset liver disease (potentially fatal/requiring liver transplantation), up to 6% have childhood onset liver disease. Also associated with adult-onset lung disease particularly emphysema (50%+ penetrance) - smoking is an important risk factor (close to 100% penetrance).

TREATMENT
There is no specific treatment for liver disease beyond transplant. There is treatment (AAT augmentation therapy) available to delay progression of lung disease phenotype.
Mendeliome v0.12224 SERPINA1 Samantha Ayres changed review comment from: Well established gene-disease association

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.
Mendeliome v0.12224 SERPINA1 Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 THRA Zornitza Stark Marked gene: THRA as ready
Mendeliome v0.12224 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Mendeliome v0.12224 THRA Zornitza Stark Phenotypes for gene: THRA were changed from to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Mendeliome v0.12223 THRA Zornitza Stark Publications for gene: THRA were set to
Mendeliome v0.12222 THRA Zornitza Stark Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12221 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 27381958, 24847459, 27144938; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12221 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Mendeliome v0.12221 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Mendeliome v0.12221 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Mendeliome v0.12220 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Mendeliome v0.12219 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM3 Zornitza Stark Marked gene: TGM3 as ready
Mendeliome v0.12218 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12218 TGM3 Zornitza Stark Phenotypes for gene: TGM3 were changed from to Uncombable hair syndrome 2 MIM#617251
Mendeliome v0.12217 TGM3 Zornitza Stark Publications for gene: TGM3 were set to
Mendeliome v0.12216 TGM3 Zornitza Stark Mode of inheritance for gene: TGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12215 TGM3 Zornitza Stark Classified gene: TGM3 as Amber List (moderate evidence)
Mendeliome v0.12215 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Marked gene: OAT as ready
Mendeliome v0.12214 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Phenotypes for gene: OAT were changed from to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Mendeliome v0.12213 OAT Zornitza Stark Publications for gene: OAT were set to
Mendeliome v0.12212 OAT Zornitza Stark Mode of inheritance for gene: OAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12211 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Mendeliome v0.12211 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Mendeliome v0.12211 NUP93 Zornitza Stark Phenotypes for gene: NUP93 were changed from to Nephrotic syndrome, type 12 - MIM#616892
Mendeliome v0.12210 NUP93 Zornitza Stark Publications for gene: NUP93 were set to
Mendeliome v0.12209 NUP93 Zornitza Stark Mode of inheritance for gene: NUP93 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12208 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Mendeliome v0.12208 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12208 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile - MIM#271930
Mendeliome v0.12207 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Mendeliome v0.12206 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12205 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Mendeliome v0.12205 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12204 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Mendeliome v0.12204 ADH1B Zornitza Stark Marked gene: ADH1B as ready
Mendeliome v0.12204 ADH1B Zornitza Stark Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12204 ADH1B Zornitza Stark Mode of inheritance for gene: ADH1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12203 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Mendeliome v0.12203 CASP8 Zornitza Stark Added comment: Comment when marking as ready: Amber in view of the functional data.
Mendeliome v0.12203 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12203 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Mendeliome v0.12202 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Mendeliome v0.12201 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12200 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Mendeliome v0.12200 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12199 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Mendeliome v0.12198 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Mendeliome v0.12198 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12198 ADCY3 Zornitza Stark Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885
Mendeliome v0.12197 ADCY3 Zornitza Stark Publications for gene: ADCY3 were set to
Mendeliome v0.12196 ADCY3 Zornitza Stark Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12195 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Mendeliome v0.12195 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12194 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Mendeliome v0.12194 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Mendeliome v0.12194 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Mendeliome v0.12193 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Mendeliome v0.12192 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 25835445, 15639475; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Mendeliome v0.12191 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Mendeliome v0.12191 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Mendeliome v0.12190 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Mendeliome v0.12189 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
Mendeliome v0.12189 TGFB1 Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Camurati-Engelmann disease, MIM# 131300
Mendeliome v0.12188 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Mendeliome v0.12187 TGFB1 Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29483653, 10973241, 35315241, 30721323; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213, Camurati-Engelmann disease, MIM# 131300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TG Zornitza Stark Marked gene: TG as ready
Mendeliome v0.12186 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Mendeliome v0.12186 TG Zornitza Stark Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3, MIM# 274700
Mendeliome v0.12185 TG Zornitza Stark Publications for gene: TG were set to
Mendeliome v0.12184 TG Zornitza Stark Mode of inheritance for gene: TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 TG Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33832185, 19169491, 28620499, 18631008, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali Deleted their comment
Mendeliome v0.12183 OAT Krithika Murali edited their review of gene: OAT: Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: None
Mendeliome v0.12183 NUP93 Krithika Murali reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391; Phenotypes: Nephrotic syndrome, type 12 - MIM#616892; Mode of inheritance: None
Mendeliome v0.12183 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12182 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12182 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12181 ADRB1 Elena Savva Marked gene: ADRB1 as ready
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12181 ADRB1 Elena Savva Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12182 ADRB1 Elena Savva Publications for gene: ADRB1 were set to
Mendeliome v0.12181 ADRB1 Elena Savva Classified gene: ADRB1 as Red List (low evidence)
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12180 ADRB1 Elena Savva reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12180 NTN1 Zornitza Stark Marked gene: NTN1 as ready
Mendeliome v0.12180 NTN1 Zornitza Stark Gene: ntn1 has been classified as Green List (High Evidence).
Mendeliome v0.12180 NTN1 Zornitza Stark Phenotypes for gene: NTN1 were changed from to Mirror movements 4 MIM#618264
Mendeliome v0.12179 NTN1 Zornitza Stark Publications for gene: NTN1 were set to
Mendeliome v0.12178 NTN1 Zornitza Stark Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12177 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Mendeliome v0.12177 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Mendeliome v0.12177 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
Mendeliome v0.12176 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Mendeliome v0.12175 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12174 NRCAM Zornitza Stark Marked gene: NRCAM as ready
Mendeliome v0.12174 NRCAM Zornitza Stark Gene: nrcam has been classified as Green List (High Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Marked gene: NR4A3 as ready
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Classified gene: NR4A3 as Red List (low evidence)
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Mendeliome v0.12173 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Mendeliome v0.12172 NKX2-5 Zornitza Stark reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12172 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)
Mendeliome v0.12171 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to
Mendeliome v0.12170 NKX2-5 Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12169 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Mendeliome v0.12169 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Mendeliome v0.12169 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Mendeliome v0.12168 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Mendeliome v0.12167 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mendeliome v0.12165 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mendeliome v0.12164 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12163 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mendeliome v0.12163 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mendeliome v0.12163 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Mendeliome v0.12162 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mendeliome v0.12161 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12160 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mendeliome v0.12160 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mendeliome v0.12160 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Mendeliome v0.12159 ADH1B Elena Savva Phenotypes for gene: ADH1B were changed from to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780
Mendeliome v0.12159 ADH1B Elena Savva Mode of pathogenicity for gene: ADH1B was changed from to None
Mendeliome v0.12158 ADH1B Elena Savva Classified gene: ADH1B as Red List (low evidence)
Mendeliome v0.12158 ADH1B Elena Savva Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12157 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mendeliome v0.12156 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12155 ADH1B Elena Savva reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown
Mendeliome v0.12155 ADGRV1 Elena Savva Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Mendeliome v0.12154 CACNA1F Zornitza Stark Tag SV/CNV tag was added to gene: CACNA1F.
Mendeliome v0.12154 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Mendeliome v0.12153 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12152 CA2 Zornitza Stark Deleted their comment
Mendeliome v0.12152 CASP8 Ain Roesley changed review comment from: Boderline red/amber

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.; to: Borderline red/amber

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.
Mendeliome v0.12152 CASP8 Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: utoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12152 ADGRV1 Elena Savva Mode of pathogenicity for gene: ADGRV1 was changed from to None
Mendeliome v0.12152 ADGRV1 Elena Savva Phenotypes for gene: ADGRV1 were changed from to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Mendeliome v0.12151 ADGRV1 Elena Savva Marked gene: ADGRV1 as ready
Mendeliome v0.12151 ADGRV1 Elena Savva Gene: adgrv1 has been classified as Green List (High Evidence).
Mendeliome v0.12151 ADGRV1 Elena Savva Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12150 ADGRV1 Elena Savva reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Febrile seizures, familial, 4 MIM#604352, Usher syndrome, type 2C MIM#60547, Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12150 CASP8 Ain Roesley Deleted their review
Mendeliome v0.12150 CASP8 Ain Roesley Deleted their comment
Mendeliome v0.12150 CASP8 Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 33356695; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12150 ADCY3 Elena Savva reviewed gene: ADCY3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11055432, 29311636, 29311637; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12150 CASP10 Ain Roesley Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II MIM#603909 to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Mendeliome v0.12149 CASP10 Ain Roesley Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Mendeliome v0.12149 CASP10 Ain Roesley Marked gene: CASP10 as ready
Mendeliome v0.12149 CASP10 Ain Roesley Gene: casp10 has been classified as Green List (High Evidence).
Mendeliome v0.12149 CASP10 Ain Roesley Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12149 CASP10 Ain Roesley Publications for gene: CASP10 were set to
Mendeliome v0.12148 CASP10 Ain Roesley reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12148 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mendeliome v0.12148 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mendeliome v0.12148 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Mendeliome v0.12147 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mendeliome v0.12146 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12145 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Mendeliome v0.12145 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Mendeliome v0.12145 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from to Insensitivity to pain, congenital, with anhidrosis - MIM#256800
Mendeliome v0.12144 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Mendeliome v0.12143 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12142 NTF4 Zornitza Stark Marked gene: NTF4 as ready
Mendeliome v0.12142 NTF4 Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12142 NTF4 Zornitza Stark Phenotypes for gene: NTF4 were changed from to Glaucoma 1, open angle, 1O - MIIM#613100
Mendeliome v0.12141 NTF4 Zornitza Stark Publications for gene: NTF4 were set to
Mendeliome v0.12140 NTF4 Zornitza Stark Mode of inheritance for gene: NTF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12139 CASK Ain Roesley Phenotypes for gene: CASK were changed from FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422 to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Mendeliome v0.12139 NTF4 Zornitza Stark Classified gene: NTF4 as Red List (low evidence)
Mendeliome v0.12139 NTF4 Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12138 CASK Ain Roesley Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Mendeliome v0.12137 CASK Ain Roesley Marked gene: CASK as ready
Mendeliome v0.12137 CASK Ain Roesley Gene: cask has been classified as Green List (High Evidence).
Mendeliome v0.12137 CASK Ain Roesley Marked gene: CASK as ready
Mendeliome v0.12137 CASK Ain Roesley Gene: cask has been classified as Green List (High Evidence).
Mendeliome v0.12137 CASK Ain Roesley Publications for gene: CASK were set to
Mendeliome v0.12136 CASK Ain Roesley Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12135 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Mendeliome v0.12135 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
Mendeliome v0.12135 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from to Mental retardation, autosomal recessive 5 - MIM#611091
Mendeliome v0.12134 CASK Ain Roesley reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24278995; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.12134 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Mendeliome v0.12133 NSUN2 Zornitza Stark Mode of inheritance for gene: NSUN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12132 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731, 22577224, 35126837; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12132 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Mendeliome v0.12132 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Mendeliome v0.12132 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Mendeliome v0.12131 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Mendeliome v0.12130 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12129 CARD11 Ain Roesley Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Mendeliome v0.12128 CARD11 Ain Roesley Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Mendeliome v0.12128 CARD11 Ain Roesley Marked gene: CARD11 as ready
Mendeliome v0.12128 CARD11 Ain Roesley Gene: card11 has been classified as Green List (High Evidence).
Mendeliome v0.12128 CARD11 Ain Roesley Publications for gene: CARD11 were set to
Mendeliome v0.12128 CARD11 Ain Roesley Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12127 CARD11 Ain Roesley reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12127 CALM3 Ain Roesley Marked gene: CALM3 as ready
Mendeliome v0.12127 CALM3 Ain Roesley Gene: calm3 has been classified as Green List (High Evidence).
Mendeliome v0.12127 CALM3 Ain Roesley Phenotypes for gene: CALM3 were changed from to Long QT syndrome 16 MIM#618782; CPVT
Mendeliome v0.12127 CALM3 Ain Roesley Publications for gene: CALM3 were set to
Mendeliome v0.12127 CALM3 Ain Roesley Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12126 CALM3 Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 16 MIM#618782, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12126 CALM2 Ain Roesley Marked gene: CALM2 as ready
Mendeliome v0.12126 CALM2 Ain Roesley Gene: calm2 has been classified as Green List (High Evidence).
Mendeliome v0.12126 CALM2 Ain Roesley Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 MIM#616249; CPVT
Mendeliome v0.12125 CALM2 Ain Roesley Publications for gene: CALM2 were set to
Mendeliome v0.12125 CALM2 Ain Roesley Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12124 CALM2 Ain Roesley reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12124 CALM1 Ain Roesley Marked gene: CALM1 as ready
Mendeliome v0.12124 CALM1 Ain Roesley Gene: calm1 has been classified as Green List (High Evidence).
Mendeliome v0.12124 CALM1 Ain Roesley Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 MIM#616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916
Mendeliome v0.12123 CALM1 Ain Roesley Publications for gene: CALM1 were set to
Mendeliome v0.12123 CALM1 Ain Roesley Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12122 CALM1 Ain Roesley reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31170290; Phenotypes: Long QT syndrome 14 MIM#616247, Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12122 NRL Zornitza Stark Marked gene: NRL as ready
Mendeliome v0.12122 NRL Zornitza Stark Gene: nrl has been classified as Green List (High Evidence).
Mendeliome v0.12122 NRL Zornitza Stark Phenotypes for gene: NRL were changed from to Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type
Mendeliome v0.12121 NRL Zornitza Stark Publications for gene: NRL were set to
Mendeliome v0.12120 NRL Zornitza Stark Mode of inheritance for gene: NRL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12119 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Marked gene: CACNA2D4 as ready
Mendeliome v0.12118 CACNA2D4 Ain Roesley Gene: cacna2d4 has been classified as Green List (High Evidence).
Mendeliome v0.12118 CACNA2D4 Ain Roesley Publications for gene: CACNA2D4 were set to
Mendeliome v0.12118 CACNA2D4 Ain Roesley Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12117 CACNA2D4 Ain Roesley reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12117 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Mendeliome v0.12117 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Mendeliome v0.12117 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779
Mendeliome v0.12116 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to
Mendeliome v0.12115 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Mendeliome v0.12115 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Mendeliome v0.12115 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Mendeliome v0.12114 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Mendeliome v0.12113 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12112 SEMA3A Zornitza Stark Marked gene: SEMA3A as ready
Mendeliome v0.12112 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Mendeliome v0.12112 SEMA3A Zornitza Stark Phenotypes for gene: SEMA3A were changed from to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature
Mendeliome v0.12111 SEMA3A Zornitza Stark Publications for gene: SEMA3A were set to
Mendeliome v0.12110 SEMA3A Zornitza Stark Mode of inheritance for gene: SEMA3A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12109 SCP2 Zornitza Stark Marked gene: SCP2 as ready
Mendeliome v0.12109 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12109 SCP2 Zornitza Stark Publications for gene: SCP2 were set to 16685654
Mendeliome v0.12108 SCP2 Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
Mendeliome v0.12108 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12107 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12107 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12106 SCP2 Zornitza Stark Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Mendeliome v0.12105 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12105 CACNA2D2 Ain Roesley Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Mendeliome v0.12104 SCP2 Zornitza Stark Publications for gene: SCP2 were set to
Mendeliome v0.12104 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12103 CACNA2D2 Ain Roesley Publications for gene: CACNA2D2 were set to
Mendeliome v0.12103 CACNA2D2 Ain Roesley Marked gene: CACNA2D2 as ready
Mendeliome v0.12103 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Mendeliome v0.12103 SCP2 Zornitza Stark Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12102 SCP2 Zornitza Stark Classified gene: SCP2 as Red List (low evidence)
Mendeliome v0.12102 SCP2 Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
Mendeliome v0.12101 CACNA2D2 Ain Roesley edited their review of gene: CACNA2D2: Changed publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Changed phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12101 CACNA2D2 Ain Roesley Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12100 CACNA2D2 Ain Roesley reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Phenotypes: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12100 CACNA1F Ain Roesley Mode of inheritance for gene: CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12099 CACNA1F Ain Roesley Marked gene: CACNA1F as ready
Mendeliome v0.12099 CACNA1F Ain Roesley Gene: cacna1f has been classified as Green List (High Evidence).
Mendeliome v0.12099 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Mendeliome v0.12099 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Mendeliome v0.12099 CACNA1F Ain Roesley Phenotypes for gene: CACNA1F were changed from to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
Mendeliome v0.12099 CACNA1F Ain Roesley Publications for gene: CACNA1F were set to
Mendeliome v0.12099 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141
Mendeliome v0.12099 CACNA1F Ain Roesley Mode of inheritance for gene: CACNA1F was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12098 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to
Mendeliome v0.12097 CACNA1F Ain Roesley reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559, 26075273, 25999675; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.12097 TUBB1 Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12096 TUBB1 Zornitza Stark reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12096 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Mendeliome v0.12096 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Mendeliome v0.12096 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Mendeliome v0.12095 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Mendeliome v0.12094 SCARB2 Zornitza Stark Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12093 SASH1 Zornitza Stark Marked gene: SASH1 as ready
Mendeliome v0.12093 SASH1 Zornitza Stark Gene: sash1 has been classified as Green List (High Evidence).
Mendeliome v0.12093 SASH1 Zornitza Stark Phenotypes for gene: SASH1 were changed from to Dyschromatosis universalis hereditaria 1, MIM #127500; familial generalized lentiginosis MONDO:007891
Mendeliome v0.12092 SASH1 Zornitza Stark Publications for gene: SASH1 were set to
Mendeliome v0.12091 SASH1 Zornitza Stark Mode of inheritance for gene: SASH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12090 SASH1 Zornitza Stark reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM# 127500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12090 CABP2 Ain Roesley Marked gene: CABP2 as ready
Mendeliome v0.12090 CABP2 Ain Roesley Gene: cabp2 has been classified as Green List (High Evidence).
Mendeliome v0.12090 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Mendeliome v0.12090 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Mendeliome v0.12090 CABP2 Ain Roesley Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
Mendeliome v0.12090 CABP2 Ain Roesley Publications for gene: CABP2 were set to
Mendeliome v0.12090 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650
Mendeliome v0.12090 CABP2 Ain Roesley Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12089 CABP2 Ain Roesley reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12089 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to
Mendeliome v0.12088 TUBB4B Zornitza Stark reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240325; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12088 CA2 Ain Roesley Publications for gene: CA2 were set to 34624559; 33555497; 12566520; 7627193
Mendeliome v0.12087 TUBB4B Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12086 TUFM Zornitza Stark Marked gene: TUFM as ready
Mendeliome v0.12086 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Mendeliome v0.12086 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
Mendeliome v0.12085 TUFM Zornitza Stark Publications for gene: TUFM were set to
Mendeliome v0.12084 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12084 CA2 Ain Roesley Publications for gene: CA2 were set to
Mendeliome v0.12083 CA2 Ain Roesley Marked gene: CA2 as ready
Mendeliome v0.12083 CA2 Ain Roesley Gene: ca2 has been classified as Green List (High Evidence).
Mendeliome v0.12083 CA2 Ain Roesley reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12083 NR2F2 Zornitza Stark Mode of inheritance for gene: NR2F2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12082 CA12 Ain Roesley Marked gene: CA12 as ready
Mendeliome v0.12082 CA12 Ain Roesley Gene: ca12 has been classified as Green List (High Evidence).
Mendeliome v0.12082 CA12 Ain Roesley Phenotypes for gene: CA12 were changed from to Hyperchlorhidrosis, isolated MIM#143860
Mendeliome v0.12081 CA12 Ain Roesley Publications for gene: CA12 were set to
Mendeliome v0.12081 CA12 Ain Roesley Mode of inheritance for gene: CA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12080 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Mendeliome v0.12080 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
Mendeliome v0.12080 CA12 Ain Roesley reviewed gene: CA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035102, 21184099, 26911677; Phenotypes: Hyperchlorhidrosis, isolated MIM#143860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12080 NR2E3 Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Retinitis pigmentosa 37 - MIM#611131; Enhanced S-cone syndrome - MIM#268100; Goldmann-Favre syndrome - MONDO#0100289; retinal dystrophy
Mendeliome v0.12079 NR2E3 Zornitza Stark Publications for gene: NR2E3 were set to
Mendeliome v0.12078 NR2E3 Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12077 NR0B2 Zornitza Stark Marked gene: NR0B2 as ready
Mendeliome v0.12077 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Mendeliome v0.12077 NR0B2 Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12076 NR0B2 Zornitza Stark Phenotypes for gene: NR0B2 were changed from to Obesity, mild, early-onset, MIM# 601665
Mendeliome v0.12075 NR0B2 Zornitza Stark Classified gene: NR0B2 as Red List (low evidence)
Mendeliome v0.12075 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Mendeliome v0.12074 NPSR1 Zornitza Stark Marked gene: NPSR1 as ready
Mendeliome v0.12074 NPSR1 Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.12074 NPSR1 Zornitza Stark Phenotypes for gene: NPSR1 were changed from to {Asthma, susceptibility to, 2} 608584
Mendeliome v0.12073 NPSR1 Zornitza Stark Mode of inheritance for gene: NPSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12072 NPSR1 Zornitza Stark Classified gene: NPSR1 as Red List (low evidence)
Mendeliome v0.12072 NPSR1 Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.12071 ACER3 Zornitza Stark edited their review of gene: ACER3: Added comment: Additional publication (Dehvani et al., 2021; PMID: 34281620) detailing three further unrelated cases, each with novel homozygous variants in the ACER3 gene. All individuals displayed features of progressive leukoencephalopathy, developmental delay, hypotonia, appendicular spasticity, and dystonia. Early development is apparently normal followed by symptoms of stagnation and neurologic regression (onset within first year of life).; Changed rating: GREEN; Changed publications: 32816236, 26792856, 34281620; Changed phenotypes: Leukodystrophy, progressive, early childhood-onset, MIM:617762
Mendeliome v0.12071 LIAS Alison Yeung Marked gene: LIAS as ready
Mendeliome v0.12071 LIAS Alison Yeung Gene: lias has been classified as Green List (High Evidence).
Mendeliome v0.12071 LIAS Alison Yeung Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
Mendeliome v0.12070 LIAS Alison Yeung Publications for gene: LIAS were set to
Mendeliome v0.12069 LIAS Alison Yeung Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12068 LIAS Alison Yeung reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12068 LHX4 Alison Yeung Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
Mendeliome v0.12067 LHX4 Alison Yeung Marked gene: LHX4 as ready
Mendeliome v0.12067 LHX4 Alison Yeung Gene: lhx4 has been classified as Green List (High Evidence).
Mendeliome v0.12067 LHX4 Alison Yeung Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12066 LHX4 Alison Yeung reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12066 SERAC1 Samantha Ayres reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205472, 32684373, 24741715; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12066 SEMA3A Samantha Ayres reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28075028, 33369061, 20301509, 21059704, 24124006, 22927827; Phenotypes: Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897, congenital heart disease, short stature; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12066 LHX3 Alison Yeung Marked gene: LHX3 as ready
Mendeliome v0.12066 LHX3 Alison Yeung Gene: lhx3 has been classified as Green List (High Evidence).
Mendeliome v0.12066 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Mendeliome v0.12065 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12064 LHX3 Alison Yeung reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12064 LHB Alison Yeung Marked gene: LHB as ready
Mendeliome v0.12064 LHB Alison Yeung Gene: lhb has been classified as Green List (High Evidence).
Mendeliome v0.12064 LHB Alison Yeung Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300
Mendeliome v0.12063 LHB Alison Yeung Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 LHB Alison Yeung reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12062 SCP2 Samantha Ayres changed review comment from: Just one case reported in the literature in 2006; to: Just one case reported in the literature in 2006
Mendeliome v0.12062 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Mendeliome v0.12062 TUBB1 Manny Jacobs reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32757236, PMID: 31565851, PMID: 29333906, PMID: 18849486; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12062 SCARB2 Samantha Ayres reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 SASH1 Samantha Ayres reviewed gene: SASH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23333244, 27885802, 32981204; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM #127500, familial generalized lentiginosis MONDO:007891; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12062 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 TUBB4B Manny Jacobs reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29198720; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12062 LGI1 Alison Yeung Marked gene: LGI1 as ready
Mendeliome v0.12062 LGI1 Alison Yeung Gene: lgi1 has been classified as Green List (High Evidence).
Mendeliome v0.12062 LGI1 Alison Yeung Phenotypes for gene: LGI1 were changed from to Epilepsy, familial temporal lobe, 1, MIM# 6000512
Mendeliome v0.12061 LGI1 Alison Yeung Publications for gene: LGI1 were set to
Mendeliome v0.12060 LGI1 Alison Yeung Mode of inheritance for gene: LGI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12059 NTRK1 Krithika Murali reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12059 NTF4 Krithika Murali reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: 20806036, 19765683, 22815630; Phenotypes: Glaucoma 1, open angle, 1O - MIIM#613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12059 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12059 LGI1 Alison Yeung reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711109, 12205652, 15079010, 22496201; Phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12059 LEMD3 Alison Yeung Marked gene: LEMD3 as ready
Mendeliome v0.12059 LEMD3 Alison Yeung Gene: lemd3 has been classified as Green List (High Evidence).
Mendeliome v0.12059 LEMD3 Alison Yeung Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Mendeliome v0.12058 LEMD3 Alison Yeung Publications for gene: LEMD3 were set to
Mendeliome v0.12057 LEMD3 Alison Yeung Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12056 NRL Krithika Murali reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15591106, 29385733, 21981118, 10192380, 9344665; Phenotypes: Retinitis pigmentosa 27 - MIM#613750, Retinal degeneration, autosomal recessive, clumped pigment type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12056 LDLRAP1 Alison Yeung Marked gene: LDLRAP1 as ready
Mendeliome v0.12056 LDLRAP1 Alison Yeung Gene: ldlrap1 has been classified as Green List (High Evidence).
Mendeliome v0.12056 LDLRAP1 Alison Yeung Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813
Mendeliome v0.12055 LDLRAP1 Alison Yeung Publications for gene: LDLRAP1 were set to
Mendeliome v0.12054 LDLRAP1 Alison Yeung Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12053 LDLRAP1 Alison Yeung reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12053 LDHB Alison Yeung Marked gene: LDHB as ready
Mendeliome v0.12053 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mendeliome v0.12053 LDHB Alison Yeung Phenotypes for gene: LDHB were changed from to Lactate dehydrogenase B deficiency, MIM# 614128
Mendeliome v0.12052 LDHB Alison Yeung Publications for gene: LDHB were set to
Mendeliome v0.12051 LDHB Alison Yeung Mode of inheritance for gene: LDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12050 LDHB Alison Yeung Classified gene: LDHB as Red List (low evidence)
Mendeliome v0.12050 LDHB Alison Yeung Added comment: Comment on list classification: Not associated with clinical disease
Mendeliome v0.12050 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mendeliome v0.12049 TUFM Manny Jacobs reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132884, PMID: 26741492, PMID: 17160893, PMID: 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12049 LDHB Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12049 LCAT Alison Yeung Marked gene: LCAT as ready
Mendeliome v0.12049 LCAT Alison Yeung Gene: lcat has been classified as Green List (High Evidence).
Mendeliome v0.12049 LCAT Alison Yeung Phenotypes for gene: LCAT were changed from to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
Mendeliome v0.12048 LCAT Alison Yeung Publications for gene: LCAT were set to
Mendeliome v0.12047 LCAT Alison Yeung Mode of inheritance for gene: LCAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12046 LCAT Alison Yeung reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900, Fish-Eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12046 LCA5 Alison Yeung Marked gene: LCA5 as ready
Mendeliome v0.12046 LCA5 Alison Yeung Gene: lca5 has been classified as Green List (High Evidence).
Mendeliome v0.12046 LCA5 Alison Yeung Phenotypes for gene: LCA5 were changed from to Leber Congenital Amaurosis 5, MIM# 604537
Mendeliome v0.12045 LCA5 Alison Yeung Publications for gene: LCA5 were set to
Mendeliome v0.12044 LCA5 Alison Yeung Mode of inheritance for gene: LCA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12043 LCA5 Alison Yeung reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546029; Phenotypes: Leber Congenital Amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12043 NR2F2 Krithika Murali reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12043 NR2E3 Krithika Murali reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301590, 30324420, 19718767, 33138239; Phenotypes: Retinitis pigmentosa 37 - MIM#611131, Enhanced S-cone syndrome - MIM#268100, Goldmann-Favre syndrome - MONDO#0100289, retinal dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12043 NR0B2 Krithika Murali reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12043 NPSR1 Krithika Murali reviewed gene: NPSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12043 MSMB Zornitza Stark Marked gene: MSMB as ready
Mendeliome v0.12043 MSMB Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
Mendeliome v0.12043 MSMB Zornitza Stark Phenotypes for gene: MSMB were changed from to {Prostate cancer, hereditary, 13} 611928
Mendeliome v0.12042 MSMB Zornitza Stark Mode of inheritance for gene: MSMB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12041 MSMB Zornitza Stark Classified gene: MSMB as Red List (low evidence)
Mendeliome v0.12041 MSMB Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
Mendeliome v0.12040 MSMB Zornitza Stark reviewed gene: MSMB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Prostate cancer, hereditary, 13} 611928; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12040 SON Zornitza Stark Marked gene: SON as ready
Mendeliome v0.12040 SON Zornitza Stark Gene: son has been classified as Green List (High Evidence).
Mendeliome v0.12040 SON Zornitza Stark Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140
Mendeliome v0.12039 SON Zornitza Stark Publications for gene: SON were set to
Mendeliome v0.12038 SON Zornitza Stark Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12037 SON Zornitza Stark reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12037 SNX3 Zornitza Stark Marked gene: SNX3 as ready
Mendeliome v0.12037 SNX3 Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
Mendeliome v0.12037 SNX3 Zornitza Stark Classified gene: SNX3 as Red List (low evidence)
Mendeliome v0.12037 SNX3 Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
Mendeliome v0.12036 SNX3 Zornitza Stark reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12036 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938; {Meningioma, familial, susceptibility to} 607174
Mendeliome v0.12035 SMARCE1 Zornitza Stark changed review comment from: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.

Accounts for ~2% of Coffin Siris syndrome.; to: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.

Accounts for ~2% of Coffin Siris syndrome.

Germline LoF variants also linked to familial meningioma.
Mendeliome v0.12035 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 23377182, 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Changed phenotypes: Coffin-Siris syndrome 5, MIM# 616938, {Meningioma, familial, susceptibility to} 607174
Mendeliome v0.12035 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to 22426308; 23906836; 23929686; 32732226; 32436246; 32410215; 34205270
Mendeliome v0.12034 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Mendeliome v0.12034 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Mendeliome v0.12034 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Mendeliome v0.12033 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Mendeliome v0.12032 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 MAX Zornitza Stark Marked gene: MAX as ready
Mendeliome v0.12031 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Mendeliome v0.12031 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Mendeliome v0.12030 MAX Zornitza Stark Publications for gene: MAX were set to
Mendeliome v0.12029 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Mendeliome v0.12028 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Mendeliome v0.12028 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Mendeliome v0.12027 MAT1A Zornitza Stark Publications for gene: MAT1A were set to
Mendeliome v0.12026 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12025 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Mendeliome v0.12025 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Mendeliome v0.12025 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Mendeliome v0.12024 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Mendeliome v0.12023 SNX14 Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Mendeliome v0.12022 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Mendeliome v0.12022 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Mendeliome v0.12021 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Mendeliome v0.12020 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Mendeliome v0.12019 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Mendeliome v0.12019 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528
Mendeliome v0.12018 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Mendeliome v0.12017 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP29 Zornitza Stark reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Mendeliome v0.12016 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Mendeliome v0.12016 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330
Mendeliome v0.12015 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Mendeliome v0.12014 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAP25 Zornitza Stark reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Mendeliome v0.12013 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12013 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800
Mendeliome v0.12012 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Mendeliome v0.12011 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12010 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Mendeliome v0.12010 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12009 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12009 SMS Zornitza Stark Marked gene: SMS as ready
Mendeliome v0.12009 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Mendeliome v0.12009 SMS Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Mendeliome v0.12008 SMS Zornitza Stark Publications for gene: SMS were set to
Mendeliome v0.12007 SMS Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12006 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12006 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Mendeliome v0.12005 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Mendeliome v0.12005 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
Mendeliome v0.12004 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Mendeliome v0.12003 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Mendeliome v0.12002 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Mendeliome v0.12002 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)
Mendeliome v0.12001 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Mendeliome v0.12000 ROBO3 Zornitza Stark Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11999 ROBO2 Zornitza Stark Marked gene: ROBO2 as ready
Mendeliome v0.11999 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Mendeliome v0.11999 ROBO2 Zornitza Stark Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Mendeliome v0.11998 ROBO2 Zornitza Stark Publications for gene: ROBO2 were set to
Mendeliome v0.11997 ROBO2 Zornitza Stark Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 ROBO2 Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Mendeliome v0.11996 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Mendeliome v0.11996 RNF216 Zornitza Stark Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Mendeliome v0.11995 RNF216 Zornitza Stark Publications for gene: RNF216 were set to
Mendeliome v0.11994 RNF216 Zornitza Stark Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11993 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Mendeliome v0.11993 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v0.11993 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11992 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
Mendeliome v0.11991 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11991 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Mendeliome v0.11991 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Mendeliome v0.11991 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846
Mendeliome v0.11990 TFAP2B Zornitza Stark changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA.

Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant).
Mendeliome v0.11990 TFAP2B Zornitza Stark edited their review of gene: TFAP2B: Changed publications: 31292255, 11505339, 15684060, 18752453, 21643846; Changed phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035, Syndromic craniosynostosis
Mendeliome v0.11990 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035 to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035; Syndromic craniosynostosis
Mendeliome v0.11989 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035
Mendeliome v0.11988 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to
Mendeliome v0.11987 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11986 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11986 TERT Zornitza Stark Marked gene: TERT as ready
Mendeliome v0.11986 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Mendeliome v0.11986 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Mendeliome v0.11985 TERT Zornitza Stark Publications for gene: TERT were set to
Mendeliome v0.11984 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11983 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11983 TERC Zornitza Stark Marked gene: TERC as ready
Mendeliome v0.11983 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Mendeliome v0.11983 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Mendeliome v0.11982 TERC Zornitza Stark Publications for gene: TERC were set to
Mendeliome v0.11981 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11980 TERC Zornitza Stark reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574891; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11980 TEK Zornitza Stark Marked gene: TEK as ready
Mendeliome v0.11980 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Mendeliome v0.11980 TEK Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272; Venous malformations, multiple cutaneous and mucosal, MIM# 600195
Mendeliome v0.11979 TEK Zornitza Stark Publications for gene: TEK were set to
Mendeliome v0.11978 TEK Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11977 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174, 19888299; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272, Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11977 TEAD1 Zornitza Stark Marked gene: TEAD1 as ready
Mendeliome v0.11977 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11977 TEAD1 Zornitza Stark Phenotypes for gene: TEAD1 were changed from to Sveinsson chorioretinal atrophy, MIM# 108985
Mendeliome v0.11976 TEAD1 Zornitza Stark edited their review of gene: TEAD1: Changed rating: AMBER; Changed publications: 26091538, 15016762, 33864784, 17689488, 30903741
Mendeliome v0.11976 TEAD1 Zornitza Stark Publications for gene: TEAD1 were set to
Mendeliome v0.11975 TEAD1 Zornitza Stark changed review comment from: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals.

The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family.

Functional data supports gene-disease association.; to: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals.

The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family.

A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Mendeliome v0.11975 TEAD1 Zornitza Stark Classified gene: TEAD1 as Amber List (moderate evidence)
Mendeliome v0.11975 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11974 TEAD1 Zornitza Stark Mode of inheritance for gene: TEAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11973 TEAD1 Zornitza Stark reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 33864784, 17689488, 30903741; Phenotypes: Sveinsson chorioretinal atrophy, MIM# 108985; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11973 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Mendeliome v0.11973 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Mendeliome v0.11972 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Mendeliome v0.11971 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11970 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Mendeliome v0.11970 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11969 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11969 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Mendeliome v0.11969 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Mendeliome v0.11969 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
Mendeliome v0.11968 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Mendeliome v0.11967 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCIRG1 Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Mendeliome v0.11966 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Mendeliome v0.11966 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Mendeliome v0.11965 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Mendeliome v0.11964 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCAP Zornitza Stark Marked gene: TCAP as ready
Mendeliome v0.11963 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Mendeliome v0.11963 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954
Mendeliome v0.11962 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TCAP Zornitza Stark reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Mendeliome v0.11961 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Mendeliome v0.11961 TBX5 Zornitza Stark Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900
Mendeliome v0.11960 TBX5 Zornitza Stark Publications for gene: TBX5 were set to
Mendeliome v0.11959 TBX5 Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11958 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Mendeliome v0.11958 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Mendeliome v0.11958 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363
Mendeliome v0.11957 TBX20 Zornitza Stark Publications for gene: TBX20 were set to
Mendeliome v0.11956 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Mendeliome v0.11954 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Mendeliome v0.11953 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11952 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11952 TBCK Zornitza Stark Marked gene: TBCK as ready
Mendeliome v0.11952 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Mendeliome v0.11952 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Mendeliome v0.11951 TBCK Zornitza Stark Publications for gene: TBCK were set to
Mendeliome v0.11950 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Mendeliome v0.11949 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Mendeliome v0.11949 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Mendeliome v0.11948 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Mendeliome v0.11947 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11946 TBC1D1 Zornitza Stark Marked gene: TBC1D1 as ready
Mendeliome v0.11946 TBC1D1 Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
Mendeliome v0.11946 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT; Non-syndromic renal or urinary tract malformation, MONDO:0019720
Mendeliome v0.11945 TBC1D1 Zornitza Stark Publications for gene: TBC1D1 were set to
Mendeliome v0.11944 TBC1D1 Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TBC1D1 Zornitza Stark reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26572137; Phenotypes: CAKUT, Non-syndromic renal or urinary tract malformation, MONDO:0019720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TAZ Zornitza Stark Marked gene: TAZ as ready
Mendeliome v0.11943 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Mendeliome v0.11943 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Mendeliome v0.11942 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAT Zornitza Stark Phenotypes for gene: TAT were changed from Tyrosinemia, type II, MIM# 276600 to Tyrosinaemia, type II, MIM# 276600
Mendeliome v0.11940 TAT Zornitza Stark Marked gene: TAT as ready
Mendeliome v0.11940 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Mendeliome v0.11940 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II, MIM# 276600
Mendeliome v0.11939 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11938 TAS2R38 Zornitza Stark Marked gene: TAS2R38 as ready
Mendeliome v0.11938 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11938 TAS2R38 Zornitza Stark Phenotypes for gene: TAS2R38 were changed from to [Phenylthiocarbamide tasting] 171200
Mendeliome v0.11937 TAS2R38 Zornitza Stark Mode of inheritance for gene: TAS2R38 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11936 TAS2R38 Zornitza Stark Classified gene: TAS2R38 as Red List (low evidence)
Mendeliome v0.11936 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R38 Zornitza Stark reviewed gene: TAS2R38: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Phenylthiocarbamide tasting] 171200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11935 TAS2R16 Zornitza Stark Marked gene: TAS2R16 as ready
Mendeliome v0.11935 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R16 Zornitza Stark Phenotypes for gene: TAS2R16 were changed from to [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956
Mendeliome v0.11934 TAS2R16 Zornitza Stark Mode of inheritance for gene: TAS2R16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11933 TAS2R16 Zornitza Stark Classified gene: TAS2R16 as Red List (low evidence)
Mendeliome v0.11933 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11932 TAS2R16 Zornitza Stark reviewed gene: TAS2R16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11932 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Mendeliome v0.11932 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mendeliome v0.11932 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Mendeliome v0.11931 TANGO2 Zornitza Stark Publications for gene: TANGO2 were set to
Mendeliome v0.11930 TANGO2 Zornitza Stark Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TACR3 Zornitza Stark Marked gene: TACR3 as ready
Mendeliome v0.11929 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Mendeliome v0.11929 TACR3 Zornitza Stark Phenotypes for gene: TACR3 were changed from to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Mendeliome v0.11928 TACR3 Zornitza Stark Publications for gene: TACR3 were set to
Mendeliome v0.11927 TACR3 Zornitza Stark Mode of inheritance for gene: TACR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TACR3 Zornitza Stark reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20332248, 19079066; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TAC3 Zornitza Stark Marked gene: TAC3 as ready
Mendeliome v0.11926 TAC3 Zornitza Stark Gene: tac3 has been classified as Green List (High Evidence).
Mendeliome v0.11926 TAC3 Zornitza Stark Phenotypes for gene: TAC3 were changed from to Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839
Mendeliome v0.11925 TAC3 Zornitza Stark Publications for gene: TAC3 were set to
Mendeliome v0.11924 TAC3 Zornitza Stark Mode of inheritance for gene: TAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 TAC3 Zornitza Stark reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 T Zornitza Stark Marked gene: T as ready
Mendeliome v0.11923 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11923 T Zornitza Stark Phenotypes for gene: T were changed from to Sacral agenesis with vertebral anomalies, MIM# 615709
Mendeliome v0.11922 T Zornitza Stark Publications for gene: T were set to
Mendeliome v0.11921 T Zornitza Stark Mode of inheritance for gene: T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11920 T Zornitza Stark Classified gene: T as Red List (low evidence)
Mendeliome v0.11920 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11919 T Zornitza Stark reviewed gene: T: Rating: RED; Mode of pathogenicity: None; Publications: 24253444, 28116192; Phenotypes: Sacral agenesis with vertebral anomalies 615709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11919 LAT Zornitza Stark Publications for gene: LAT were set to
Mendeliome v0.11918 TCF20 Zornitza Stark Publications for gene: TCF20 were set to 30739909; 30819258; 25228304
Mendeliome v0.11917 LAS1L Zornitza Stark Publications for gene: LAS1L were set to 25644381; 34653234; 26358559
Mendeliome v0.11916 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: GREEN; Changed phenotypes: Wilson-Turner syndrome, MIM# 309585, congenital lethal motor neuron disease
Mendeliome v0.11916 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Mendeliome v0.11915 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11914 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Mendeliome v0.11913 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Mendeliome v0.11912 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11911 LBR Alison Yeung Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140
Mendeliome v0.11910 LBR Alison Yeung Marked gene: LBR as ready
Mendeliome v0.11910 LBR Alison Yeung Gene: lbr has been classified as Green List (High Evidence).
Mendeliome v0.11910 LBR Alison Yeung Publications for gene: LBR were set to
Mendeliome v0.11909 LBR Alison Yeung Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11908 LAT Alison Yeung Marked gene: LAT as ready
Mendeliome v0.11908 LAT Alison Yeung Gene: lat has been classified as Green List (High Evidence).
Mendeliome v0.11908 LAT Alison Yeung Mode of inheritance for gene: LAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11907 LAT Alison Yeung Phenotypes for gene: LAT were changed from to Immunodeficiency 52, MIM# 617514
Mendeliome v0.11906 LAT Alison Yeung reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11906 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Mendeliome v0.11905 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Mendeliome v0.11904 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11903 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140; Corpus callosum, partial agenesis of, MIM# 304100
Mendeliome v0.11902 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, Corpus callosum, partial agenesis of, MIM# 304100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11902 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Mendeliome v0.11901 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11900 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Mendeliome v0.11900 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Mendeliome v0.11900 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
Mendeliome v0.11899 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Mendeliome v0.11898 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11897 NPPC Zornitza Stark Marked gene: NPPC as ready
Mendeliome v0.11897 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Mendeliome v0.11897 NPPC Zornitza Stark Phenotypes for gene: NPPC were changed from to short stature and non-specific skeletal anomalies - MONDO#0014551
Mendeliome v0.11896 NPPC Zornitza Stark Publications for gene: NPPC were set to
Mendeliome v0.11895 NPPC Zornitza Stark Mode of inheritance for gene: NPPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11894 NPPC Zornitza Stark Classified gene: NPPC as Red List (low evidence)
Mendeliome v0.11894 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Mendeliome v0.11893 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Mendeliome v0.11893 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Mendeliome v0.11893 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Mendeliome v0.11892 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Mendeliome v0.11891 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11890 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Mendeliome v0.11890 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Mendeliome v0.11890 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
Mendeliome v0.11889 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Mendeliome v0.11888 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11887 NONO Zornitza Stark Marked gene: NONO as ready
Mendeliome v0.11887 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Mendeliome v0.11887 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Mendeliome v0.11886 NONO Zornitza Stark Publications for gene: NONO were set to
Mendeliome v0.11885 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11884 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Mendeliome v0.11884 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11884 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 MIM#614937
Mendeliome v0.11883 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Mendeliome v0.11882 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11881 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Mendeliome v0.11881 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Marked gene: NOG as ready
Mendeliome v0.11880 NOG Zornitza Stark Gene: nog has been classified as Green List (High Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Phenotypes for gene: NOG were changed from to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Mendeliome v0.11879 NOG Zornitza Stark Publications for gene: NOG were set to
Mendeliome v0.11878 NOG Zornitza Stark Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11877 NNT Zornitza Stark Marked gene: NNT as ready
Mendeliome v0.11877 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Mendeliome v0.11877 NNT Zornitza Stark Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Mendeliome v0.11876 NNT Zornitza Stark Publications for gene: NNT were set to
Mendeliome v0.11875 NNT Zornitza Stark Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11874 NLRP7 Zornitza Stark Marked gene: NLRP7 as ready
Mendeliome v0.11874 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Mendeliome v0.11874 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from to Hydatidiform mole, recurrent, 1 - MIM#231090
Mendeliome v0.11873 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to
Mendeliome v0.11872 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11871 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Mendeliome v0.11871 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Mendeliome v0.11871 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Mendeliome v0.11870 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Mendeliome v0.11869 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11868 TCF20 Elena Savva reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34904221, 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11868 LAS1L Alison Yeung Marked gene: LAS1L as ready
Mendeliome v0.11868 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Mendeliome v0.11868 LAS1L Alison Yeung Publications for gene: LAS1L were set to
Mendeliome v0.11867 LAS1L Alison Yeung Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11866 LAS1L Alison Yeung Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Mendeliome v0.11865 LAS1L Alison Yeung edited their review of gene: LAS1L: Changed publications: 25644381, 34653234, 26358559
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 34653234, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11865 LARGE1 Alison Yeung Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840
Mendeliome v0.11864 LARGE1 Alison Yeung Marked gene: LARGE1 as ready
Mendeliome v0.11864 LARGE1 Alison Yeung Gene: large1 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LARGE1 Alison Yeung reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12966029, 19067344, 17436019, 21248746; Phenotypes: Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154, Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMC3 Alison Yeung Marked gene: LAMC3 as ready
Mendeliome v0.11864 LAMC3 Alison Yeung Gene: lamc3 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMC3 Alison Yeung reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMB2 Alison Yeung Marked gene: LAMB2 as ready
Mendeliome v0.11864 LAMB2 Alison Yeung Gene: lamb2 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMB2 Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

The two disorders are likely part of a spectrum. More than 5 unrelated families reported. ; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

More than 5 unrelated families reported.
Mendeliome v0.11864 LAMB2 Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

The two disorders are likely part of a spectrum. More than 5 unrelated families reported.
Mendeliome v0.11864 LAMB2 Alison Yeung reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11864 L1CAM Alison Yeung Marked gene: L1CAM as ready
Mendeliome v0.11864 L1CAM Alison Yeung Gene: l1cam has been classified as Green List (High Evidence).
Mendeliome v0.11864 L1CAM Alison Yeung Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
Mendeliome v0.11863 L1CAM Alison Yeung reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11863 TRIM63 Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11862 TRIM63 Zornitza Stark edited their review of gene: TRIM63: Changed rating: GREEN; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11862 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11861 MYOM1 Zornitza Stark Classified gene: MYOM1 as Red List (low evidence)
Mendeliome v0.11861 MYOM1 Zornitza Stark Gene: myom1 has been classified as Red List (Low Evidence).
Mendeliome v0.11860 MYOM1 Zornitza Stark edited their review of gene: MYOM1: Changed rating: RED; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11860 NPRL3 Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NPPC Krithika Murali reviewed gene: NPPC: Rating: RED; Mode of pathogenicity: None; Publications: 28661490, 32528716; Phenotypes: short stature and non-specific skeletal anomalies - MONDO#0014551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH1 Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NONO Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11860 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11860 NOG Krithika Murali reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NNT Krithika Murali reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP7 Krithika Murali reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23201303, 23125094, 25097207, 26606510, 19650864, 23880596, 22770628, 26544189, 28428943, 21623199, 21439709, 33583041, 32055942, 19246479, 19066229, 34189227; Phenotypes: Hydatidiform mole, recurrent, 1 - MIM#231090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Mendeliome v0.11860 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Mendeliome v0.11860 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Mendeliome v0.11859 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Mendeliome v0.11858 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11857 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11857 STAR Zornitza Stark Marked gene: STAR as ready
Mendeliome v0.11857 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Mendeliome v0.11857 STAR Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
Mendeliome v0.11856 STAR Zornitza Stark Publications for gene: STAR were set to
Mendeliome v0.11855 STAR Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Mendeliome v0.11854 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Mendeliome v0.11854 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162
Mendeliome v0.11853 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Mendeliome v0.11852 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16934001, 22573496, 26513235, 12590259, 16585605, 20841510, 21714643, 21727188; Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796, Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mendeliome v0.11851 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mendeliome v0.11851 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636; Pseudo-TORCH syndrome 3, MIM# 618886
Mendeliome v0.11850 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mendeliome v0.11849 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121, 31836668, 32092142; Phenotypes: Immunodeficiency 44, MIM# 616636, Pseudo-TORCH syndrome 3, MIM# 618886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STS Zornitza Stark Marked gene: STS as ready
Mendeliome v0.11848 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Mendeliome v0.11848 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Mendeliome v0.11847 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11846 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Mendeliome v0.11846 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Mendeliome v0.11846 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Mendeliome v0.11846 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093
Mendeliome v0.11845 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Mendeliome v0.11844 STUB1 Zornitza Stark Mode of inheritance for gene: STUB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11843 STUB1 Zornitza Stark changed review comment from: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list; to: Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset.
Sources: Expert list
Mendeliome v0.11843 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed publications: 25258038, 24742043, 32337344, 30381368, 31126790; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768, Spinocerebellar ataxia 48, MIM#618093; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11843 STX11 Zornitza Stark Marked gene: STX11 as ready
Mendeliome v0.11843 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Mendeliome v0.11843 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11842 STX11 Zornitza Stark Publications for gene: STX11 were set to
Mendeliome v0.11841 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11840 STX11 Zornitza Stark edited their review of gene: STX11: Changed phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11840 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11840 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Mendeliome v0.11840 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Mendeliome v0.11840 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Mendeliome v0.11839 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Mendeliome v0.11838 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11837 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11836 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Mendeliome v0.11836 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Mendeliome v0.11836 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Mendeliome v0.11835 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v0.11834 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11834 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Mendeliome v0.11834 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Mendeliome v0.11834 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330
Mendeliome v0.11833 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Mendeliome v0.11832 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11831 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Mendeliome v0.11831 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Mendeliome v0.11831 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6 - MIM#612281
Mendeliome v0.11830 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Mendeliome v0.11829 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11828 NHS Zornitza Stark Marked gene: NHS as ready
Mendeliome v0.11828 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Mendeliome v0.11828 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
Mendeliome v0.11827 NHS Zornitza Stark Publications for gene: NHS were set to
Mendeliome v0.11826 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Marked gene: NFKBIL1 as ready
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Phenotypes for gene: NFKBIL1 were changed from to {Rheumatoid arthritis, susceptibility to} - MIM#180300
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Classified gene: NFKBIL1 as Red List (low evidence)
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Mendeliome v0.11823 NFIA Zornitza Stark Marked gene: NFIA as ready
Mendeliome v0.11823 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11823 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Mendeliome v0.11822 NFIA Zornitza Stark Publications for gene: NFIA were set to
Mendeliome v0.11821 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11820 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11819 NEXN Zornitza Stark Marked gene: NEXN as ready
Mendeliome v0.11819 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Mendeliome v0.11819 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Mendeliome v0.11818 NEXN Zornitza Stark Publications for gene: NEXN were set to
Mendeliome v0.11817 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11816 STX1B Zornitza Stark edited their review of gene: STX1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11816 STX1B Zornitza Stark Marked gene: STX1B as ready
Mendeliome v0.11816 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Mendeliome v0.11816 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Mendeliome v0.11815 STX1B Zornitza Stark Publications for gene: STX1B were set to
Mendeliome v0.11814 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11813 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: None
Mendeliome v0.11813 STX2 Zornitza Stark Marked gene: STX2 as ready
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11813 STX2 Zornitza Stark Classified gene: STX2 as Red List (low evidence)
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX2 Zornitza Stark reviewed gene: STX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11812 STX4 Zornitza Stark Marked gene: STX4 as ready
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX4 Zornitza Stark Classified gene: STX4 as Red List (low evidence)
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11811 STX4 Zornitza Stark reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11811 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Mendeliome v0.11811 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Mendeliome v0.11811 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
Mendeliome v0.11810 STXBP2 Zornitza Stark Publications for gene: STXBP2 were set to
Mendeliome v0.11809 STXBP2 Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 STXBP2 Zornitza Stark reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Mendeliome v0.11808 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Mendeliome v0.11808 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14, MIM# 617571
Mendeliome v0.11807 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Mendeliome v0.11806 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SULT2B1 Zornitza Stark reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14, MIM# 617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Mendeliome v0.11805 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Mendeliome v0.11805 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)
Mendeliome v0.11804 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Mendeliome v0.11803 SUMF1 Zornitza Stark Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMF1 Zornitza Stark reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17360554, 25885655, 28566233; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMO4 Zornitza Stark Marked gene: SUMO4 as ready
Mendeliome v0.11802 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11802 SUMO4 Zornitza Stark Phenotypes for gene: SUMO4 were changed from to {Diabetes mellitus, insulin-dependent, 5} 600320
Mendeliome v0.11801 SUMO4 Zornitza Stark Publications for gene: SUMO4 were set to
Mendeliome v0.11800 SUMO4 Zornitza Stark Mode of inheritance for gene: SUMO4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11799 SUMO4 Zornitza Stark Classified gene: SUMO4 as Red List (low evidence)
Mendeliome v0.11799 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11798 SUMO4 Zornitza Stark reviewed gene: SUMO4: Rating: RED; Mode of pathogenicity: None; Publications: 15123604; Phenotypes: {Diabetes mellitus, insulin-dependent, 5} 600320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11798 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Mendeliome v0.11798 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Mendeliome v0.11798 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Mendeliome v0.11797 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Mendeliome v0.11796 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association with mitochondrial disease.
Mendeliome v0.11795 SURF1 Zornitza Stark reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Mendeliome v0.11795 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Mendeliome v0.11795 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Mendeliome v0.11794 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Mendeliome v0.11793 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 SUZ12 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported, ID and overgrowth.
Mendeliome v0.11792 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: ; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11792 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11792 NIPAL4 Krithika Murali reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11792 NHS Krithika Murali reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11792 NFKBIL1 Krithika Murali reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None
Mendeliome v0.11792 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NEXN Krithika Murali reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11792 NEK2 Zornitza Stark Marked gene: NEK2 as ready
Mendeliome v0.11792 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11792 NEK2 Zornitza Stark Phenotypes for gene: NEK2 were changed from to Retinitis pigmentosa 67, MIM#615565
Mendeliome v0.11791 NEK2 Zornitza Stark Publications for gene: NEK2 were set to
Mendeliome v0.11790 NEK2 Zornitza Stark Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11789 NEK2 Zornitza Stark Classified gene: NEK2 as Amber List (moderate evidence)
Mendeliome v0.11789 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11788 SYCP3 Zornitza Stark Marked gene: SYCP3 as ready
Mendeliome v0.11788 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11788 SYCP3 Zornitza Stark Phenotypes for gene: SYCP3 were changed from to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960
Mendeliome v0.11787 SYCP3 Zornitza Stark Publications for gene: SYCP3 were set to
Mendeliome v0.11786 SYCP3 Zornitza Stark Mode of inheritance for gene: SYCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11785 SYCP3 Zornitza Stark Classified gene: SYCP3 as Amber List (moderate evidence)
Mendeliome v0.11785 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11784 SYCP3 Zornitza Stark reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14643120, 19110213, 33170803; Phenotypes: Spermatogenic failure 4, MIM# 270960, Pregnancy loss, recurrent, 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11784 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Mendeliome v0.11784 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Mendeliome v0.11784 SYNE4 Zornitza Stark Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540
Mendeliome v0.11783 SYNE4 Zornitza Stark Publications for gene: SYNE4 were set to
Mendeliome v0.11782 SYNE4 Zornitza Stark Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11781 SYNE4 Zornitza Stark reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11781 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from Mental retardation, autosomal dominant 5, MIM# 612621 to Intellectual disability, autosomal dominant 5 (MIM # 612621)
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from to Mental retardation, autosomal dominant 5, MIM# 612621
Mendeliome v0.11779 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Mendeliome v0.11778 SYNGAP1 Zornitza Stark Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11777 SYNGAP1 Zornitza Stark changed review comment from: Unsteady gait and ataxia mentioned in this cohort, but appears to be a rare feature. Presentation is typically with ID/seizures/hypotonia.; to: Well established gene-disease association.
Mendeliome v0.11777 SYNGAP1 Zornitza Stark edited their review of gene: SYNGAP1: Changed publications: 26989088, 23161826, 21237447, 19196676
Mendeliome v0.11777 SYNGAP1 Zornitza Stark edited their review of gene: SYNGAP1: Changed rating: GREEN
Mendeliome v0.11777 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Mendeliome v0.11777 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Mendeliome v0.11777 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530
Mendeliome v0.11776 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Mendeliome v0.11775 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 ADCY10 Elena Savva Marked gene: ADCY10 as ready
Mendeliome v0.11774 ADCY10 Elena Savva Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11774 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Mendeliome v0.11774 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Mendeliome v0.11774 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Mendeliome v0.11773 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Mendeliome v0.11772 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11771 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11771 C2CD6 Zornitza Stark Marked gene: C2CD6 as ready
Mendeliome v0.11771 C2CD6 Zornitza Stark Gene: c2cd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11771 C2CD6 Zornitza Stark Classified gene: C2CD6 as Amber List (moderate evidence)
Mendeliome v0.11771 C2CD6 Zornitza Stark Gene: c2cd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11770 C2CD6 Zornitza Stark gene: C2CD6 was added
gene: C2CD6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C2CD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD6 were set to 34919125; 34998468; 31985809
Phenotypes for gene: C2CD6 were set to Spermatogenic failure 68 , MIM# 619805
Review for gene: C2CD6 was set to AMBER
Added comment: Single individual and two mouse models.
Sources: Expert list
Mendeliome v0.11769 CCDC62 Zornitza Stark Marked gene: CCDC62 as ready
Mendeliome v0.11769 CCDC62 Zornitza Stark Gene: ccdc62 has been classified as Red List (Low Evidence).
Mendeliome v0.11769 CCDC62 Zornitza Stark gene: CCDC62 was added
gene: CCDC62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC62 were set to 31985809; 28339613
Phenotypes for gene: CCDC62 were set to Spermatogenic failure 67, MIM# 619803
Review for gene: CCDC62 was set to RED
Added comment: Single individual reported, supportive mouse model.
Sources: Expert list
Mendeliome v0.11768 NEK2 Krithika Murali reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11768 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11768 TXNRD2 Zornitza Stark Marked gene: TXNRD2 as ready
Mendeliome v0.11768 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11768 TXNRD2 Zornitza Stark Phenotypes for gene: TXNRD2 were changed from to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502
Mendeliome v0.11767 TXNRD2 Zornitza Stark Publications for gene: TXNRD2 were set to
Mendeliome v0.11766 TXNRD2 Zornitza Stark Mode of inheritance for gene: TXNRD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11765 TXNRD2 Zornitza Stark Classified gene: TXNRD2 as Amber List (moderate evidence)
Mendeliome v0.11765 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11764 TXNRD2 Zornitza Stark changed review comment from: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.; to: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.

Evidence for association with DCM is limited, considering pop frequency of variants reported.
Mendeliome v0.11764 TXNRD2 Zornitza Stark reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34258490; Phenotypes: Glucocorticoid deficiency 5 (GCCD5), MIM#617825, MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11764 ADCY10 Zornitza Stark Marked gene: ADCY10 as ready
Mendeliome v0.11764 ADCY10 Zornitza Stark Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11764 ADCY10 Zornitza Stark Phenotypes for gene: ADCY10 were changed from to Hypercalciuria, absorptive, susceptibility to MIM#143870; asthenozoospermia with absorptive hypercalciuria
Mendeliome v0.11763 ADCY10 Zornitza Stark Mode of inheritance for gene: ADCY10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11762 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Mendeliome v0.11762 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Mendeliome v0.11762 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency , MIM#606003
Mendeliome v0.11761 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Mendeliome v0.11760 TALDO1 Zornitza Stark Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11759 USP9Y Zornitza Stark Marked gene: USP9Y as ready
Mendeliome v0.11759 USP9Y Zornitza Stark Gene: usp9y has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11759 USP9Y Zornitza Stark Phenotypes for gene: USP9Y were changed from to Spermatogenic failure, Y-linked, 2, MIM#415000
Mendeliome v0.11758 USP9Y Zornitza Stark Publications for gene: USP9Y were set to
Mendeliome v0.11757 USP9Y Zornitza Stark Mode of inheritance for gene: USP9Y was changed from Unknown to Other
Mendeliome v0.11756 USP9Y Zornitza Stark Classified gene: USP9Y as Amber List (moderate evidence)
Mendeliome v0.11756 USP9Y Zornitza Stark Gene: usp9y has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11755 USP9Y Zornitza Stark Tag SV/CNV tag was added to gene: USP9Y.
Mendeliome v0.11755 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Mendeliome v0.11754 ADAMTS10 Zornitza Stark changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects
Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.

Multiple families reported.

Sources: Expert list
Mendeliome v0.11754 ADAMTS10 Zornitza Stark edited their review of gene: ADAMTS10: Changed publications: 15368195, 18567016, 19836009
Mendeliome v0.11754 ADAMTS10 Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.
Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects
Sources: Expert list
Mendeliome v0.11754 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11753 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Mendeliome v0.11753 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Mendeliome v0.11753 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Mendeliome v0.11752 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
Mendeliome v0.11751 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11750 SARS2 Zornitza Stark reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751860; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11750 ACTN2 Zornitza Stark Mode of inheritance for gene: ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11749 ACTN2 Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence)
Mendeliome v0.11749 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11748 ACTN2 Zornitza Stark reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11748 USH2A Zornitza Stark Marked gene: USH2A as ready
Mendeliome v0.11748 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Mendeliome v0.11748 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901; Retinitis pigmentosa 39, MIM#613809
Mendeliome v0.11747 USH2A Zornitza Stark Publications for gene: USH2A were set to
Mendeliome v0.11746 USH2A Zornitza Stark Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11745 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mendeliome v0.11745 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mendeliome v0.11745 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mendeliome v0.11744 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mendeliome v0.11743 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11742 USH1G Zornitza Stark Marked gene: USH1G as ready
Mendeliome v0.11742 USH1G Zornitza Stark Gene: ush1g has been classified as Green List (High Evidence).
Mendeliome v0.11742 USH1G Zornitza Stark Phenotypes for gene: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943
Mendeliome v0.11741 USH1G Zornitza Stark Publications for gene: USH1G were set to
Mendeliome v0.11740 USH1G Zornitza Stark Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11739 USH1C Zornitza Stark Marked gene: USH1C as ready
Mendeliome v0.11739 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Mendeliome v0.11739 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Mendeliome v0.11738 USH1C Zornitza Stark Publications for gene: USH1C were set to
Mendeliome v0.11737 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11736 UROS Zornitza Stark Marked gene: UROS as ready
Mendeliome v0.11736 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Mendeliome v0.11736 UROS Zornitza Stark Phenotypes for gene: UROS were changed from to Porphyria, congenital erythropoietic (MIM#263700)
Mendeliome v0.11735 UROS Zornitza Stark Publications for gene: UROS were set to
Mendeliome v0.11734 UROS Zornitza Stark Mode of inheritance for gene: UROS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11733 NDUFS5 Zornitza Stark Marked gene: NDUFS5 as ready
Mendeliome v0.11733 NDUFS5 Zornitza Stark Gene: ndufs5 has been classified as Red List (Low Evidence).
Mendeliome v0.11733 NDUFS5 Zornitza Stark Classified gene: NDUFS5 as Red List (low evidence)
Mendeliome v0.11733 NDUFS5 Zornitza Stark Gene: ndufs5 has been classified as Red List (Low Evidence).
Mendeliome v0.11732 TXNRD2 Manny Jacobs reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24601690, PMID: 21247928; Phenotypes: # 617825 Glucocorticoid deficiency 5 (GCCD5) MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11732 ADCY10 Elena Savva Publications for gene: ADCY10 were set to
Mendeliome v0.11731 ADCY10 Elena Savva Mode of inheritance for gene: ADCY10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11731 ADCY10 Elena Savva Classified gene: ADCY10 as Amber List (moderate evidence)
Mendeliome v0.11731 ADCY10 Elena Savva Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11730 ADCY10 Elena Savva reviewed gene: ADCY10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11932268, 31119281, 25296721, 32913531, 34463764; Phenotypes: Hypercalciuria, absorptive, susceptibility to MIM#143870, asthenozoospermia with absorptive hypercalciuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11730 USP9Y Belinda Chong reviewed gene: USP9Y: Rating: AMBER; Mode of pathogenicity: None; Publications: 10581029, 17213277, 15509635, 19737515; Phenotypes: Spermatogenic failure, Y-linked, 2, MIM#415000; Mode of inheritance: Other
Mendeliome v0.11730 ADAT3 Elena Savva Marked gene: ADAT3 as ready
Mendeliome v0.11730 ADAT3 Elena Savva Gene: adat3 has been classified as Green List (High Evidence).
Mendeliome v0.11730 ADAT3 Elena Savva Publications for gene: ADAT3 were set to
Mendeliome v0.11730 ADAT3 Elena Savva Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286
Mendeliome v0.11730 ADAT3 Elena Savva Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11729 ADAMTS10 Elena Savva Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive, MIM#277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600
Mendeliome v0.11728 ADAMTS10 Elena Savva Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Mendeliome v0.11727 ADAMTS10 Elena Savva Marked gene: ADAMTS10 as ready
Mendeliome v0.11727 ADAMTS10 Elena Savva Gene: adamts10 has been classified as Green List (High Evidence).
Mendeliome v0.11727 ADAMTS10 Elena Savva Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11726 ADAM9 Elena Savva Mode of inheritance for gene: ADAM9 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11725 ADAM9 Elena Savva Phenotypes for gene: ADAM9 were changed from Cone-rod dystrophy 9 MIM#612775 to Cone-rod dystrophy 9 MIM#612775
Mendeliome v0.11725 ADAM9 Elena Savva Publications for gene: ADAM9 were set to PMID: 25091951; 19409519
Mendeliome v0.11724 ADAM9 Elena Savva Publications for gene: ADAM9 were set to
Mendeliome v0.11724 ADAM9 Elena Savva Mode of inheritance for gene: ADAM9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11724 ADAM9 Elena Savva Phenotypes for gene: ADAM9 were changed from to Cone-rod dystrophy 9 MIM#612775
Mendeliome v0.11723 ADAM9 Elena Savva Marked gene: ADAM9 as ready
Mendeliome v0.11723 ADAM9 Elena Savva Gene: adam9 has been classified as Green List (High Evidence).
Mendeliome v0.11723 ADAM9 Elena Savva reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25091951, 19409519; Phenotypes: Cone-rod dystrophy 9 MIM#612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11723 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11723 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11722 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11721 ACVRL1 Elena Savva Publications for gene: ACVRL1 were set to
Mendeliome v0.11721 ACVRL1 Elena Savva Marked gene: ACVRL1 as ready
Mendeliome v0.11721 ACVRL1 Elena Savva Gene: acvrl1 has been classified as Green List (High Evidence).
Mendeliome v0.11721 ACVRL1 Elena Savva Mode of inheritance for gene: ACVRL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11720 ACVRL1 Elena Savva reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11720 ACTN2 Elena Savva Phenotypes for gene: ACTN2 were changed from Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654 to Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654
Mendeliome v0.11720 ACTN2 Elena Savva Publications for gene: ACTN2 were set to PMID: 34802252; 27287556
Mendeliome v0.11719 SARS2 Samantha Ayres reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276, 21255763; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11719 ACTN2 Elena Savva Phenotypes for gene: ACTN2 were changed from to Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654
Mendeliome v0.11718 ACTN2 Elena Savva Publications for gene: ACTN2 were set to
Mendeliome v0.11718 ACTN2 Elena Savva Marked gene: ACTN2 as ready
Mendeliome v0.11718 ACTN2 Elena Savva Gene: actn2 has been classified as Green List (High Evidence).
Mendeliome v0.11718 ACTN2 Elena Savva Mode of inheritance for gene: ACTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11717 ACTN2 Elena Savva reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34802252, 27287556; Phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11717 ACADSB Elena Savva Marked gene: ACADSB as ready
Mendeliome v0.11717 ACADSB Elena Savva Gene: acadsb has been classified as Green List (High Evidence).
Mendeliome v0.11717 ACTG1 Elena Savva Publications for gene: ACTG1 were set to
Mendeliome v0.11718 ACTG1 Elena Savva Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2 MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
Mendeliome v0.11717 ACTG1 Elena Savva Mode of pathogenicity for gene: ACTG1 was changed from to Other
Mendeliome v0.11717 ACTG1 Elena Savva Marked gene: ACTG1 as ready
Mendeliome v0.11717 ACTG1 Elena Savva Gene: actg1 has been classified as Green List (High Evidence).
Mendeliome v0.11717 ACTG1 Elena Savva Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11716 ACTG1 Elena Savva reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29620237; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11716 ACHE Elena Savva Marked gene: ACHE as ready
Mendeliome v0.11716 ACHE Elena Savva Gene: ache has been classified as Red List (Low Evidence).
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Publications for gene: ACP4 were set to 28513613; 27843125; 33552707
Mendeliome v0.11715 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11715 ACP4 Elena Savva Publications for gene: ACP4 were set to
Mendeliome v0.11714 ACP4 Elena Savva Marked gene: ACP4 as ready
Mendeliome v0.11714 ACP4 Elena Savva Gene: acp4 has been classified as Green List (High Evidence).
Mendeliome v0.11714 ACP4 Elena Savva Mode of inheritance for gene: ACP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11713 ACHE Elena Savva Publications for gene: ACHE were set to
Mendeliome v0.11713 ACHE Elena Savva Phenotypes for gene: ACHE were changed from to [Blood group, Yt system] MIM#112100
Mendeliome v0.11712 ACHE Elena Savva Classified gene: ACHE as Red List (low evidence)
Mendeliome v0.11712 ACHE Elena Savva Gene: ache has been classified as Red List (Low Evidence).
Mendeliome v0.11711 ACHE Elena Savva reviewed gene: ACHE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12783426, 8488842; Phenotypes: [Blood group, Yt system] MIM#112100; Mode of inheritance: Unknown
Mendeliome v0.11711 ACADSB Elena Savva Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria MIM#610006
Mendeliome v0.11710 UNG Zornitza Stark Mode of inheritance for gene: UNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11709 ACADSB Elena Savva Publications for gene: ACADSB were set to
Mendeliome v0.11709 ACADSB Elena Savva Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11708 ACADSB Elena Savva reviewed gene: ACADSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25778941, 17945527; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11708 WAS Zornitza Stark Marked gene: WAS as ready
Mendeliome v0.11708 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Mendeliome v0.11708 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopaenia, X-linked, MIM# 313900; Neutropenia, severe congenital, X-linked , MIM#300299
Mendeliome v0.11707 WAS Zornitza Stark Publications for gene: WAS were set to
Mendeliome v0.11706 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11705 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome, MIM# 301000, Thrombocytopaenia, X-linked, MIM# 313900, Neutropenia, severe congenital, X-linked , MIM#300299; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11705 WAS Abhijit Kulkarni reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30969660, 34307257, 20301357; Phenotypes: Congenital Neutropenia, Throbocytopenia, Immunodefeciency, Eczema; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11705 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Mendeliome v0.11704 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Mendeliome v0.11703 UNC13D Zornitza Stark Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11702 C8A Zornitza Stark Marked gene: C8A as ready
Mendeliome v0.11702 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11702 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Mendeliome v0.11701 C8A Zornitza Stark Publications for gene: C8A were set to
Mendeliome v0.11700 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11699 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Mendeliome v0.11699 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11698 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Mendeliome v0.11698 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Mendeliome v0.11698 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Mendeliome v0.11697 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Mendeliome v0.11696 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11695 UNC119 Zornitza Stark Marked gene: UNC119 as ready
Mendeliome v0.11695 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Mendeliome v0.11695 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from to Cone-rod dystrophy, MONDO:0015993; Immunodeficiency 13 MIM#615518
Mendeliome v0.11694 UNC119 Zornitza Stark Publications for gene: UNC119 were set to
Mendeliome v0.11693 UNC119 Zornitza Stark Mode of inheritance for gene: UNC119 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11692 UNC119 Zornitza Stark Classified gene: UNC119 as Green List (high evidence)
Mendeliome v0.11692 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Mendeliome v0.11691 UNC119 Zornitza Stark changed review comment from: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.

Amber for association with cone-rod dystrophy.; to: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.

Borderline Green for association with cone-rod dystrophy.
Mendeliome v0.11691 UNC119 Zornitza Stark edited their review of gene: UNC119: Changed rating: GREEN
Mendeliome v0.11691 UNC119 Zornitza Stark Classified gene: UNC119 as Amber List (moderate evidence)
Mendeliome v0.11691 UNC119 Zornitza Stark Gene: unc119 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11690 UNC119 Zornitza Stark reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: None; Publications: 22184408; Phenotypes: Cone-rod dystrophy, MONDO:0015993, Immunodeficiency 13 MIM#615518; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11690 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Mendeliome v0.11690 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Mendeliome v0.11690 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM#617053; Tumoral calcinosis, familial, normophosphatemic, MIM#610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041
Mendeliome v0.11689 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Mendeliome v0.11688 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11687 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11687 UCP3 Zornitza Stark Marked gene: UCP3 as ready
Mendeliome v0.11687 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11687 UCP3 Zornitza Stark Publications for gene: UCP3 were set to
Mendeliome v0.11686 UCP3 Zornitza Stark Phenotypes for gene: UCP3 were changed from to {Obesity, severe, and type II diabetes}, MIM#601665
Mendeliome v0.11685 UCP3 Zornitza Stark Mode of inheritance for gene: UCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11684 UCP3 Zornitza Stark Classified gene: UCP3 as Red List (low evidence)
Mendeliome v0.11684 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11683 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mendeliome v0.11683 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mendeliome v0.11683 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mendeliome v0.11682 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mendeliome v0.11681 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11680 USH2A Belinda Chong Deleted their comment
Mendeliome v0.11680 USH2A Belinda Chong edited their review of gene: USH2A: Added comment: Well established gene-disease association - Usher syndrome, DEFINITIVE by ClinGen.

PMID 20507924: Screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.

https://www.ncbi.nlm.nih.gov/books/NBK1341/, PMID 17296898, ClinVar
Reports of cosegregation of Usher Syndrome and Retinitis Pigmentosa; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11680 USH2A Belinda Chong reviewed gene: USH2A: Rating: ; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Usher syndrome, type 2A, MIM# 276901, Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.11680 C4A Zornitza Stark Marked gene: C4A as ready
Mendeliome v0.11680 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11680 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11680 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mendeliome v0.11680 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mendeliome v0.11680 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mendeliome v0.11679 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mendeliome v0.11678 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11677 USH1G Belinda Chong reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 12588794, 21044053; Phenotypes: Usher syndrome, type 1G, MIM# 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11677 C4A Ain Roesley edited their review of gene: C4A: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11677 C4A Ain Roesley Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mendeliome v0.11676 C4A Ain Roesley Publications for gene: C4A were set to
Mendeliome v0.11675 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11675 C4A Ain Roesley Classified gene: C4A as Amber List (moderate evidence)
Mendeliome v0.11675 C4A Ain Roesley Gene: c4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4A Ain Roesley Tag SV/CNV tag was added to gene: C4A.
Mendeliome v0.11674 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Mendeliome v0.11674 C4A Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B

There are no LP/P SNV in clinvar

PMID: 32048120; 2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Mendeliome v0.11674 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 USH1C Belinda Chong reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11674 C4B Ain Roesley Marked gene: C4B as ready
Mendeliome v0.11674 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4B Zornitza Stark Marked gene: C4B as ready
Mendeliome v0.11674 C4B Zornitza Stark Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4B Ain Roesley Phenotypes for gene: C4B were changed from susceptibility to autoimmune disease; C4B deficiency MIM#614379 to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Mendeliome v0.11674 C4B Zornitza Stark Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Mendeliome v0.11673 C4B Zornitza Stark Publications for gene: C4B were set to 34764957; 12626442; 22387014; 17503323; 32048120
Mendeliome v0.11672 C4B Ain Roesley Publications for gene: C4B were set to
Mendeliome v0.11671 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11670 C4B Zornitza Stark Mode of inheritance for gene: C4B was changed from Unknown to Other
Mendeliome v0.11669 UROS Belinda Chong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11669 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Mendeliome v0.11669 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11668 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Mendeliome v0.11668 C4B Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A

no LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Mendeliome v0.11668 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER; Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Mendeliome v0.11668 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mendeliome v0.11668 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mendeliome v0.11668 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mendeliome v0.11667 NDUFS5 Krithika Murali reviewed gene: NDUFS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11667 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Mendeliome v0.11666 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11665 UCP3 Belinda Chong edited their review of gene: UCP3: Changed rating: RED
Mendeliome v0.11665 UCP3 Belinda Chong changed review comment from: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X).

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X; to: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X). Single pathogenic variant in ClinVar

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X
Mendeliome v0.11665 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11665 UROD Belinda Chong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23545314, 30514647, 9792863; Phenotypes: Porphyria cutanea tarda, Porphyria, hepatoerythropoietic (MIM#176100); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UQCRB Belinda Chong commented on gene: UQCRB: Three families, two had the same variant. Functional data.
Mendeliome v0.11665 UQCRB Belinda Chong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789, 25446085, 23454382; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UQCC2 Belinda Chong reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UNG Belinda Chong reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12958596; Phenotypes: Immunodeficiency with hyper IgM, type 5, MIM#608106; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UNC13D Belinda Chong reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 C9 Ain Roesley Marked gene: C9 as ready
Mendeliome v0.11665 C9 Ain Roesley Gene: c9 has been classified as Green List (High Evidence).
Mendeliome v0.11665 C9 Ain Roesley Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Mendeliome v0.11664 C9 Ain Roesley Publications for gene: C9 were set to
Mendeliome v0.11663 C9 Ain Roesley Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11662 C9 Ain Roesley reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11662 C8B Ain Roesley Marked gene: C8B as ready
Mendeliome v0.11662 C8B Ain Roesley Gene: c8b has been classified as Green List (High Evidence).
Mendeliome v0.11662 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Mendeliome v0.11661 C8B Ain Roesley Publications for gene: C8B were set to
Mendeliome v0.11660 C8B Ain Roesley Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11659 C8B Ain Roesley reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11659 C8A Ain Roesley changed review comment from: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)

PMID: 8098723; 3 families hom for a nonsense and 2 families 3rd het for the same nonsense and unknown 2nd allele

Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.; to: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)


Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.
Mendeliome v0.11659 C8A Ain Roesley edited their review of gene: C8A: Changed publications: 9759902, 32769119
Mendeliome v0.11659 C8A Ain Roesley reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119, 8098723; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11659 SAMHD1 Samantha Ayres reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11659 UNC119 Belinda Chong reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11659 SAMD9 Samantha Ayres reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33237688, 32619790, 16960814, 18094730; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM#619041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11659 UCP3 Belinda Chong reviewed gene: UCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10618503, 11238538, 21544083; Phenotypes: {Obesity, severe, and type II diabetes}; Mode of inheritance: Other
Mendeliome v0.11659 C7 Ain Roesley Marked gene: C7 as ready
Mendeliome v0.11659 C7 Ain Roesley Gene: c7 has been classified as Green List (High Evidence).
Mendeliome v0.11659 C7 Ain Roesley Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102
Mendeliome v0.11658 C7 Ain Roesley Publications for gene: C7 were set to
Mendeliome v0.11657 C7 Ain Roesley Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11656 C7 Ain Roesley reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11656 C6 Ain Roesley Phenotypes for gene: C6 were changed from C6 deficiency MIM#612446 to C6 deficiency MIM#612446
Mendeliome v0.11655 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Mendeliome v0.11654 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11653 C6 Ain Roesley Publications for gene: C6 were set to
Mendeliome v0.11653 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Mendeliome v0.11653 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11652 C6 Ain Roesley Marked gene: C6 as ready
Mendeliome v0.11652 C6 Ain Roesley Gene: c6 has been classified as Green List (High Evidence).
Mendeliome v0.11652 C6 Ain Roesley reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11652 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11652 C5 Ain Roesley Marked gene: C5 as ready
Mendeliome v0.11652 C5 Ain Roesley Gene: c5 has been classified as Green List (High Evidence).
Mendeliome v0.11652 C5 Ain Roesley Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Mendeliome v0.11651 C5 Ain Roesley Publications for gene: C5 were set to
Mendeliome v0.11650 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11649 C5 Ain Roesley reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11649 C4A Ain Roesley reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.11649 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11649 C4B Ain Roesley edited their review of gene: C4B: Changed phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379
Mendeliome v0.11649 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.11649 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11649 C3 Ain Roesley Marked gene: C3 as ready
Mendeliome v0.11649 C3 Ain Roesley Gene: c3 has been classified as Green List (High Evidence).
Mendeliome v0.11649 C3 Ain Roesley Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779
Mendeliome v0.11648 C3 Ain Roesley Publications for gene: C3 were set to
Mendeliome v0.11647 C3 Ain Roesley Mode of pathogenicity for gene: C3 was changed from to None
Mendeliome v0.11646 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11645 C3 Ain Roesley reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11645 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Mendeliome v0.11645 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence).
Mendeliome v0.11645 SMARCA4 Zornitza Stark Phenotypes for gene: SMARCA4 were changed from to Coffin-Siris syndrome 4, MIM# 614609
Mendeliome v0.11644 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to
Mendeliome v0.11643 SMARCA4 Zornitza Stark Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11642 SMARCA4 Zornitza Stark reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4, MIM# 614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11642 SMAD9 Zornitza Stark Marked gene: SMAD9 as ready
Mendeliome v0.11642 SMAD9 Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence).
Mendeliome v0.11642 SMAD9 Zornitza Stark Phenotypes for gene: SMAD9 were changed from to Pulmonary hypertension, primary, 2 MIM#615342
Mendeliome v0.11641 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to
Mendeliome v0.11640 SMAD9 Zornitza Stark Mode of inheritance for gene: SMAD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11639 SMAD9 Zornitza Stark reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29844917, 21920918, 19211612, 21898662; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11639 SMAD7 Zornitza Stark Marked gene: SMAD7 as ready
Mendeliome v0.11639 SMAD7 Zornitza Stark Gene: smad7 has been classified as Red List (Low Evidence).
Mendeliome v0.11639 SMAD7 Zornitza Stark Phenotypes for gene: SMAD7 were changed from to {Colorectal cancer, susceptibility to, 3} 612229
Mendeliome v0.11638 SMAD7 Zornitza Stark Mode of inheritance for gene: SMAD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11637 SMAD7 Zornitza Stark Classified gene: SMAD7 as Red List (low evidence)
Mendeliome v0.11637 SMAD7 Zornitza Stark Gene: smad7 has been classified as Red List (Low Evidence).
Mendeliome v0.11636 SMAD7 Zornitza Stark edited their review of gene: SMAD7: Changed phenotypes: {Colorectal cancer, susceptibility to, 3} 612229
Mendeliome v0.11636 SMAD7 Zornitza Stark reviewed gene: SMAD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11636 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Mendeliome v0.11636 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Mendeliome v0.11636 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050; Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210
Mendeliome v0.11635 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Mendeliome v0.11634 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11633 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044, 15235019, 16613914, 20101697, 22158539, 22243968; Phenotypes: Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050, Polyposis, juvenile intestinal, MIM# 174900, Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11633 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Mendeliome v0.11633 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Mendeliome v0.11633 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from to Deafness and myopia, MIM#221200
Mendeliome v0.11632 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to
Mendeliome v0.11631 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11630 SLITRK6 Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497, 23543054; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11630 SLITRK1 Zornitza Stark Marked gene: SLITRK1 as ready
Mendeliome v0.11630 SLITRK1 Zornitza Stark Gene: slitrk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11630 SLITRK1 Zornitza Stark Phenotypes for gene: SLITRK1 were changed from to Tourette syndrome, MIM# 137580
Mendeliome v0.11629 SLITRK1 Zornitza Stark Publications for gene: SLITRK1 were set to
Mendeliome v0.11628 SLITRK1 Zornitza Stark Mode of inheritance for gene: SLITRK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11627 SLITRK1 Zornitza Stark Classified gene: SLITRK1 as Red List (low evidence)
Mendeliome v0.11627 SLITRK1 Zornitza Stark Gene: slitrk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11626 SLITRK1 Zornitza Stark Tag disputed tag was added to gene: SLITRK1.
Mendeliome v0.11626 SLITRK1 Zornitza Stark reviewed gene: SLITRK1: Rating: RED; Mode of pathogenicity: None; Publications: 17304708, 35140465, 26317387; Phenotypes: Tourette syndrome, MIM# 137580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Marked gene: SLCO1B3 as ready
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Gene: slco1b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Phenotypes for gene: SLCO1B3 were changed from to Hyperbilirubinemia, Rotor type, digenic, MIM# 237450
Mendeliome v0.11625 SLCO1B3 Zornitza Stark Publications for gene: SLCO1B3 were set to
Mendeliome v0.11624 SLCO1B1 Zornitza Stark Publications for gene: SLCO1B1 were set to 30250148; 24918167
Mendeliome v0.11623 SLCO1B1 Zornitza Stark Mode of inheritance for gene: SLCO1B1 was changed from Unknown to Other
Mendeliome v0.11622 SLCO1B1 Zornitza Stark Classified gene: SLCO1B1 as Amber List (moderate evidence)
Mendeliome v0.11622 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11621 SLCO1B1 Zornitza Stark Deleted their comment
Mendeliome v0.11621 SLCO1B1 Zornitza Stark edited their review of gene: SLCO1B1: Added comment: Digenic inheritance proposed, with variants in SLCO1B3 also required.; Changed rating: AMBER; Changed publications: 33860121; Changed phenotypes: Hyperbilirubinemia, Rotor type, digenic 237450; Changed mode of inheritance: Other
Mendeliome v0.11621 SLCO1B3 Zornitza Stark Mode of inheritance for gene: SLCO1B3 was changed from Unknown to Other
Mendeliome v0.11620 SLCO1B3 Zornitza Stark Classified gene: SLCO1B3 as Amber List (moderate evidence)
Mendeliome v0.11620 SLCO1B3 Zornitza Stark Gene: slco1b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11619 SLCO1B3 Zornitza Stark reviewed gene: SLCO1B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33860121; Phenotypes: Hyperbilirubinemia, Rotor type, digenic, MIM# 237450; Mode of inheritance: Other
Mendeliome v0.11619 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Mendeliome v0.11619 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Mendeliome v0.11619 SLC9A9 Zornitza Stark Phenotypes for gene: SLC9A9 were changed from to Autism susceptibility 16, MIM# 613410
Mendeliome v0.11618 SLC9A9 Zornitza Stark Publications for gene: SLC9A9 were set to
Mendeliome v0.11617 SLC9A9 Zornitza Stark Mode of inheritance for gene: SLC9A9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11616 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Mendeliome v0.11616 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Mendeliome v0.11615 SLC9A9 Zornitza Stark reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 14569117, 27123481, 26185613; Phenotypes: Autism susceptibility 16, MIM# 613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11615 SLC7A9 Zornitza Stark Marked gene: SLC7A9 as ready
Mendeliome v0.11615 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Mendeliome v0.11615 SLC7A9 Zornitza Stark Phenotypes for gene: SLC7A9 were changed from to Cystinuria, MIM# 220100
Mendeliome v0.11614 SLC7A9 Zornitza Stark Publications for gene: SLC7A9 were set to
Mendeliome v0.11613 SLC7A9 Zornitza Stark Mode of inheritance for gene: SLC7A9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11612 SLC7A9 Zornitza Stark reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11612 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Mendeliome v0.11612 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Mendeliome v0.11612 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine, MIM# 617301
Mendeliome v0.11611 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Mendeliome v0.11610 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429, 14622582, 33269555; Phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Mendeliome v0.11609 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Mendeliome v0.11609 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Mendeliome v0.11608 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Mendeliome v0.11607 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11606 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Mendeliome v0.11605 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Mendeliome v0.11604 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11603 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 26617416, 28964717, 32598042, 35220637, 12881724, 15605415, 33005041, 20016754, 20137773, 20137772; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Cole disease, MIM# 615522, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11603 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Mendeliome v0.11603 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Mendeliome v0.11603 VMA21 Zornitza Stark Phenotypes for gene: VMA21 were changed from to Myopathy, X-linked, with excessive autophagy, MIM# 310440
Mendeliome v0.11602 VMA21 Zornitza Stark Publications for gene: VMA21 were set to
Mendeliome v0.11601 VMA21 Zornitza Stark Mode of inheritance for gene: VMA21 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11600 VMA21 Zornitza Stark Tag deep intronic tag was added to gene: VMA21.
Mendeliome v0.11600 VMA21 Zornitza Stark reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026; Phenotypes: Myopathy, X-linked, with excessive autophagy, MIM# 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11600 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Mendeliome v0.11600 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Mendeliome v0.11600 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Mendeliome v0.11599 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Mendeliome v0.11598 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11597 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11597 VPS35 Zornitza Stark Marked gene: VPS35 as ready
Mendeliome v0.11597 VPS35 Zornitza Stark Gene: vps35 has been classified as Green List (High Evidence).
Mendeliome v0.11597 VPS35 Zornitza Stark Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203
Mendeliome v0.11596 VPS35 Zornitza Stark Publications for gene: VPS35 were set to
Mendeliome v0.11595 VPS35 Zornitza Stark Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11594 VPS35 Zornitza Stark edited their review of gene: VPS35: Changed rating: GREEN
Mendeliome v0.11594 VPS35 Zornitza Stark reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 21763482, 21763483, 22801713, 34704029; Phenotypes: Parkinson disease 17, MIM# 614203; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11594 VSX1 Zornitza Stark Marked gene: VSX1 as ready
Mendeliome v0.11594 VSX1 Zornitza Stark Gene: vsx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11594 VSX1 Zornitza Stark Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300
Mendeliome v0.11593 VSX1 Zornitza Stark Publications for gene: VSX1 were set to
Mendeliome v0.11592 VSX1 Zornitza Stark Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11591 VSX1 Zornitza Stark Classified gene: VSX1 as Amber List (moderate evidence)
Mendeliome v0.11591 VSX1 Zornitza Stark Gene: vsx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11590 VSX1 Zornitza Stark reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11978762, 35296157, 30574758, 30535423, 25963163; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11590 VWF Zornitza Stark Marked gene: VWF as ready
Mendeliome v0.11590 VWF Zornitza Stark Gene: vwf has been classified as Green List (High Evidence).
Mendeliome v0.11590 VWF Zornitza Stark Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM# 193400; von Willebrand disease, type 3 , MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554
Mendeliome v0.11589 VWF Zornitza Stark Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11588 VWF Zornitza Stark reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM# 193400, von Willebrand disease, type 3 , MIM#277480, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11588 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Mendeliome v0.11588 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Mendeliome v0.11588 VKORC1 Zornitza Stark Phenotypes for gene: VKORC1 were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473; Warfarin resistance, MIM# 122700
Mendeliome v0.11587 VKORC1 Zornitza Stark Publications for gene: VKORC1 were set to
Mendeliome v0.11586 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Mendeliome v0.11586 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Mendeliome v0.11586 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Mendeliome v0.11585 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Mendeliome v0.11584 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11583 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11583 VEGFA Zornitza Stark Marked gene: VEGFA as ready
Mendeliome v0.11583 VEGFA Zornitza Stark Gene: vegfa has been classified as Red List (Low Evidence).
Mendeliome v0.11583 VEGFA Zornitza Stark Phenotypes for gene: VEGFA were changed from to {Microvascular complications of diabetes 1} 603933
Mendeliome v0.11582 VEGFA Zornitza Stark Classified gene: VEGFA as Red List (low evidence)
Mendeliome v0.11582 VEGFA Zornitza Stark Gene: vegfa has been classified as Red List (Low Evidence).
Mendeliome v0.11581 VEGFA Zornitza Stark reviewed gene: VEGFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 1} 603933; Mode of inheritance: None
Mendeliome v0.11581 VDR Zornitza Stark Marked gene: VDR as ready
Mendeliome v0.11581 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
Mendeliome v0.11581 VDR Zornitza Stark Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Mendeliome v0.11580 VDR Zornitza Stark Publications for gene: VDR were set to
Mendeliome v0.11579 VDR Zornitza Stark Mode of inheritance for gene: VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11578 VDR Zornitza Stark reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 2849209, 9005998, 17970811; Phenotypes: Rickets, vitamin D-resistant, type IIA, MIM# 277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11578 VCL Zornitza Stark Marked gene: VCL as ready
Mendeliome v0.11578 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Mendeliome v0.11578 VCL Zornitza Stark Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407
Mendeliome v0.11577 VCL Zornitza Stark Publications for gene: VCL were set to
Mendeliome v0.11576 VCL Zornitza Stark Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11575 VCL Zornitza Stark reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437, 17097056; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11575 VANGL2 Zornitza Stark Marked gene: VANGL2 as ready
Mendeliome v0.11575 VANGL2 Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence).
Mendeliome v0.11575 VANGL2 Zornitza Stark Phenotypes for gene: VANGL2 were changed from to Neural tube defects, MIM# 182940
Mendeliome v0.11574 VANGL2 Zornitza Stark Publications for gene: VANGL2 were set to
Mendeliome v0.11573 VANGL2 Zornitza Stark Mode of inheritance for gene: VANGL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11572 VANGL2 Zornitza Stark Classified gene: VANGL2 as Red List (low evidence)
Mendeliome v0.11572 VANGL2 Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence).
Mendeliome v0.11571 VANGL2 Zornitza Stark reviewed gene: VANGL2: Rating: RED; Mode of pathogenicity: None; Publications: 20558380, 20738329, 34842271; Phenotypes: Neural tube defects, MIM# 182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11571 VANGL1 Zornitza Stark Marked gene: VANGL1 as ready
Mendeliome v0.11571 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Mendeliome v0.11571 VANGL1 Zornitza Stark Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, MIM# 600145; {Neural tube defects, susceptibility to} 182940
Mendeliome v0.11570 VANGL1 Zornitza Stark Publications for gene: VANGL1 were set to
Mendeliome v0.11569 VANGL1 Zornitza Stark Mode of inheritance for gene: VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11568 VANGL1 Zornitza Stark Classified gene: VANGL1 as Red List (low evidence)
Mendeliome v0.11568 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Mendeliome v0.11567 VANGL1 Zornitza Stark reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: 17409324; Phenotypes: Caudal regression syndrome, MIM# 600145, {Neural tube defects, susceptibility to} 182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11567 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Mendeliome v0.11567 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Mendeliome v0.11567 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from to Myasthenic syndrome, congenital, 25, MIM# 618323; Spastic ataxia 1, autosomal dominant, MIM# 108600
Mendeliome v0.11566 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Mendeliome v0.11565 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11564 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Mendeliome v0.11564 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983, 22958904; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323, Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11564 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mendeliome v0.11564 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mendeliome v0.11564 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mendeliome v0.11563 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mendeliome v0.11562 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Marked gene: NDUFAF7 as ready
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Phenotypes for gene: NDUFAF7 were changed from to Pathologic myopia
Mendeliome v0.11560 NDUFAF7 Zornitza Stark Publications for gene: NDUFAF7 were set to
Mendeliome v0.11559 NDUFAF7 Zornitza Stark Mode of inheritance for gene: NDUFAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11558 NDUFAF7 Zornitza Stark Classified gene: NDUFAF7 as Red List (low evidence)
Mendeliome v0.11558 NDUFAF7 Zornitza Stark Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mendeliome v0.11557 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related
Mendeliome v0.11556 FRA10AC1 Zornitza Stark Publications for gene: FRA10AC1 were set to 15203205
Mendeliome v0.11555 FRA10AC1 Zornitza Stark Mode of inheritance for gene: FRA10AC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mendeliome v0.11553 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mendeliome v0.11552 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11551 EDARADD Bryony Thompson Marked gene: EDARADD as ready
Mendeliome v0.11551 EDARADD Bryony Thompson Gene: edaradd has been classified as Green List (High Evidence).
Mendeliome v0.11551 EDARADD Bryony Thompson Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11550 EDARADD Bryony Thompson reviewed gene: EDARADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301291, 34219261, 11780064, 26991760, 34573371, 20979233, 17354266, 26440664; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11550 EDAR Bryony Thompson Marked gene: EDAR as ready
Mendeliome v0.11550 EDAR Bryony Thompson Gene: edar has been classified as Green List (High Evidence).
Mendeliome v0.11550 EDAR Bryony Thompson Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Mendeliome v0.11549 EDAR Bryony Thompson Publications for gene: EDAR were set to
Mendeliome v0.11548 EDAR Bryony Thompson Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11547 EDAR Bryony Thompson reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 20301291, 16435307, 20979233, 23401279, 18384562; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mendeliome v0.11546 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mendeliome v0.11545 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11544 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mendeliome v0.11544 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mendeliome v0.11544 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mendeliome v0.11543 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mendeliome v0.11542 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11541 NDUFB8 Krithika Murali reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11541 NDUFAF7 Krithika Murali reviewed gene: NDUFAF7: Rating: RED; Mode of pathogenicity: None; Publications: 28837730; Phenotypes: Pathologic myopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11541 FRA10AC1 Ain Roesley Classified gene: FRA10AC1 as Green List (high evidence)
Mendeliome v0.11541 FRA10AC1 Ain Roesley Gene: fra10ac1 has been classified as Green List (High Evidence).
Mendeliome v0.11540 NDUFAF4 Krithika Murali Deleted their comment
Mendeliome v0.11540 NDUFAF4 Krithika Murali edited their review of gene: NDUFAF4: Added comment: 3 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID.; Changed publications: 32949790, 28853723, 18179882
Mendeliome v0.11540 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11540 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11540 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Mendeliome v0.11540 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Mendeliome v0.11540 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133; Epileptic encephalopathy, early infantile, 44 617132; Hypomyelinating neuropathy
Mendeliome v0.11539 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Mendeliome v0.11538 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11537 UBA5 Zornitza Stark changed review comment from: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.; to: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.

Also note these two reports of demyelinating peripheral neuropathy: 26872069 pair of sibs with mild ataxia, one with neuropathy; 32179706 five individuals from a consanguineous family presenting in infancy with severe fatal neuropathy. Some functional data. Due to early mortality, uncertain at present whether additional features would have developed.
Mendeliome v0.11537 UBA5 Zornitza Stark edited their review of gene: UBA5: Changed rating: GREEN; Changed publications: 26872069, 27545681, 27545674, 32179706, 26872069; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132, Hypomyelinating neuropathy
Mendeliome v0.11537 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11537 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Mendeliome v0.11537 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Mendeliome v0.11537 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Mendeliome v0.11537 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Mendeliome v0.11537 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mendeliome v0.11537 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300
Mendeliome v0.11536 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11535 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11535 IKBKB Zornitza Stark Marked gene: IKBKB as ready
Mendeliome v0.11535 IKBKB Zornitza Stark Gene: ikbkb has been classified as Green List (High Evidence).
Mendeliome v0.11535 IKBKB Zornitza Stark Phenotypes for gene: IKBKB were changed from to Immunodeficiency 15A, MIM# 618204; Immunodeficiency 15B, MIM# 615592
Mendeliome v0.11534 IKBKB Zornitza Stark Publications for gene: IKBKB were set to
Mendeliome v0.11533 IKBKB Zornitza Stark Mode of inheritance for gene: IKBKB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11532 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24369075, 25216719, 30337470, 10195897, 32117824; Phenotypes: Immunodeficiency 15A, MIM# 618204, Immunodeficiency 15B, MIM# 615592; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11532 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Mendeliome v0.11532 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Mendeliome v0.11532 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Mendeliome v0.11531 IL10RB Zornitza Stark Publications for gene: IL10RB were set to
Mendeliome v0.11530 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11529 IL12B Zornitza Stark Marked gene: IL12B as ready
Mendeliome v0.11529 IL12B Zornitza Stark Gene: il12b has been classified as Green List (High Evidence).
Mendeliome v0.11529 IL12B Zornitza Stark Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890
Mendeliome v0.11528 IL12B Zornitza Stark Publications for gene: IL12B were set to
Mendeliome v0.11527 IL12B Zornitza Stark Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11526 IL12B Zornitza Stark reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 9854038, 11753820, 34389021; Phenotypes: Immunodeficiency 29, mycobacteriosis, MIM# 614890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11526 IL10RB Zornitza Stark reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11526 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Mendeliome v0.11526 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Mendeliome v0.11526 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Mendeliome v0.11525 IL10RA Zornitza Stark Publications for gene: IL10RA were set to
Mendeliome v0.11524 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11523 IL10RA Zornitza Stark reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 22476154; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11523 IL10 Zornitza Stark changed review comment from: At least two families and a mouse model.

Rare variants in this gene are also associated with susceptibility to a range of immune-related complex disorder.; to: At least two families and a mouse model.

Rare variants in this gene are also associated with susceptibility to a range of immune-related complex disorders.
Mendeliome v0.11523 IL10 Zornitza Stark Marked gene: IL10 as ready
Mendeliome v0.11523 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Mendeliome v0.11523 IL10 Zornitza Stark Phenotypes for gene: IL10 were changed from to Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease
Mendeliome v0.11522 IL10 Zornitza Stark Publications for gene: IL10 were set to
Mendeliome v0.11521 IL10 Zornitza Stark Mode of inheritance for gene: IL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11520 IL10 Zornitza Stark reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22236434, 20951137, 19890111; Phenotypes: Diseases of Immune Dysregulation, Early-onset inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11520 IGLL1 Zornitza Stark Marked gene: IGLL1 as ready
Mendeliome v0.11520 IGLL1 Zornitza Stark Gene: igll1 has been classified as Green List (High Evidence).
Mendeliome v0.11520 IGLL1 Zornitza Stark Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500
Mendeliome v0.11519 IGLL1 Zornitza Stark Publications for gene: IGLL1 were set to
Mendeliome v0.11518 IGLL1 Zornitza Stark Mode of inheritance for gene: IGLL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11517 IGLL1 Zornitza Stark reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9419212, 25502423, 27576013; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11517 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Mendeliome v0.11517 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Mendeliome v0.11517 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from to Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Mendeliome v0.11516 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Mendeliome v0.11515 IGHMBP2 Zornitza Stark Mode of inheritance for gene: IGHMBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11514 IGHMBP2 Zornitza Stark reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI, MIM# 604320, Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11514 CCDC134 Zornitza Stark Marked gene: CCDC134 as ready
Mendeliome v0.11514 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
Mendeliome v0.11514 CCDC134 Zornitza Stark Classified gene: CCDC134 as Green List (high evidence)
Mendeliome v0.11514 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
Mendeliome v0.11513 CCDC134 Zornitza Stark gene: CCDC134 was added
gene: CCDC134 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC134 were set to 32181939; 34204301; 35019224
Phenotypes for gene: CCDC134 were set to Osteogenesis imperfecta, type XXII, MIM#619795
Review for gene: CCDC134 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.11512 RACGAP1 Zornitza Stark Marked gene: RACGAP1 as ready
Mendeliome v0.11512 RACGAP1 Zornitza Stark Gene: racgap1 has been classified as Red List (Low Evidence).
Mendeliome v0.11512 RACGAP1 Zornitza Stark gene: RACGAP1 was added
gene: RACGAP1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: RACGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RACGAP1 were set to 34818416
Phenotypes for gene: RACGAP1 were set to Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789
Review for gene: RACGAP1 was set to RED
Added comment: Single affected individual reported.
Sources: Expert Review
Mendeliome v0.11511 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia to Anaemia, congenital dyserythropoietic, type IIIA 105600
Mendeliome v0.11510 KIF23 Zornitza Stark Publications for gene: KIF23 were set to 23570799
Mendeliome v0.11509 KIF23 Zornitza Stark Classified gene: KIF23 as Amber List (moderate evidence)
Mendeliome v0.11509 KIF23 Zornitza Stark Gene: kif23 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11508 KIF23 Zornitza Stark edited their review of gene: KIF23: Added comment: Second individual reported, elongation variant.; Changed rating: AMBER; Changed publications: 23570799, 33159567; Changed phenotypes: Anaemia, congenital dyserythropoietic, type IIIA 105600
Mendeliome v0.11508 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Mendeliome v0.11508 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Mendeliome v0.11508 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891
Mendeliome v0.11507 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Mendeliome v0.11506 IL12RB1 Zornitza Stark Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11505 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330,; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11505 IL13 Zornitza Stark Marked gene: IL13 as ready
Mendeliome v0.11505 IL13 Zornitza Stark Gene: il13 has been classified as Red List (Low Evidence).
Mendeliome v0.11505 IL13 Zornitza Stark Phenotypes for gene: IL13 were changed from to {Allergic rhinitis, susceptibility to} 607154; {Asthma, susceptibility to} 600807
Mendeliome v0.11504 IL13 Zornitza Stark Classified gene: IL13 as Red List (low evidence)
Mendeliome v0.11504 IL13 Zornitza Stark Gene: il13 has been classified as Red List (Low Evidence).
Mendeliome v0.11503 IL13 Zornitza Stark reviewed gene: IL13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Allergic rhinitis, susceptibility to} 607154, {Asthma, susceptibility to} 600807; Mode of inheritance: None
Mendeliome v0.11503 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Mendeliome v0.11503 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Mendeliome v0.11503 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Mendeliome v0.11502 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Mendeliome v0.11501 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11500 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Mendeliome v0.11500 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Mendeliome v0.11500 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mendeliome v0.11499 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Mendeliome v0.11498 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11497 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Mendeliome v0.11497 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence).
Mendeliome v0.11497 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247
Mendeliome v0.11496 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Mendeliome v0.11495 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11494 NDUFA7 Zornitza Stark Marked gene: NDUFA7 as ready
Mendeliome v0.11494 NDUFA7 Zornitza Stark Gene: ndufa7 has been classified as Red List (Low Evidence).
Mendeliome v0.11494 NDUFA7 Zornitza Stark Classified gene: NDUFA7 as Red List (low evidence)
Mendeliome v0.11494 NDUFA7 Zornitza Stark Gene: ndufa7 has been classified as Red List (Low Evidence).
Mendeliome v0.11493 TPTE2P5 Zornitza Stark Marked gene: TPTE2P5 as ready
Mendeliome v0.11493 TPTE2P5 Zornitza Stark Gene: tpte2p5 has been classified as Red List (Low Evidence).
Mendeliome v0.11493 TPTE2P5 Zornitza Stark Classified gene: TPTE2P5 as Red List (low evidence)
Mendeliome v0.11493 TPTE2P5 Zornitza Stark Gene: tpte2p5 has been classified as Red List (Low Evidence).
Mendeliome v0.11492 IL6 Zornitza Stark Marked gene: IL6 as ready
Mendeliome v0.11492 IL6 Zornitza Stark Gene: il6 has been classified as Red List (Low Evidence).
Mendeliome v0.11492 IL6 Zornitza Stark Phenotypes for gene: IL6 were changed from to {Crohn disease-associated growth failure} 266600; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010; {Rheumatoid arthritis, systemic juvenile} 604302; {Kaposi sarcoma, susceptibility to} 148000; {Type 1 diabetes mellitus} 222100; {Type 2 diabetes mellitus} 125853
Mendeliome v0.11491 IL6 Zornitza Stark Classified gene: IL6 as Red List (low evidence)
Mendeliome v0.11491 IL6 Zornitza Stark Gene: il6 has been classified as Red List (Low Evidence).
Mendeliome v0.11490 IL6 Zornitza Stark edited their review of gene: IL6: Changed rating: RED
Mendeliome v0.11490 IL6 Zornitza Stark reviewed gene: IL6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: {Crohn disease-associated growth failure} 266600, {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} 108010, {Rheumatoid arthritis, systemic juvenile} 604302, {Kaposi sarcoma, susceptibility to} 148000, {Type 1 diabetes mellitus} 222100, {Type 2 diabetes mellitus} 125853; Mode of inheritance: None
Mendeliome v0.11490 IL4 Zornitza Stark Marked gene: IL4 as ready
Mendeliome v0.11490 IL4 Zornitza Stark Gene: il4 has been classified as Red List (Low Evidence).
Mendeliome v0.11490 IL4 Zornitza Stark Classified gene: IL4 as Red List (low evidence)
Mendeliome v0.11490 IL4 Zornitza Stark Gene: il4 has been classified as Red List (Low Evidence).
Mendeliome v0.11489 IL4 Zornitza Stark reviewed gene: IL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11489 IL36RN Zornitza Stark Marked gene: IL36RN as ready
Mendeliome v0.11489 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Mendeliome v0.11489 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from to Psoriasis 14, pustular, MIM# 614204
Mendeliome v0.11488 IL36RN Zornitza Stark Publications for gene: IL36RN were set to
Mendeliome v0.11487 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11486 IL36RN Zornitza Stark reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21848462, 21839423, 22903787, 23648549; Phenotypes: Psoriasis 14, pustular, MIM# 614204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11486 IL31RA Zornitza Stark Marked gene: IL31RA as ready
Mendeliome v0.11486 IL31RA Zornitza Stark Gene: il31ra has been classified as Red List (Low Evidence).
Mendeliome v0.11486 IL31RA Zornitza Stark Phenotypes for gene: IL31RA were changed from to Amyloidosis, primary localized cutaneous, 2, MIM# 613955
Mendeliome v0.11485 IL31RA Zornitza Stark Mode of inheritance for gene: IL31RA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11484 IL31RA Zornitza Stark Classified gene: IL31RA as Red List (low evidence)
Mendeliome v0.11484 IL31RA Zornitza Stark Gene: il31ra has been classified as Red List (Low Evidence).
Mendeliome v0.11483 IL31RA Zornitza Stark reviewed gene: IL31RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 2, MIM# 613955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11483 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 16200211, 19384974, 20571988; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11483 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 16218961, 24963768, 34975718; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11483 NDUFA9 Krithika Murali reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26425749, 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11483 NDUFA7 Krithika Murali reviewed gene: NDUFA7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11483 TPTE2P5 Michelle Torres reviewed gene: TPTE2P5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11483 IL2RA Zornitza Stark Marked gene: IL2RA as ready
Mendeliome v0.11483 IL2RA Zornitza Stark Gene: il2ra has been classified as Green List (High Evidence).
Mendeliome v0.11483 IL2RA Zornitza Stark Phenotypes for gene: IL2RA were changed from to Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367
Mendeliome v0.11482 IL2RA Zornitza Stark Publications for gene: IL2RA were set to
Mendeliome v0.11481 IL2RA Zornitza Stark Mode of inheritance for gene: IL2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11480 IL2RA Zornitza Stark reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9096364, 17196245, 23416241, 24116927; Phenotypes: Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11480 IL1RN Zornitza Stark Marked gene: IL1RN as ready
Mendeliome v0.11480 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Mendeliome v0.11480 IL1RN Zornitza Stark Phenotypes for gene: IL1RN were changed from to Interleukin 1 receptor antagonist deficiency, MIM# 612852
Mendeliome v0.11479 IL1RN Zornitza Stark Publications for gene: IL1RN were set to
Mendeliome v0.11478 IL1RN Zornitza Stark Mode of inheritance for gene: IL1RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11477 IL1RN Zornitza Stark reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19494218, 32819369; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11477 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Mendeliome v0.11477 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Mendeliome v0.11477 IREB2 Zornitza Stark Phenotypes for gene: IREB2 were changed from to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Mendeliome v0.11476 IREB2 Zornitza Stark Publications for gene: IREB2 were set to
Mendeliome v0.11475 IREB2 Zornitza Stark Mode of inheritance for gene: IREB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11474 ISG15 Zornitza Stark Marked gene: ISG15 as ready
Mendeliome v0.11474 ISG15 Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence).
Mendeliome v0.11474 ISG15 Zornitza Stark Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126
Mendeliome v0.11473 ISG15 Zornitza Stark Publications for gene: ISG15 were set to
Mendeliome v0.11472 ISG15 Zornitza Stark Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11471 ISG15 Zornitza Stark reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: None; Publications: 25307056, 22859821, 35258551, 32944031; Phenotypes: Immunodeficiency 38, MIM# 616126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11471 ISCU Zornitza Stark Marked gene: ISCU as ready
Mendeliome v0.11471 ISCU Zornitza Stark Gene: iscu has been classified as Green List (High Evidence).
Mendeliome v0.11471 ISCU Zornitza Stark Phenotypes for gene: ISCU were changed from to Myopathy with lactic acidosis, hereditary, MIM# 255125
Mendeliome v0.11470 ISCU Zornitza Stark Publications for gene: ISCU were set to
Mendeliome v0.11469 ISCU Zornitza Stark Mode of inheritance for gene: ISCU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11468 ISCU Zornitza Stark Tag deep intronic tag was added to gene: ISCU.
Tag founder tag was added to gene: ISCU.
Mendeliome v0.11468 ISCU Zornitza Stark reviewed gene: ISCU: Rating: GREEN; Mode of pathogenicity: None; Publications: 29079705, 18304497, 18296749, 19567699; Phenotypes: Myopathy with lactic acidosis, hereditary, MIM# 255125; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11468 IRS1 Zornitza Stark Marked gene: IRS1 as ready
Mendeliome v0.11468 IRS1 Zornitza Stark Gene: irs1 has been classified as Red List (Low Evidence).
Mendeliome v0.11468 IRS1 Zornitza Stark Phenotypes for gene: IRS1 were changed from to {Coronary artery disease, susceptibility to}; {Type 2 diabetes mellitus, susceptibility to}, MIM# 125853
Mendeliome v0.11467 IRS1 Zornitza Stark Classified gene: IRS1 as Red List (low evidence)
Mendeliome v0.11467 IRS1 Zornitza Stark Gene: irs1 has been classified as Red List (Low Evidence).
Mendeliome v0.11466 IRS1 Zornitza Stark reviewed gene: IRS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, susceptibility to}, {Type 2 diabetes mellitus, susceptibility to}, MIM# 125853; Mode of inheritance: None
Mendeliome v0.11466 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Mendeliome v0.11466 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Mendeliome v0.11466 IRF8 Zornitza Stark Phenotypes for gene: IRF8 were changed from to Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Mendeliome v0.11465 IRF8 Zornitza Stark Publications for gene: IRF8 were set to
Mendeliome v0.11464 IRF8 Zornitza Stark Mode of inheritance for gene: IRF8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11463 IRF8 Zornitza Stark reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21524210, 27893462, 29128673, 28162909, 25122610; Phenotypes: Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893, Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11463 IRF5 Zornitza Stark Marked gene: IRF5 as ready
Mendeliome v0.11463 IRF5 Zornitza Stark Gene: irf5 has been classified as Red List (Low Evidence).
Mendeliome v0.11463 IRF5 Zornitza Stark Phenotypes for gene: IRF5 were changed from to {Inflammatory bowel disease 14} 612245; {Systemic lupus erythematosus, susceptibility to, 10} 612251
Mendeliome v0.11462 IRF5 Zornitza Stark Classified gene: IRF5 as Red List (low evidence)
Mendeliome v0.11462 IRF5 Zornitza Stark Gene: irf5 has been classified as Red List (Low Evidence).
Mendeliome v0.11461 IRF5 Zornitza Stark reviewed gene: IRF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Inflammatory bowel disease 14} 612245, {Systemic lupus erythematosus, susceptibility to, 10} 612251; Mode of inheritance: None
Mendeliome v0.11461 IRF1 Zornitza Stark Marked gene: IRF1 as ready
Mendeliome v0.11461 IRF1 Zornitza Stark Gene: irf1 has been classified as Red List (Low Evidence).
Mendeliome v0.11461 IRF1 Zornitza Stark Classified gene: IRF1 as Red List (low evidence)
Mendeliome v0.11461 IRF1 Zornitza Stark Gene: irf1 has been classified as Red List (Low Evidence).
Mendeliome v0.11460 IRF1 Zornitza Stark reviewed gene: IRF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11460 IREB2 Zornitza Stark reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30915432, 31243445, 11175792; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11460 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to 26741492; 21150889
Mendeliome v0.11459 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11459 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Mendeliome v0.11459 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Mendeliome v0.11459 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mendeliome v0.11458 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Mendeliome v0.11457 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11456 NDST1 Zornitza Stark Marked gene: NDST1 as ready
Mendeliome v0.11456 NDST1 Zornitza Stark Gene: ndst1 has been classified as Green List (High Evidence).
Mendeliome v0.11456 NDST1 Zornitza Stark Phenotypes for gene: NDST1 were changed from to Mental retardation, autosomal recessive 46 - MIM#616116
Mendeliome v0.11455 NDST1 Zornitza Stark Publications for gene: NDST1 were set to
Mendeliome v0.11454 NDST1 Zornitza Stark Mode of inheritance for gene: NDST1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11453 NCR3 Zornitza Stark Marked gene: NCR3 as ready
Mendeliome v0.11453 NCR3 Zornitza Stark Gene: ncr3 has been classified as Red List (Low Evidence).
Mendeliome v0.11453 NCR3 Zornitza Stark Classified gene: NCR3 as Red List (low evidence)
Mendeliome v0.11453 NCR3 Zornitza Stark Gene: ncr3 has been classified as Red List (Low Evidence).
Mendeliome v0.11452 NCOA4 Zornitza Stark Marked gene: NCOA4 as ready
Mendeliome v0.11452 NCOA4 Zornitza Stark Gene: ncoa4 has been classified as Red List (Low Evidence).
Mendeliome v0.11452 NCOA4 Zornitza Stark Classified gene: NCOA4 as Red List (low evidence)
Mendeliome v0.11452 NCOA4 Zornitza Stark Gene: ncoa4 has been classified as Red List (Low Evidence).
Mendeliome v0.11451 NCF4 Zornitza Stark Marked gene: NCF4 as ready
Mendeliome v0.11451 NCF4 Zornitza Stark Gene: ncf4 has been classified as Green List (High Evidence).
Mendeliome v0.11451 NCF4 Zornitza Stark Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Mendeliome v0.11450 NCF4 Zornitza Stark Publications for gene: NCF4 were set to
Mendeliome v0.11449 NCF4 Zornitza Stark Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11448 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Mendeliome v0.11448 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Mendeliome v0.11448 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Mendeliome v0.11447 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Mendeliome v0.11446 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11445 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Mendeliome v0.11445 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Mendeliome v0.11445 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323; MONDO:0011812; IVIC syndrome, MIM# 147750; MONDO:0007836
Mendeliome v0.11444 SALL4 Zornitza Stark Publications for gene: SALL4 were set to
Mendeliome v0.11443 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11442 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323, MONDO:0011812, IVIC syndrome, MIM# 147750, MONDO:0007836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11442 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Mendeliome v0.11442 TYROBP Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence).
Mendeliome v0.11442 TYROBP Zornitza Stark Phenotypes for gene: TYROBP were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
Mendeliome v0.11441 TYROBP Zornitza Stark Publications for gene: TYROBP were set to
Mendeliome v0.11440 TYROBP Zornitza Stark Mode of inheritance for gene: TYROBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11439 TYROBP Zornitza Stark reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888890, 12370476, 27904822; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11439 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Mendeliome v0.11439 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Mendeliome v0.11439 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from to Immunodeficiency 67, MIM# 607676
Mendeliome v0.11438 IRAK4 Zornitza Stark Publications for gene: IRAK4 were set to
Mendeliome v0.11437 IRAK4 Zornitza Stark Mode of inheritance for gene: IRAK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11436 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26825884, 17878374, 17544092, 16950813; Phenotypes: Immunodeficiency 67, MIM# 607676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11436 TYK2 Manny Jacobs reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17088085, 17521577, 26304966; Phenotypes: # 611521 IMMUNODEFICIENCY 35; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11436 INSR Zornitza Stark Marked gene: INSR as ready
Mendeliome v0.11436 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Mendeliome v0.11436 INSR Zornitza Stark Phenotypes for gene: INSR were changed from to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Mendeliome v0.11435 INSR Zornitza Stark Publications for gene: INSR were set to
Mendeliome v0.11434 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11433 INSR Zornitza Stark reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968, Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11433 INS Zornitza Stark Marked gene: INS as ready
Mendeliome v0.11433 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Mendeliome v0.11433 INS Zornitza Stark Phenotypes for gene: INS were changed from to Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370
Mendeliome v0.11432 INS Zornitza Stark Publications for gene: INS were set to
Mendeliome v0.11431 INS Zornitza Stark Mode of inheritance for gene: INS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11430 INS Zornitza Stark reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18162506; Phenotypes: Diabetes mellitus, insulin-dependent, 2, MIM# 125852, Diabetes mellitus, permanent neonatal 4, MIM# 618858, Maturity-onset diabetes of the young, type 10, MIM# 613370; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11430 INO80 Zornitza Stark Marked gene: INO80 as ready
Mendeliome v0.11430 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11430 INO80 Zornitza Stark Phenotypes for gene: INO80 were changed from to Primary immunodeficiency, MONDO:0003778
Mendeliome v0.11429 INO80 Zornitza Stark Publications for gene: INO80 were set to
Mendeliome v0.11428 INO80 Zornitza Stark Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11427 INO80 Zornitza Stark Classified gene: INO80 as Amber List (moderate evidence)
Mendeliome v0.11427 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11426 TYMP Manny Jacobs reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21933806; Phenotypes: # 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11426 INO80 Zornitza Stark reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: None; Publications: 25312759; Phenotypes: Primary immunodeficiency, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11426 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Mendeliome v0.11426 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Mendeliome v0.11426 IMPAD1 Zornitza Stark Phenotypes for gene: IMPAD1 were changed from to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078
Mendeliome v0.11425 IMPAD1 Zornitza Stark Publications for gene: IMPAD1 were set to
Mendeliome v0.11424 IMPAD1 Zornitza Stark Mode of inheritance for gene: IMPAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11423 IMPAD1 Zornitza Stark Deleted their review
Mendeliome v0.11423 IMPAD1 Zornitza Stark reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11423 ILF2 Zornitza Stark changed review comment from: Cannot find evidence for association with Mendelian disease.; to: Limited data to support association with autism: two variants in a large ASD cohort and other supportive evidence. Assessed as 'strong candidate' by SFARI.
Mendeliome v0.11423 ILF2 Zornitza Stark edited their review of gene: ILF2: Changed publications: 26402605; Changed phenotypes: Autism
Mendeliome v0.11423 ILF2 Zornitza Stark Marked gene: ILF2 as ready
Mendeliome v0.11423 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Mendeliome v0.11423 TYR Manny Jacobs reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17980020; Phenotypes: Albinism, oculocutaneous, type IA, OMIM 203100, Albinism, oculocutaneous, type IB, OMIM 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11423 SALL4 Samantha Ayres reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: 20301547; Phenotypes: Duane-radial ray syndrome, MIM# 607323, MONDO:0011812, IVIC syndrome, MIM# 147750, MONDO:0007836; Mode of inheritance: None
Mendeliome v0.11423 TYROBP Manny Jacobs reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27904822; Phenotypes: # 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11423 ILF2 Zornitza Stark Classified gene: ILF2 as Red List (low evidence)
Mendeliome v0.11423 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Mendeliome v0.11422 ILF2 Zornitza Stark reviewed gene: ILF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11422 NDUFA10 Krithika Murali reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11422 NDST1 Krithika Murali reviewed gene: NDST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25125150, 21937992, 32878022, 28211985; Phenotypes: Mental retardation, autosomal recessive 46 - MIM#616116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11422 TYRP1 Manny Jacobs reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.11422 NCR3 Krithika Murali reviewed gene: NCR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11422 NCOA4 Krithika Murali reviewed gene: NCOA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11422 NCF4 Krithika Murali reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11422 NCF2 Krithika Murali reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11422 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Mendeliome v0.11422 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Mendeliome v0.11422 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Mendeliome v0.11421 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Mendeliome v0.11420 IFNGR2 Zornitza Stark Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11419 IFNGR2 Zornitza Stark reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15924140, 18625743, 31222290; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM# 614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11419 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Mendeliome v0.11419 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Mendeliome v0.11419 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Mendeliome v0.11418 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Mendeliome v0.11417 IFNGR1 Zornitza Stark Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11416 IFNGR1 Zornitza Stark reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7815885, 8960475, 9389728, 10811850, 10192386, 12244188, 15589309; Phenotypes: Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950, Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11416 IFITM3 Zornitza Stark Marked gene: IFITM3 as ready
Mendeliome v0.11416 IFITM3 Zornitza Stark Gene: ifitm3 has been classified as Red List (Low Evidence).
Mendeliome v0.11416 IFITM3 Zornitza Stark Phenotypes for gene: IFITM3 were changed from to {Influenza, severe, susceptibility to} 614680
Mendeliome v0.11415 IFITM3 Zornitza Stark Classified gene: IFITM3 as Red List (low evidence)
Mendeliome v0.11415 IFITM3 Zornitza Stark Gene: ifitm3 has been classified as Red List (Low Evidence).
Mendeliome v0.11414 IFITM3 Zornitza Stark reviewed gene: IFITM3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Influenza, severe, susceptibility to} 614680; Mode of inheritance: None
Mendeliome v0.11414 IDH3B Zornitza Stark Marked gene: IDH3B as ready
Mendeliome v0.11414 IDH3B Zornitza Stark Gene: idh3b has been classified as Green List (High Evidence).
Mendeliome v0.11414 IDH3B Zornitza Stark Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572
Mendeliome v0.11413 IDH3B Zornitza Stark Publications for gene: IDH3B were set to
Mendeliome v0.11412 IDH3B Zornitza Stark Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11411 IDH3B Zornitza Stark reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11411 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Mendeliome v0.11411 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Mendeliome v0.11411 IDH2 Zornitza Stark Phenotypes for gene: IDH2 were changed from to D-2-hydroxyglutaric aciduria 2, MIM# 613657
Mendeliome v0.11410 IDH2 Zornitza Stark Publications for gene: IDH2 were set to
Mendeliome v0.11409 IDH2 Zornitza Stark Mode of inheritance for gene: IDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11408 IDH2 Zornitza Stark reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 27142242, 20847235, 24049096; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM# 613657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11408 ICOS Zornitza Stark Marked gene: ICOS as ready
Mendeliome v0.11408 ICOS Zornitza Stark Gene: icos has been classified as Green List (High Evidence).
Mendeliome v0.11408 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Immunodeficiency, common variable, 1 MIM# 607594
Mendeliome v0.11407 ICOS Zornitza Stark Publications for gene: ICOS were set to
Mendeliome v0.11406 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11405 ICOS Zornitza Stark reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056, 15507387, 19380800, 28861081, 31858365, 11343122, 16982935; Phenotypes: Immunodeficiency, common variable, 1 MIM# 607594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11405 ICAM4 Zornitza Stark Marked gene: ICAM4 as ready
Mendeliome v0.11405 ICAM4 Zornitza Stark Gene: icam4 has been classified as Red List (Low Evidence).
Mendeliome v0.11405 ICAM4 Zornitza Stark Phenotypes for gene: ICAM4 were changed from to [Blood group, Landsteiner-Wiener] 111250
Mendeliome v0.11404 ICAM4 Zornitza Stark Classified gene: ICAM4 as Red List (low evidence)
Mendeliome v0.11404 ICAM4 Zornitza Stark Gene: icam4 has been classified as Red List (Low Evidence).
Mendeliome v0.11403 ICAM4 Zornitza Stark reviewed gene: ICAM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Landsteiner-Wiener] 111250; Mode of inheritance: None
Mendeliome v0.11403 ACACA Zornitza Stark Marked gene: ACACA as ready
Mendeliome v0.11403 ACACA Zornitza Stark Gene: acaca has been classified as Red List (Low Evidence).
Mendeliome v0.11403 ACACA Zornitza Stark Phenotypes for gene: ACACA were changed from to Acetyl-CoA carboxylase deficiency MIM#613933
Mendeliome v0.11402 ACACA Zornitza Stark Publications for gene: ACACA were set to
Mendeliome v0.11401 ACACA Zornitza Stark Mode of inheritance for gene: ACACA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11400 ACACA Zornitza Stark Classified gene: ACACA as Red List (low evidence)
Mendeliome v0.11400 ACACA Zornitza Stark Gene: acaca has been classified as Red List (Low Evidence).
Mendeliome v0.11399 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Mendeliome v0.11399 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Mendeliome v0.11399 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Mendeliome v0.11399 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Mendeliome v0.11399 ABCG8 Zornitza Stark Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, MIM#210250
Mendeliome v0.11398 ABCG8 Zornitza Stark Publications for gene: ABCG8 were set to
Mendeliome v0.11397 ABCG8 Zornitza Stark Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11396 C1QTNF5 Zornitza Stark Publications for gene: C1QTNF5 were set to
Mendeliome v0.11395 C1GALT1C1 Zornitza Stark Publications for gene: C1GALT1C1 were set to
Mendeliome v0.11394 ACACA Elena Savva reviewed gene: ACACA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34552920, 10677481, 16717184; Phenotypes: Acetyl-CoA carboxylase deficiency MIM#613933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11394 ACAD8 Elena Savva Marked gene: ACAD8 as ready
Mendeliome v0.11394 ACAD8 Elena Savva Gene: acad8 has been classified as Green List (High Evidence).
Mendeliome v0.11394 ACAD8 Elena Savva Publications for gene: ACAD8 were set to
Mendeliome v0.11394 C2 Ain Roesley Phenotypes for gene: C2 were changed from C2 deficiency MIM#217000 to C2 deficiency MIM#217000
Mendeliome v0.11394 C2 Ain Roesley Publications for gene: C2 were set to 16026838; 8621452; 35272074; 32385807
Mendeliome v0.11393 ACAD8 Elena Savva Mode of inheritance for gene: ACAD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11392 ACAD8 Elena Savva reviewed gene: ACAD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34544473; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11392 C2 Ain Roesley Phenotypes for gene: C2 were changed from to C2 deficiency MIM#217000
Mendeliome v0.11391 C2 Ain Roesley Publications for gene: C2 were set to
Mendeliome v0.11391 C2 Ain Roesley Marked gene: C2 as ready
Mendeliome v0.11391 C2 Ain Roesley Gene: c2 has been classified as Green List (High Evidence).
Mendeliome v0.11391 C2 Ain Roesley Mode of inheritance for gene: C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11390 C2 Ain Roesley edited their review of gene: C2: Changed rating: GREEN
Mendeliome v0.11390 ABL1 Elena Savva Phenotypes for gene: ABL1 were changed from to Congenital heart defects and skeletal malformations syndrome MIM#617602
Mendeliome v0.11389 ABL1 Elena Savva Mode of pathogenicity for gene: ABL1 was changed from to Other
Mendeliome v0.11389 ABL1 Elena Savva Publications for gene: ABL1 were set to
Mendeliome v0.11389 ABL1 Elena Savva Mode of inheritance for gene: ABL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11388 ABL1 Elena Savva reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28288113, 30855488, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome MIM#617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11388 ABCG8 Elena Savva reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 1 MIM#210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11388 C2 Ain Roesley reviewed gene: C2: Rating: ; Mode of pathogenicity: None; Publications: 16026838, 8621452, 35272074, 32385807; Phenotypes: C2 deficiency MIM#217000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11388 C1S Ain Roesley Phenotypes for gene: C1S were changed from to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174; C1s deficiency MIM#613783
Mendeliome v0.11387 C1S Ain Roesley Publications for gene: C1S were set to
Mendeliome v0.11387 C1S Ain Roesley Marked gene: C1S as ready
Mendeliome v0.11387 C1S Ain Roesley Gene: c1s has been classified as Green List (High Evidence).
Mendeliome v0.11387 C1S Ain Roesley Mode of inheritance for gene: C1S was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11386 C1S Ain Roesley reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 30071989, 27745832, 31921203, 19155518, 20191570, 18062908, 11390518, 9856483; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174, C1s deficiency MIM#613783; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11386 ABCC8 Elena Savva Marked gene: ABCC8 as ready
Mendeliome v0.11386 ABCC8 Elena Savva Gene: abcc8 has been classified as Green List (High Evidence).
Mendeliome v0.11386 ABCC8 Elena Savva Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800
Mendeliome v0.11385 ABCC8 Elena Savva Publications for gene: ABCC8 were set to
Mendeliome v0.11385 ABCC8 Elena Savva Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11384 ABCC8 Elena Savva reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21054355, 32027066, 32376986; Phenotypes: Diabetes mellitus, noninsulin-dependent MIM#125853, Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Diabetes mellitus, transient neonatal 2 MIM#610374, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450, Hypoglycemia of infancy, leucine-sensitive MIM#240800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11384 C1R Ain Roesley Marked gene: C1R as ready
Mendeliome v0.11384 C1R Ain Roesley Gene: c1r has been classified as Green List (High Evidence).
Mendeliome v0.11384 C1R Ain Roesley Phenotypes for gene: C1R were changed from to Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080 Current Edit
Mendeliome v0.11383 C1R Ain Roesley Publications for gene: C1R were set to
Mendeliome v0.11383 C1R Ain Roesley Mode of inheritance for gene: C1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11382 ITCH Zornitza Stark Marked gene: ITCH as ready
Mendeliome v0.11382 ITCH Zornitza Stark Gene: itch has been classified as Green List (High Evidence).
Mendeliome v0.11382 C1R Ain Roesley reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745832, 28306229; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11382 ITCH Zornitza Stark Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Mendeliome v0.11381 ITCH Zornitza Stark Publications for gene: ITCH were set to
Mendeliome v0.11380 C1QTNF5 Ain Roesley Phenotypes for gene: C1QTNF5 were changed from to Retinal degeneration, late-onset, autosomal dominant MIM#605670
Mendeliome v0.11379 C1QTNF5 Ain Roesley Marked gene: C1QTNF5 as ready
Mendeliome v0.11380 C1QTNF5 Ain Roesley Publications for gene: C1QTNF5 were set to
Mendeliome v0.11379 C1QTNF5 Ain Roesley Gene: c1qtnf5 has been classified as Green List (High Evidence).
Mendeliome v0.11379 ITCH Zornitza Stark Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11378 ITCH Zornitza Stark Tag founder tag was added to gene: ITCH.
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.11378 C1QTNF5 Ain Roesley Mode of inheritance for gene: C1QTNF5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11377 ITCH Zornitza Stark reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11377 C1QTNF5 Ain Roesley reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11377 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Mendeliome v0.11377 ITGA7 Zornitza Stark Gene: itga7 has been classified as Green List (High Evidence).
Mendeliome v0.11377 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Mendeliome v0.11376 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Mendeliome v0.11375 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11374 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11374 C1QC Ain Roesley Phenotypes for gene: C1QC were changed from to C1q deficiency MIM#613652
Mendeliome v0.11373 C1QC Ain Roesley Publications for gene: C1QC were set to
Mendeliome v0.11373 C1QC Ain Roesley Marked gene: C1QC as ready
Mendeliome v0.11373 C1QC Ain Roesley Gene: c1qc has been classified as Green List (High Evidence).
Mendeliome v0.11373 C1QC Ain Roesley Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11372 ITPA Zornitza Stark Marked gene: ITPA as ready
Mendeliome v0.11372 ITPA Zornitza Stark Gene: itpa has been classified as Green List (High Evidence).
Mendeliome v0.11372 C1QC Ain Roesley reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 24157463; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11372 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647
Mendeliome v0.11371 ITPA Zornitza Stark Publications for gene: ITPA were set to
Mendeliome v0.11370 ITPA Zornitza Stark reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26224535, 19498443, 35234647, 35098521; Phenotypes: Developmental and epileptic encephalopathy 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11370 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11369 IVD Zornitza Stark Marked gene: IVD as ready
Mendeliome v0.11369 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Mendeliome v0.11369 IVD Zornitza Stark Phenotypes for gene: IVD were changed from to Isovaleric acidaemia, MIM# 243500
Mendeliome v0.11368 IVD Zornitza Stark Publications for gene: IVD were set to
Mendeliome v0.11367 IVD Zornitza Stark Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11366 IVD Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11366 C1QB Ain Roesley Publications for gene: C1QB were set to
Mendeliome v0.11366 C1QB Ain Roesley Phenotypes for gene: C1QB were changed from to C1q deficiency, MIM# 613652
Mendeliome v0.11366 C1QB Ain Roesley Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11365 C1QB Ain Roesley Marked gene: C1QB as ready
Mendeliome v0.11365 C1QB Ain Roesley Gene: c1qb has been classified as Green List (High Evidence).
Mendeliome v0.11365 C1QB Ain Roesley reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11365 IYD Zornitza Stark Marked gene: IYD as ready
Mendeliome v0.11365 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Mendeliome v0.11365 IYD Zornitza Stark Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM# 274800
Mendeliome v0.11364 C12orf57 Ain Roesley Marked gene: C12orf57 as ready
Mendeliome v0.11364 C12orf57 Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence).
Mendeliome v0.11364 C12orf4 Ain Roesley Marked gene: C12orf4 as ready
Mendeliome v0.11364 C12orf4 Ain Roesley Gene: c12orf4 has been classified as Green List (High Evidence).
Mendeliome v0.11364 IYD Zornitza Stark Publications for gene: IYD were set to
Mendeliome v0.11363 IYD Zornitza Stark Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11362 C1GALT1C1 Ain Roesley Marked gene: C1GALT1C1 as ready
Mendeliome v0.11362 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Mendeliome v0.11362 IYD Zornitza Stark changed review comment from: Four unrelated families reported.; to: Four unrelated families reported in 2008, limited reports since.
Mendeliome v0.11362 IYD Zornitza Stark reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18434651, 18434651; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11362 C1GALT1C1 Ain Roesley Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622
Mendeliome v0.11361 C1GALT1C1 Ain Roesley Mode of inheritance for gene: C1GALT1C1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11360 C1GALT1C1 Ain Roesley reviewed gene: C1GALT1C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18537974, 16251947; Phenotypes: Tn polyagglutination syndrome, somatic MIM#300622; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11360 C12orf57 Ain Roesley Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Mendeliome v0.11359 C12orf57 Ain Roesley Publications for gene: C12orf57 were set to
Mendeliome v0.11359 C12orf57 Ain Roesley Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11358 C12orf57 Ain Roesley reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11358 C12orf4 Ain Roesley Phenotypes for gene: C12orf4 were changed from to Intellectual developmental disorder, autosomal recessive 66 MIM#618221
Mendeliome v0.11357 C12orf4 Ain Roesley Publications for gene: C12orf4 were set to
Mendeliome v0.11356 C12orf4 Ain Roesley Mode of pathogenicity for gene: C12orf4 was changed from to None
Mendeliome v0.11355 C12orf4 Ain Roesley Mode of inheritance for gene: C12orf4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11354 C12orf4 Ain Roesley reviewed gene: C12orf4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34967075, 31334606, 27311568, 25558065, 28097321; Phenotypes: Intellectual developmental disorder, autosomal recessive 66 MIM#618221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11354 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Mendeliome v0.11354 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Mendeliome v0.11354 IARS2 Zornitza Stark Phenotypes for gene: IARS2 were changed from to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Mendeliome v0.11353 IARS2 Zornitza Stark Publications for gene: IARS2 were set to
Mendeliome v0.11352 IARS2 Zornitza Stark Mode of inheritance for gene: IARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11351 IARS2 Zornitza Stark reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28328135, 30419932, 25130867, 30041933; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11351 KAAG1 Zornitza Stark Marked gene: KAAG1 as ready
Mendeliome v0.11351 KAAG1 Zornitza Stark Gene: kaag1 has been classified as Red List (Low Evidence).
Mendeliome v0.11351 KAAG1 Zornitza Stark Classified gene: KAAG1 as Red List (low evidence)
Mendeliome v0.11351 KAAG1 Zornitza Stark Gene: kaag1 has been classified as Red List (Low Evidence).
Mendeliome v0.11350 KAAG1 Zornitza Stark reviewed gene: KAAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11350 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Mendeliome v0.11350 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11350 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Oligo-astheno-teratozoospermia; Autism
Mendeliome v0.11349 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Mendeliome v0.11348 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11347 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Amber List (moderate evidence)
Mendeliome v0.11347 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11346 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34096614, 22495311, 21572417, 22495309, 22495306; Phenotypes: Oligo-astheno-teratozoospermia, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11346 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Mendeliome v0.11346 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Mendeliome v0.11346 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120; Epilepsy, MONDO:0005027, KCNA1-related
Mendeliome v0.11345 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Mendeliome v0.11344 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to None
Mendeliome v0.11343 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11342 KCNA1 Zornitza Stark reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32316562; Phenotypes: Epilepsy, MONDO:0005027, KCNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11342 KCNA5 Zornitza Stark Marked gene: KCNA5 as ready
Mendeliome v0.11342 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Green List (High Evidence).
Mendeliome v0.11342 KCNA5 Zornitza Stark Phenotypes for gene: KCNA5 were changed from to Atrial fibrillation, familial, 7, MIM# 612240
Mendeliome v0.11341 KCNA5 Zornitza Stark Publications for gene: KCNA5 were set to
Mendeliome v0.11340 KCNA5 Zornitza Stark Mode of inheritance for gene: KCNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11339 KCNA5 Zornitza Stark edited their review of gene: KCNA5: Changed rating: GREEN
Mendeliome v0.11339 KCNA5 Zornitza Stark reviewed gene: KCNA5: Rating: ; Mode of pathogenicity: None; Publications: 16772329, 19343045, 23264583; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11339 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Mendeliome v0.11339 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Mendeliome v0.11339 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from Spinocerebellar ataxia 19, MIM# 607346 to Spinocerebellar ataxia 19, MIM# 607346
Mendeliome v0.11338 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM# 607346
Mendeliome v0.11337 KCND3 Zornitza Stark Publications for gene: KCND3 were set to
Mendeliome v0.11336 KCND3 Zornitza Stark Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11335 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23280837, 23280838, 34361012, 34067185, 33575485, 32823520; Phenotypes: Spinocerebellar ataxia 19, MIM# 607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11335 KCNE5 Zornitza Stark Marked gene: KCNE5 as ready
Mendeliome v0.11335 KCNE5 Zornitza Stark Gene: kcne5 has been classified as Red List (Low Evidence).
Mendeliome v0.11335 KCNE5 Zornitza Stark Phenotypes for gene: KCNE5 were changed from to Atrial fibrillation
Mendeliome v0.11334 KCNE5 Zornitza Stark Publications for gene: KCNE5 were set to
Mendeliome v0.11333 KCNE5 Zornitza Stark Mode of inheritance for gene: KCNE5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11332 KCNE5 Zornitza Stark Classified gene: KCNE5 as Red List (low evidence)
Mendeliome v0.11332 KCNE5 Zornitza Stark Gene: kcne5 has been classified as Red List (Low Evidence).
Mendeliome v0.11331 KCNE5 Zornitza Stark changed review comment from: Associated with Brugada is DISPUTED.

Rare variants in KCNE5 reported in AF cohorts with some supportive functional data.; to: Association with Brugada is DISPUTED.

Rare variants in KCNE5 reported in AF cohorts with some supportive functional data.
Mendeliome v0.11331 KCNE5 Zornitza Stark reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: None; Publications: 18313602, 16054468, 30289750; Phenotypes: Atrial fibrillation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11331 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Mendeliome v0.11331 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Mendeliome v0.11331 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Mendeliome v0.11330 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Mendeliome v0.11329 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11328 KCNJ10 Zornitza Stark reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414; Phenotypes: SESAME syndrome, MIM# 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11328 KCNK18 Zornitza Stark Marked gene: KCNK18 as ready
Mendeliome v0.11328 KCNK18 Zornitza Stark Gene: kcnk18 has been classified as Green List (High Evidence).
Mendeliome v0.11328 KCNK18 Zornitza Stark Phenotypes for gene: KCNK18 were changed from to {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656
Mendeliome v0.11327 KCNK18 Zornitza Stark Publications for gene: KCNK18 were set to
Mendeliome v0.11326 KCNK18 Zornitza Stark Mode of inheritance for gene: KCNK18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11325 KCNK18 Zornitza Stark reviewed gene: KCNK18: Rating: GREEN; Mode of pathogenicity: None; Publications: 20871611, 32394190, 30573346, 23904616, 22355750; Phenotypes: {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11325 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Mendeliome v0.11325 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Mendeliome v0.11325 KCNK3 Zornitza Stark Publications for gene: KCNK3 were set to
Mendeliome v0.11324 KCNK3 Zornitza Stark Phenotypes for gene: KCNK3 were changed from Pulmonary hypertension, primary, 4 MIM#615344 to Pulmonary hypertension, primary, 4 MIM#615344; Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Mendeliome v0.11323 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Mendeliome v0.11323 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Mendeliome v0.11323 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729
Mendeliome v0.11322 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Mendeliome v0.11321 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11320 KCNMA1 Zornitza Stark changed review comment from: Multiple individuals with KCNMA1-related channelopathy described, both mono allelic and bi-allelic disease reported; a variety of neurologic symptoms, including ID; some variants are LoF and some are gain of function, some correlation between mechanism of pathogenicity and phenotype.; to: Multiple individuals with KCNMA1-related channelopathy described, both mono allelic and bi-allelic disease reported; a variety of neurologic symptoms, including ID; some variants are LoF and some are gain of function, some correlation between mechanism of pathogenicity and phenotype.

Liang-Wang syndrome is a polymalformation syndrome with neurological involvement.
Mendeliome v0.11320 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193, 27567911, 29545233, 31427379, 31152168; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446, Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Liang-Wang syndrome, MIM# 618729; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11320 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Mendeliome v0.11320 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Mendeliome v0.11320 KCNMB1 Zornitza Stark Marked gene: KCNMB1 as ready
Mendeliome v0.11320 KCNMB1 Zornitza Stark Gene: kcnmb1 has been classified as Red List (Low Evidence).
Mendeliome v0.11320 KCNMB1 Zornitza Stark Phenotypes for gene: KCNMB1 were changed from to {Hypertension, diastolic, resistance to} 608622
Mendeliome v0.11319 KCNMB1 Zornitza Stark Classified gene: KCNMB1 as Red List (low evidence)
Mendeliome v0.11319 KCNMB1 Zornitza Stark Gene: kcnmb1 has been classified as Red List (Low Evidence).
Mendeliome v0.11318 KCNMB1 Zornitza Stark reviewed gene: KCNMB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hypertension, diastolic, resistance to} 608622; Mode of inheritance: None
Mendeliome v0.11318 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Mendeliome v0.11318 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Mendeliome v0.11318 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from to N-acetylaspartate deficiency - MIM#614063
Mendeliome v0.11317 NAT8L Zornitza Stark Publications for gene: NAT8L were set to
Mendeliome v0.11316 NAT8L Zornitza Stark Mode of inheritance for gene: NAT8L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11315 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Mendeliome v0.11315 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Mendeliome v0.11314 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Mendeliome v0.11314 NAT2 Zornitza Stark Marked gene: NAT2 as ready
Mendeliome v0.11314 NAT2 Zornitza Stark Gene: nat2 has been classified as Red List (Low Evidence).
Mendeliome v0.11314 NAT2 Zornitza Stark Phenotypes for gene: NAT2 were changed from to [Acetylation, slow] - MIM#243400
Mendeliome v0.11313 NAT2 Zornitza Stark Publications for gene: NAT2 were set to
Mendeliome v0.11312 NAT2 Zornitza Stark Mode of inheritance for gene: NAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11311 NAT2 Zornitza Stark Classified gene: NAT2 as Red List (low evidence)
Mendeliome v0.11311 NAT2 Zornitza Stark Gene: nat2 has been classified as Red List (Low Evidence).
Mendeliome v0.11310 EDA Bryony Thompson Marked gene: EDA as ready
Mendeliome v0.11310 EDA Bryony Thompson Gene: eda has been classified as Green List (High Evidence).
Mendeliome v0.11310 EDA Bryony Thompson Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Mendeliome v0.11309 EDA Bryony Thompson Publications for gene: EDA were set to
Mendeliome v0.11308 EDA Bryony Thompson Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11307 EDA Bryony Thompson reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11307 ECHS1 Bryony Thompson Phenotypes for gene: ECHS1 were changed from to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058
Mendeliome v0.11306 ECHS1 Bryony Thompson Publications for gene: ECHS1 were set to
Mendeliome v0.11305 ECHS1 Bryony Thompson Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11304 ECHS1 Bryony Thompson reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 32858208, 31399326, 25125611, 25393721, 32677093; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, Leigh syndrome MONDO:0009723, cerebral palsy MONDO:0006497, paroxysmal dystonia MONDO:0016058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11304 ARHGAP35 Ain Roesley Phenotypes for gene: ARHGAP35 were changed from Developmental disorder to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
Mendeliome v0.11303 ARHGAP35 Ain Roesley Classified gene: ARHGAP35 as Green List (high evidence)
Mendeliome v0.11303 ARHGAP35 Ain Roesley Gene: arhgap35 has been classified as Green List (High Evidence).
Mendeliome v0.11302 ARHGAP35 Ain Roesley Classified gene: ARHGAP35 as Green List (high evidence)
Mendeliome v0.11302 ARHGAP35 Ain Roesley Gene: arhgap35 has been classified as Green List (High Evidence).
Mendeliome v0.11301 ARHGAP35 Ain Roesley reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, ARHGAP35-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11301 KCNV2 Zornitza Stark Marked gene: KCNV2 as ready
Mendeliome v0.11301 KCNV2 Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence).
Mendeliome v0.11301 KCNV2 Zornitza Stark Phenotypes for gene: KCNV2 were changed from to Retinal cone dystrophy 3B, MIM# 610356
Mendeliome v0.11300 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to
Mendeliome v0.11299 KCNV2 Zornitza Stark Mode of inheritance for gene: KCNV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11298 KCNV2 Zornitza Stark reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291; Phenotypes: Retinal cone dystrophy 3B, MIM# 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11298 KHDC3L Zornitza Stark Marked gene: KHDC3L as ready
Mendeliome v0.11298 KHDC3L Zornitza Stark Gene: khdc3l has been classified as Green List (High Evidence).
Mendeliome v0.11298 KHDC3L Zornitza Stark Phenotypes for gene: KHDC3L were changed from to Hydatiform mold recurrent 2, MIM#614293
Mendeliome v0.11297 KHDC3L Zornitza Stark Publications for gene: KHDC3L were set to
Mendeliome v0.11296 KHDC3L Zornitza Stark Mode of inheritance for gene: KHDC3L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11295 KHDC3L Zornitza Stark reviewed gene: KHDC3L: Rating: GREEN; Mode of pathogenicity: None; Publications: 23232697, 31847873, 23125094, 21885028; Phenotypes: Hydatiform mold recurrent 2 MIM#614293; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11295 KIAA1109 Zornitza Stark changed review comment from: ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.; to: ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.

More than 10 families reported.
Mendeliome v0.11295 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Mendeliome v0.11295 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Mendeliome v0.11295 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Mendeliome v0.11294 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Mendeliome v0.11293 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11292 KIAA1109 Zornitza Stark reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11292 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Mendeliome v0.11292 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Mendeliome v0.11292 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357
Mendeliome v0.11291 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Mendeliome v0.11290 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11289 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213, NESCAV syndrome, MIM# 614255, Spastic paraplegia 30, MIM# 610357; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11289 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mendeliome v0.11289 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Mendeliome v0.11289 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from to Neuropathy; Spastic paraplegia 10, autosomal dominant, MIM# 604187; Myoclonus, intractable, neonatal, MIM# 617235
Mendeliome v0.11288 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Mendeliome v0.11287 KIF5A Zornitza Stark Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11286 KIF5A Zornitza Stark edited their review of gene: KIF5A: Added comment: Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. At least 3 unrelated individuals with de novo LoF variants.

SPG10/CMT: variants are generally in the motor domain.; Changed publications: 30057544, 29892902, 28902413, 26403765, 25695920, 25008398, 27463701, 27414745; Changed phenotypes: Neuropathy, Spastic paraplegia 10, autosomal dominant, MIM# 604187, Myoclonus, intractable, neonatal, MIM# 617235
Mendeliome v0.11286 KIT Zornitza Stark Marked gene: KIT as ready
Mendeliome v0.11286 KIT Zornitza Stark Gene: kit has been classified as Green List (High Evidence).
Mendeliome v0.11286 KIT Zornitza Stark Phenotypes for gene: KIT were changed from to Piebaldism, MIM# 172800; Gastrointestinal stromal tumor, familial, MIM# 606764; Mastocytosis, cutaneous, MIM# 154800
Mendeliome v0.11285 KIT Zornitza Stark Mode of inheritance for gene: KIT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11284 KIT Zornitza Stark reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800, Gastrointestinal stromal tumor, familial, MIM# 606764, Mastocytosis, cutaneous, MIM# 154800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11284 KIZ Zornitza Stark Marked gene: KIZ as ready
Mendeliome v0.11284 KIZ Zornitza Stark Gene: kiz has been classified as Green List (High Evidence).
Mendeliome v0.11284 KIZ Zornitza Stark Phenotypes for gene: KIZ were changed from to Retinitis pigmentosa 69, MIM# 615780
Mendeliome v0.11283 KIZ Zornitza Stark Publications for gene: KIZ were set to
Mendeliome v0.11282 KIZ Zornitza Stark Mode of inheritance for gene: KIZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11281 KIZ Zornitza Stark reviewed gene: KIZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 24680887, 31556760, 29057815; Phenotypes: Retinitis pigmentosa 69, MIM# 615780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11281 KLF11 Zornitza Stark Marked gene: KLF11 as ready
Mendeliome v0.11281 KLF11 Zornitza Stark Gene: klf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11281 KLF11 Zornitza Stark Phenotypes for gene: KLF11 were changed from to Maturity-onset diabetes of the young, type VII MIM#610508
Mendeliome v0.11280 KLF11 Zornitza Stark Publications for gene: KLF11 were set to
Mendeliome v0.11279 KLF11 Zornitza Stark Mode of inheritance for gene: KLF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11278 KLF11 Zornitza Stark Classified gene: KLF11 as Amber List (moderate evidence)
Mendeliome v0.11278 KLF11 Zornitza Stark Gene: klf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11277 KLF6 Zornitza Stark Marked gene: KLF6 as ready
Mendeliome v0.11277 KLF6 Zornitza Stark Gene: klf6 has been classified as Red List (Low Evidence).
Mendeliome v0.11277 KLF6 Zornitza Stark Classified gene: KLF6 as Red List (low evidence)
Mendeliome v0.11277 KLF6 Zornitza Stark Gene: klf6 has been classified as Red List (Low Evidence).
Mendeliome v0.11276 KLF6 Zornitza Stark reviewed gene: KLF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11276 KLHDC8B Zornitza Stark Marked gene: KLHDC8B as ready
Mendeliome v0.11276 KLHDC8B Zornitza Stark Gene: klhdc8b has been classified as Red List (Low Evidence).
Mendeliome v0.11276 KLHDC8B Zornitza Stark Phenotypes for gene: KLHDC8B were changed from to {Hodgkin lymphoma, susceptibility to} 236000
Mendeliome v0.11275 KLHDC8B Zornitza Stark Classified gene: KLHDC8B as Red List (low evidence)
Mendeliome v0.11275 KLHDC8B Zornitza Stark Gene: klhdc8b has been classified as Red List (Low Evidence).
Mendeliome v0.11274 KLHDC8B Zornitza Stark reviewed gene: KLHDC8B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hodgkin lymphoma, susceptibility to} 236000; Mode of inheritance: None
Mendeliome v0.11274 KLHL10 Zornitza Stark Marked gene: KLHL10 as ready
Mendeliome v0.11274 KLHL10 Zornitza Stark Gene: klhl10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11274 KLHL10 Zornitza Stark Phenotypes for gene: KLHL10 were changed from to Spermatogenic failure 11, MIM# 615081
Mendeliome v0.11273 KLHL10 Zornitza Stark Publications for gene: KLHL10 were set to
Mendeliome v0.11272 KLHL10 Zornitza Stark Mode of inheritance for gene: KLHL10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11271 KLHL10 Zornitza Stark Classified gene: KLHL10 as Amber List (moderate evidence)
Mendeliome v0.11271 KLHL10 Zornitza Stark Gene: klhl10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11270 KLHL10 Zornitza Stark reviewed gene: KLHL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17047026, 15136734, 31479588; Phenotypes: Spermatogenic failure 11, MIM# 615081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11270 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777
Mendeliome v0.11269 FBXO28 Zornitza Stark edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777
Mendeliome v0.11269 TLN1 Bryony Thompson Marked gene: TLN1 as ready
Mendeliome v0.11269 TLN1 Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11269 TLN1 Bryony Thompson Classified gene: TLN1 as Amber List (moderate evidence)
Mendeliome v0.11269 TLN1 Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11268 TLN1 Bryony Thompson gene: TLN1 was added
gene: TLN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLN1 were set to 30888838
Phenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385
Review for gene: TLN1 was set to AMBER
Added comment: 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted.
Sources: Literature
Mendeliome v0.11267 NAT8L Krithika Murali reviewed gene: NAT8L: Rating: AMBER; Mode of pathogenicity: None; Publications: 11310630, 19807691, 32275776; Phenotypes: ?N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11267 KLK1 Zornitza Stark Marked gene: KLK1 as ready
Mendeliome v0.11267 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11267 KLK1 Zornitza Stark Phenotypes for gene: KLK1 were changed from to [Kallikrein, decreased urinary activity of] 615953
Mendeliome v0.11266 KLK1 Zornitza Stark Classified gene: KLK1 as Red List (low evidence)
Mendeliome v0.11266 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11265 KLK1 Zornitza Stark reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Kallikrein, decreased urinary activity of] 615953; Mode of inheritance: None
Mendeliome v0.11265 KLKB1 Zornitza Stark Marked gene: KLKB1 as ready
Mendeliome v0.11265 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11265 KLKB1 Zornitza Stark Phenotypes for gene: KLKB1 were changed from to Fletcher factor (prekallikrein) deficiency, MIM# 612423
Mendeliome v0.11264 KLKB1 Zornitza Stark Publications for gene: KLKB1 were set to
Mendeliome v0.11263 KLKB1 Zornitza Stark Mode of inheritance for gene: KLKB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11262 KLKB1 Zornitza Stark Classified gene: KLKB1 as Amber List (moderate evidence)
Mendeliome v0.11262 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11261 KLKB1 Zornitza Stark reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15461630, 33073460; Phenotypes: Fletcher factor (prekallikrein) deficiency, MIM# 612423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11261 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Mendeliome v0.11261 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Mendeliome v0.11261 KRT1 Zornitza Stark Phenotypes for gene: KRT1 were changed from to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962
Mendeliome v0.11260 KRT1 Zornitza Stark Publications for gene: KRT1 were set to
Mendeliome v0.11259 KRT1 Zornitza Stark Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11258 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7511022, 21271994, 11286630; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590, Palmoplantar keratoderma, epidermolytic, MIM# 144200, Palmoplantar keratoderma, nonepidermolytic, MIM# 600962; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11258 KRT12 Zornitza Stark Marked gene: KRT12 as ready
Mendeliome v0.11258 KRT12 Zornitza Stark Gene: krt12 has been classified as Green List (High Evidence).
Mendeliome v0.11258 KRT12 Zornitza Stark Phenotypes for gene: KRT12 were changed from to Meesmann corneal dystrophy 1, MIM# 122100
Mendeliome v0.11257 KRT12 Zornitza Stark Publications for gene: KRT12 were set to
Mendeliome v0.11256 KRT12 Zornitza Stark Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11255 KRT12 Zornitza Stark reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11255 NAT2 Krithika Murali reviewed gene: NAT2: Rating: RED; Mode of pathogenicity: None; Publications: 22409928, 33932406; Phenotypes: [Acetylation, slow] - MIM#243400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11255 TSR1 Bryony Thompson Marked gene: TSR1 as ready
Mendeliome v0.11255 TSR1 Bryony Thompson Gene: tsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.11255 TSR1 Bryony Thompson gene: TSR1 was added
gene: TSR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSR1 were set to 31296288; 31296287
Phenotypes for gene: TSR1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385
Review for gene: TSR1 was set to RED
Added comment: A single case-control study with 85 SCAD cases and 296 non-SCAD controls from the Chinese Han population that underwent exome sequencing. TSR1 was the top hit in association analyses (p < 5.41 × 10-5 in both the optimal sequence kernel association and mixed effects score tests), with 5 variants identified in 8 SCAD cases.
Sources: Literature
Mendeliome v0.11254 TMEM151A Bryony Thompson Marked gene: TMEM151A as ready
Mendeliome v0.11254 TMEM151A Bryony Thompson Gene: tmem151a has been classified as Green List (High Evidence).
Mendeliome v0.11254 TMEM151A Bryony Thompson Classified gene: TMEM151A as Green List (high evidence)
Mendeliome v0.11254 TMEM151A Bryony Thompson Gene: tmem151a has been classified as Green List (High Evidence).
Mendeliome v0.11253 TMEM151A Bryony Thompson gene: TMEM151A was added
gene: TMEM151A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM151A were set to 34820915; 34518509
Phenotypes for gene: TMEM151A were set to episodic kinesigenic dyskinesia MONDO:0044202
Review for gene: TMEM151A was set to GREEN
Added comment: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families
PMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease.
Sources: Literature
Mendeliome v0.11252 KRT13 Zornitza Stark Marked gene: KRT13 as ready
Mendeliome v0.11252 KRT13 Zornitza Stark Gene: krt13 has been classified as Green List (High Evidence).
Mendeliome v0.11252 KRT13 Zornitza Stark Phenotypes for gene: KRT13 were changed from to White sponge nevus 2, MIM# 615785
Mendeliome v0.11251 KRT13 Zornitza Stark Publications for gene: KRT13 were set to
Mendeliome v0.11250 KRT13 Zornitza Stark Mode of inheritance for gene: KRT13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11249 KRT13 Zornitza Stark reviewed gene: KRT13: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493031, 14600690, 32758484, 29476668; Phenotypes: White sponge nevus 2, MIM# 615785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11249 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Mendeliome v0.11249 KRT16 Zornitza Stark Gene: krt16 has been classified as Green List (High Evidence).
Mendeliome v0.11249 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)
Mendeliome v0.11248 KRT16 Zornitza Stark Publications for gene: KRT16 were set to
Mendeliome v0.11247 KRT16 Zornitza Stark Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11246 KRT16 Zornitza Stark reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11246 KRT18 Zornitza Stark Marked gene: KRT18 as ready
Mendeliome v0.11246 KRT18 Zornitza Stark Gene: krt18 has been classified as Red List (Low Evidence).
Mendeliome v0.11246 KRT18 Zornitza Stark Phenotypes for gene: KRT18 were changed from to Cirrhosis, cryptogenic , MIM#215600
Mendeliome v0.11245 KRT18 Zornitza Stark Publications for gene: KRT18 were set to
Mendeliome v0.11244 KRT18 Zornitza Stark Classified gene: KRT18 as Red List (low evidence)
Mendeliome v0.11244 KRT18 Zornitza Stark Gene: krt18 has been classified as Red List (Low Evidence).
Mendeliome v0.11243 KRT18 Zornitza Stark reviewed gene: KRT18: Rating: RED; Mode of pathogenicity: None; Publications: 9011570, 27689336, 20538000; Phenotypes: Cirrhosis, cryptogenic , MIM#215600; Mode of inheritance: None
Mendeliome v0.11243 KRT25 Zornitza Stark Marked gene: KRT25 as ready
Mendeliome v0.11243 KRT25 Zornitza Stark Gene: krt25 has been classified as Green List (High Evidence).
Mendeliome v0.11243 KRT25 Zornitza Stark Phenotypes for gene: KRT25 were changed from to Woolly hair, autosomal recessive 3 MIM#616760
Mendeliome v0.11242 KRT25 Zornitza Stark Publications for gene: KRT25 were set to
Mendeliome v0.11241 KRT25 Zornitza Stark Mode of inheritance for gene: KRT25 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11240 KRT4 Zornitza Stark Marked gene: KRT4 as ready
Mendeliome v0.11240 KRT4 Zornitza Stark Gene: krt4 has been classified as Green List (High Evidence).
Mendeliome v0.11240 KRT4 Zornitza Stark Phenotypes for gene: KRT4 were changed from to White sponge naevus 1, MIM# 193900
Mendeliome v0.11239 KRT4 Zornitza Stark Publications for gene: KRT4 were set to
Mendeliome v0.11238 KRT4 Zornitza Stark Mode of inheritance for gene: KRT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11237 KRT4 Zornitza Stark reviewed gene: KRT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493030, 10652003, 12828738; Phenotypes: White sponge naevus 1, MIM# 193900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11237 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Mendeliome v0.11237 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11237 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from to Ectodermal dysplasia 7, hair/nail type MIM#614929; Hypotrichosis 3 , MIM# 613981; Woolly hair, autosomal dominant, MIM# 194300
Mendeliome v0.11236 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Mendeliome v0.11235 KRT74 Zornitza Stark Mode of inheritance for gene: KRT74 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11234 KRT74 Zornitza Stark Classified gene: KRT74 as Amber List (moderate evidence)
Mendeliome v0.11234 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11233 KRT74 Zornitza Stark reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 24714551, 21188418, 20346438, 21188418; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929, Hypotrichosis 3 , MIM# 613981, Woolly hair, autosomal dominant, MIM# 194300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11233 KRT75 Zornitza Stark Marked gene: KRT75 as ready
Mendeliome v0.11233 KRT75 Zornitza Stark Gene: krt75 has been classified as Red List (Low Evidence).
Mendeliome v0.11233 KRT75 Zornitza Stark Phenotypes for gene: KRT75 were changed from to {Pseudofolliculitis barbae, susceptibility to} 612318
Mendeliome v0.11232 KRT75 Zornitza Stark Classified gene: KRT75 as Red List (low evidence)
Mendeliome v0.11232 KRT75 Zornitza Stark Gene: krt75 has been classified as Red List (Low Evidence).
Mendeliome v0.11231 KRT75 Zornitza Stark reviewed gene: KRT75: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pseudofolliculitis barbae, susceptibility to} 612318; Mode of inheritance: None
Mendeliome v0.11231 KRT81 Zornitza Stark Marked gene: KRT81 as ready
Mendeliome v0.11231 KRT81 Zornitza Stark Gene: krt81 has been classified as Green List (High Evidence).
Mendeliome v0.11231 KRT81 Zornitza Stark Phenotypes for gene: KRT81 were changed from to Monilethrix, MIM# 158000
Mendeliome v0.11230 KRT81 Zornitza Stark Publications for gene: KRT81 were set to
Mendeliome v0.11229 KRT81 Zornitza Stark Mode of inheritance for gene: KRT81 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11228 KRT81 Zornitza Stark reviewed gene: KRT81: Rating: GREEN; Mode of pathogenicity: None; Publications: 9402962, 22628999; Phenotypes: Monilethrix, MIM# 158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11228 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Mendeliome v0.11228 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Mendeliome v0.11228 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239; Deafness, autosomal recessive 94 - MIM#618434
Mendeliome v0.11227 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Mendeliome v0.11226 NARS2 Zornitza Stark Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11225 PNPLA3 Zornitza Stark Marked gene: PNPLA3 as ready
Mendeliome v0.11225 PNPLA3 Zornitza Stark Gene: pnpla3 has been classified as Red List (Low Evidence).
Mendeliome v0.11225 PNPLA3 Zornitza Stark Phenotypes for gene: PNPLA3 were changed from to Susceptibility to nonalcoholic fatty liver disease
Mendeliome v0.11224 PNPLA3 Zornitza Stark Publications for gene: PNPLA3 were set to
Mendeliome v0.11223 PNPLA3 Zornitza Stark Mode of inheritance for gene: PNPLA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11222 PNPLA3 Zornitza Stark Classified gene: PNPLA3 as Red List (low evidence)
Mendeliome v0.11222 PNPLA3 Zornitza Stark Gene: pnpla3 has been classified as Red List (Low Evidence).
Mendeliome v0.11221 NANS Zornitza Stark Marked gene: NANS as ready
Mendeliome v0.11221 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Mendeliome v0.11221 NANS Zornitza Stark Phenotypes for gene: NANS were changed from to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442
Mendeliome v0.11220 NANS Zornitza Stark Publications for gene: NANS were set to
Mendeliome v0.11219 NANS Zornitza Stark Mode of inheritance for gene: NANS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11218 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Mendeliome v0.11218 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Mendeliome v0.11218 S1PR2 Zornitza Stark Phenotypes for gene: S1PR2 were changed from to Deafness, autosomal recessive 68, MIM# 610419
Mendeliome v0.11217 S1PR2 Zornitza Stark Publications for gene: S1PR2 were set to
Mendeliome v0.11216 S1PR2 Zornitza Stark Mode of inheritance for gene: S1PR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11215 S1PR2 Zornitza Stark reviewed gene: S1PR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805784, 29776397, 27383011; Phenotypes: Deafness, autosomal recessive 68, MIM# 610419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11215 NALCN Zornitza Stark Marked gene: NALCN as ready
Mendeliome v0.11215 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Mendeliome v0.11215 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
Mendeliome v0.11214 NALCN Zornitza Stark Publications for gene: NALCN were set to
Mendeliome v0.11213 NALCN Zornitza Stark Mode of inheritance for gene: NALCN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11212 NAGS Zornitza Stark Marked gene: NAGS as ready
Mendeliome v0.11212 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Mendeliome v0.11212 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency - MIM#237310
Mendeliome v0.11211 NAGS Zornitza Stark Publications for gene: NAGS were set to
Mendeliome v0.11210 NAGS Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11209 NACC1 Zornitza Stark Marked gene: NACC1 as ready
Mendeliome v0.11209 NACC1 Zornitza Stark Gene: nacc1 has been classified as Green List (High Evidence).
Mendeliome v0.11209 NACC1 Zornitza Stark Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393
Mendeliome v0.11208 NACC1 Zornitza Stark Publications for gene: NACC1 were set to
Mendeliome v0.11207 NACC1 Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11206 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Mendeliome v0.11206 NAA15 Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence).
Mendeliome v0.11206 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Mendeliome v0.11205 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Mendeliome v0.11204 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11203 NARS2 Krithika Murali reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11203 KRT83 Zornitza Stark Marked gene: KRT83 as ready
Mendeliome v0.11203 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11203 KRT83 Zornitza Stark Phenotypes for gene: KRT83 were changed from to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000
Mendeliome v0.11202 KRT83 Zornitza Stark Publications for gene: KRT83 were set to
Mendeliome v0.11201 KRT83 Zornitza Stark Mode of inheritance for gene: KRT83 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11200 KRT83 Zornitza Stark Classified gene: KRT83 as Amber List (moderate evidence)
Mendeliome v0.11200 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11199 KRT83 Zornitza Stark reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 27965375, 15744029, 25557232; Phenotypes: Erythrokeratodermia variabilis et progressiva 5, MIM# 617756, Monilethrix , MIM#158000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11199 PNPLA3 Paul De Fazio reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: 18820647; Phenotypes: Susceptibility to nonalcoholic fatty liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.11199 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Mendeliome v0.11199 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Mendeliome v0.11199 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602
Mendeliome v0.11198 KRT10 Zornitza Stark Publications for gene: KRT10 were set to
Mendeliome v0.11197 KRT10 Zornitza Stark Mode of pathogenicity for gene: KRT10 was changed from Other to None
Mendeliome v0.11196 KRT10 Zornitza Stark Mode of pathogenicity for gene: KRT10 was changed from to Other
Mendeliome v0.11195 KRT10 Zornitza Stark Mode of inheritance for gene: KRT10 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11194 ERLEC1 Bryony Thompson Marked gene: ERLEC1 as ready
Mendeliome v0.11194 ERLEC1 Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence).
Mendeliome v0.11194 ERLEC1 Bryony Thompson Phenotypes for gene: ERLEC1 were changed from Class III malocclusion to autosomal dominant prognathism MONDO:0008312
Mendeliome v0.11193 ERBB4 Bryony Thompson Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability to Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability MONDO:0001071
Mendeliome v0.11192 NANS Krithika Murali reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11192 NALCN Krithika Murali reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186, 30167850; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11192 NAGS Krithika Murali reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11192 IRX5 Zornitza Stark Publications for gene: IRX5 were set to 27453922; 33891002; 28041643; 32045705; 22581230; 17230486
Mendeliome v0.11191 IRX5 Zornitza Stark Mode of pathogenicity for gene: IRX5 was changed from to None
Mendeliome v0.11190 IRX5 Zornitza Stark Classified gene: IRX5 as Green List (high evidence)
Mendeliome v0.11190 IRX5 Zornitza Stark Gene: irx5 has been classified as Green List (High Evidence).
Mendeliome v0.11189 IRX5 Zornitza Stark edited their review of gene: IRX5: Added comment: Third family with Hamamy syndrome and homozygous missense variant reported, p.Arg168His. Two cousins, >4 meioses, good segregation data.

4th family as part of large heterogenous cohort of consanguineous families also reported with homozygous frameshift (last exon), but limited phenotypic data.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143
Mendeliome v0.11189 NACC1 Krithika Murali reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11189 NAA15 Krithika Murali reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103328, 29656860, 31127942, 28191889, 33557580, 28990276; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11189 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Mendeliome v0.11189 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Mendeliome v0.11189 EARS2 Bryony Thompson Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Mendeliome v0.11188 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Mendeliome v0.11187 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11186 EARS2 Bryony Thompson reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11186 KRT8 Zornitza Stark Mode of inheritance for gene: KRT8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11185 KRT8 Zornitza Stark Marked gene: KRT8 as ready
Mendeliome v0.11185 KRT8 Zornitza Stark Gene: krt8 has been classified as Red List (Low Evidence).
Mendeliome v0.11185 KRT8 Zornitza Stark Phenotypes for gene: KRT8 were changed from to Cirrhosis, cryptogenic, MIM# 215600
Mendeliome v0.11184 KRT8 Zornitza Stark Publications for gene: KRT8 were set to
Mendeliome v0.11183 KRT8 Zornitza Stark Mode of inheritance for gene: KRT8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11182 KRT8 Zornitza Stark Classified gene: KRT8 as Red List (low evidence)
Mendeliome v0.11182 KRT8 Zornitza Stark Gene: krt8 has been classified as Red List (Low Evidence).
Mendeliome v0.11181 KRT85 Zornitza Stark Marked gene: KRT85 as ready
Mendeliome v0.11181 KRT85 Zornitza Stark Gene: krt85 has been classified as Green List (High Evidence).
Mendeliome v0.11181 KRT85 Zornitza Stark Phenotypes for gene: KRT85 were changed from to Ectodermal dysplasia 4, hair/nail type MIM#602032
Mendeliome v0.11180 KRT85 Zornitza Stark Publications for gene: KRT85 were set to
Mendeliome v0.11179 KRT85 Zornitza Stark Mode of inheritance for gene: KRT85 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11178 KRT86 Zornitza Stark Marked gene: KRT86 as ready
Mendeliome v0.11178 KRT86 Zornitza Stark Gene: krt86 has been classified as Green List (High Evidence).
Mendeliome v0.11178 KRT86 Zornitza Stark Phenotypes for gene: KRT86 were changed from to Monilethrix, MIM# 158000
Mendeliome v0.11177 KRT86 Zornitza Stark Publications for gene: KRT86 were set to
Mendeliome v0.11176 KRT86 Zornitza Stark Mode of inheritance for gene: KRT86 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11175 KRT86 Zornitza Stark reviewed gene: KRT86: Rating: GREEN; Mode of pathogenicity: None; Publications: 9241275; Phenotypes: Monilethrix, MIM# 158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11175 KRT9 Zornitza Stark Marked gene: KRT9 as ready
Mendeliome v0.11175 KRT9 Zornitza Stark Gene: krt9 has been classified as Green List (High Evidence).
Mendeliome v0.11175 KRT9 Zornitza Stark Phenotypes for gene: KRT9 were changed from to Palmoplantar keratoderma, epidermolytic (MIM#144200)
Mendeliome v0.11174 KRT9 Zornitza Stark Publications for gene: KRT9 were set to
Mendeliome v0.11173 KRT9 Zornitza Stark Mode of inheritance for gene: KRT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11172 KRT9 Zornitza Stark reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 29044727, 7512862; Phenotypes: Palmoplantar keratoderma, epidermolytic (MIM#144200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11172 KY Zornitza Stark Marked gene: KY as ready
Mendeliome v0.11172 KY Zornitza Stark Gene: ky has been classified as Green List (High Evidence).
Mendeliome v0.11172 KY Zornitza Stark Phenotypes for gene: KY were changed from to Myopathy, myofibrillar, 7, MIM#617114
Mendeliome v0.11171 KY Zornitza Stark Publications for gene: KY were set to
Mendeliome v0.11170 KY Zornitza Stark Mode of inheritance for gene: KY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11169 KY Zornitza Stark reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 11136708, 27485408, 27484770, 30591934; Phenotypes: Myopathy, myofibrillar, 7, MIM#617114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11169 KYNU Zornitza Stark Marked gene: KYNU as ready
Mendeliome v0.11169 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Mendeliome v0.11169 KYNU Zornitza Stark Phenotypes for gene: KYNU were changed from to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism
Mendeliome v0.11168 KYNU Zornitza Stark Publications for gene: KYNU were set to
Mendeliome v0.11167 KYNU Zornitza Stark Mode of inheritance for gene: KYNU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11166 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Mendeliome v0.11166 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Mendeliome v0.11166 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, MIM# 118450; Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574
Mendeliome v0.11165 JAG1 Zornitza Stark Publications for gene: JAG1 were set to
Mendeliome v0.11164 JAG1 Zornitza Stark Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11163 JAG1 Zornitza Stark changed review comment from: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature; to: Association with Alagille is very well established.

Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Mendeliome v0.11163 JAG1 Zornitza Stark edited their review of gene: JAG1: Changed phenotypes: Alagille syndrome 1, MIM# 118450, Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574
Mendeliome v0.11163 JUP Zornitza Stark Marked gene: JUP as ready
Mendeliome v0.11163 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Mendeliome v0.11163 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Mendeliome v0.11162 JUP Zornitza Stark Publications for gene: JUP were set to
Mendeliome v0.11161 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11160 JUP Zornitza Stark edited their review of gene: JUP: Changed phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214
Mendeliome v0.11160 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 2945574, 21668431, 2945574, 9610536, 18937352, 10902626, 15851108, 27170944, 11691526, 16893920, 29802319, 31275992, 25820315, 25820315, 25765472, 25705887, 25087486, 21668431, 20130592, 17924338, 20031617, 10902626, 20130592, 21320868, 32212272; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11160 JPT1 Zornitza Stark Marked gene: JPT1 as ready
Mendeliome v0.11160 JPT1 Zornitza Stark Gene: jpt1 has been classified as Red List (Low Evidence).
Mendeliome v0.11160 JPT1 Zornitza Stark Classified gene: JPT1 as Red List (low evidence)
Mendeliome v0.11160 JPT1 Zornitza Stark Gene: jpt1 has been classified as Red List (Low Evidence).
Mendeliome v0.11159 JAK2 Zornitza Stark Marked gene: JAK2 as ready
Mendeliome v0.11159 JAK2 Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11159 JAK2 Zornitza Stark Phenotypes for gene: JAK2 were changed from to Thrombocythaemia 3, MIM# 614521
Mendeliome v0.11158 JAK2 Zornitza Stark Publications for gene: JAK2 were set to
Mendeliome v0.11157 JAK2 Zornitza Stark Mode of inheritance for gene: JAK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11156 JAK2 Zornitza Stark Classified gene: JAK2 as Amber List (moderate evidence)
Mendeliome v0.11156 JAK2 Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11155 JAK2 Zornitza Stark Tag somatic tag was added to gene: JAK2.
Mendeliome v0.11155 JAK2 Zornitza Stark reviewed gene: JAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22397670, 35129130; Phenotypes: Thrombocythaemia 3, MIM# 614521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11155 ZNF644 Zornitza Stark Marked gene: ZNF644 as ready
Mendeliome v0.11155 ZNF644 Zornitza Stark Gene: znf644 has been classified as Green List (High Evidence).
Mendeliome v0.11155 ZNF644 Zornitza Stark Phenotypes for gene: ZNF644 were changed from to Myopia 21, autosomal dominant, MIM# 614167
Mendeliome v0.11154 ZNF644 Zornitza Stark Publications for gene: ZNF644 were set to
Mendeliome v0.11153 ZNF644 Zornitza Stark Mode of inheritance for gene: ZNF644 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11152 ZNF644 Zornitza Stark reviewed gene: ZNF644: Rating: GREEN; Mode of pathogenicity: None; Publications: 21695231, 30834109, 31560770, 24991186; Phenotypes: Myopia 21, autosomal dominant, MIM# 614167; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11152 ZNF513 Zornitza Stark Marked gene: ZNF513 as ready
Mendeliome v0.11152 ZNF513 Zornitza Stark Gene: znf513 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11152 ZNF513 Zornitza Stark Phenotypes for gene: ZNF513 were changed from to Retinitis pigmentosa 58 MIM#613617
Mendeliome v0.11151 ZNF513 Zornitza Stark Publications for gene: ZNF513 were set to
Mendeliome v0.11150 ZNF513 Zornitza Stark Mode of inheritance for gene: ZNF513 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11149 ZNF513 Zornitza Stark Classified gene: ZNF513 as Amber List (moderate evidence)
Mendeliome v0.11149 ZNF513 Zornitza Stark Gene: znf513 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11148 ZNF513 Zornitza Stark reviewed gene: ZNF513: Rating: AMBER; Mode of pathogenicity: None; Publications: 20797688; Phenotypes: Retinitis pigmentosa 58 MIM#613617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11148 ZNF408 Zornitza Stark Marked gene: ZNF408 as ready
Mendeliome v0.11148 ZNF408 Zornitza Stark Gene: znf408 has been classified as Green List (High Evidence).
Mendeliome v0.11148 ZNF408 Zornitza Stark Phenotypes for gene: ZNF408 were changed from to Exudative vitreoretinopathy 6, MIM# 616468; Retinitis pigmentosa 72, MIM# 616469
Mendeliome v0.11147 ZNF408 Zornitza Stark Publications for gene: ZNF408 were set to
Mendeliome v0.11146 ZNF408 Zornitza Stark Mode of inheritance for gene: ZNF408 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11145 ZNF408 Zornitza Stark reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: None; Publications: 23716654, 32530348, 32097476, 32238352, 30998249, 29982478, 25882705, 34259982, 28095122; Phenotypes: Exudative vitreoretinopathy 6, MIM# 616468, Retinitis pigmentosa 72, MIM# 616469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11145 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Mendeliome v0.11145 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Mendeliome v0.11145 ZNF335 Zornitza Stark Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive (MIM#615095)
Mendeliome v0.11144 ZNF335 Zornitza Stark Publications for gene: ZNF335 were set to
Mendeliome v0.11143 ZNF335 Zornitza Stark Mode of inheritance for gene: ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11142 ZNF335 Zornitza Stark reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive (MIM#615095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11142 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Mendeliome v0.11142 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence).
Mendeliome v0.11142 ZMYND11 Zornitza Stark Phenotypes for gene: ZMYND11 were changed from to Mental retardation, autosomal dominant 30, MIM# 616083
Mendeliome v0.11141 ZMYND11 Zornitza Stark Publications for gene: ZMYND11 were set to
Mendeliome v0.11140 ZMYND11 Zornitza Stark Mode of inheritance for gene: ZMYND11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11139 ZMYND11 Zornitza Stark reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: None; Publications: 32097528, 34216016; Phenotypes: Mental retardation, autosomal dominant 30 MIM# 616083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11139 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Mendeliome v0.11139 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Green List (High Evidence).
Mendeliome v0.11139 ZFPM2 Zornitza Stark Phenotypes for gene: ZFPM2 were changed from to Diaphragmatic hernia 3, MIM# 610187; 46XY sex reversal 9 (MIM#616067); Tetralogy of Fallot, MIM# 187500
Mendeliome v0.11138 ZFPM2 Zornitza Stark Publications for gene: ZFPM2 were set to
Mendeliome v0.11137 ZFPM2 Zornitza Stark Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11136 ZFPM2 Zornitza Stark reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16103912, 17568391, 24702427, 24549039, 27899157, 31962012, 12223418, 20807224, 21919901, 24469719, 26959486; Phenotypes: Diaphragmatic hernia 3, MIM# 610187, 46XY sex reversal 9 (MIM#616067), Tetralogy of Fallot, MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11136 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775
Mendeliome v0.11135 MAN2C1 Zornitza Stark reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11135 RPA1 Zornitza Stark Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mendeliome v0.11134 RPA1 Zornitza Stark edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres
Mendeliome v0.11134 OPCML Zornitza Stark Marked gene: OPCML as ready
Mendeliome v0.11134 OPCML Zornitza Stark Gene: opcml has been classified as Red List (Low Evidence).
Mendeliome v0.11134 OPCML Zornitza Stark Phenotypes for gene: OPCML were changed from to Ovarian cancer, somatic, MIM#167000
Mendeliome v0.11133 OPCML Zornitza Stark Classified gene: OPCML as Red List (low evidence)
Mendeliome v0.11133 OPCML Zornitza Stark Gene: opcml has been classified as Red List (Low Evidence).
Mendeliome v0.11132 OPCML Naomi Baker reviewed gene: OPCML: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian cancer, somatic, MIM#167000; Mode of inheritance: Other
Mendeliome v0.11132 NFE2L1 Bryony Thompson Marked gene: NFE2L1 as ready
Mendeliome v0.11132 NFE2L1 Bryony Thompson Gene: nfe2l1 has been classified as Red List (Low Evidence).
Mendeliome v0.11132 NFE2L1 Bryony Thompson gene: NFE2L1 was added
gene: NFE2L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NFE2L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFE2L1 were set to 35112409
Phenotypes for gene: NFE2L1 were set to Syndromic disease, MONDO:0002254
Review for gene: NFE2L1 was set to RED
Added comment: A single patient with developmental delay, hypotonia, hypospadias, bifid scrotum, and failure to thrive, with a heterozygous nonsense variant in the last exon. In vitro functional assays suggest a dominant-negative effect.
Sources: Literature
Mendeliome v0.11131 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Mendeliome v0.11131 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Mendeliome v0.11131 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from to IUGR; Diabetes mellitus, transient neonatal 1 OMIM:601410; Multi Locus Imprinting Disturbance; diabetes mellitus, transient neonatal, 1, MONDO:0011073
Mendeliome v0.11130 ZFP57 Zornitza Stark Publications for gene: ZFP57 were set to
Mendeliome v0.11129 ZFP57 Zornitza Stark Mode of inheritance for gene: ZFP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11128 ZFP57 Zornitza Stark reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393, 27075368, 23150280, 30315371, 31399135, 33053156; Phenotypes: IUGR, Diabetes mellitus, transient neonatal 1 OMIM:601410, Multi Locus Imprinting Disturbance, diabetes mellitus, transient neonatal, 1MONDO:0011073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11128 XYLT2 Zornitza Stark Marked gene: XYLT2 as ready
Mendeliome v0.11128 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Mendeliome v0.11128 XYLT2 Zornitza Stark Phenotypes for gene: XYLT2 were changed from to Spondyloocular syndrome MIM# 605822
Mendeliome v0.11127 XYLT2 Zornitza Stark Publications for gene: XYLT2 were set to
Mendeliome v0.11126 XYLT2 Zornitza Stark Mode of inheritance for gene: XYLT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11125 XYLT2 Zornitza Stark reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM# 605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11125 XRCC3 Zornitza Stark Marked gene: XRCC3 as ready
Mendeliome v0.11125 XRCC3 Zornitza Stark Gene: xrcc3 has been classified as Red List (Low Evidence).
Mendeliome v0.11125 XRCC3 Zornitza Stark Classified gene: XRCC3 as Red List (low evidence)
Mendeliome v0.11125 XRCC3 Zornitza Stark Gene: xrcc3 has been classified as Red List (Low Evidence).
Mendeliome v0.11124 XRCC3 Zornitza Stark reviewed gene: XRCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11124 XIAP Zornitza Stark Marked gene: XIAP as ready
Mendeliome v0.11124 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Mendeliome v0.11124 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Mendeliome v0.11123 XIAP Zornitza Stark Publications for gene: XIAP were set to
Mendeliome v0.11122 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11121 XIAP Zornitza Stark reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22228567, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2, MIM# 300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11121 XG Zornitza Stark Marked gene: XG as ready
Mendeliome v0.11121 XG Zornitza Stark Gene: xg has been classified as Red List (Low Evidence).
Mendeliome v0.11121 XG Zornitza Stark Classified gene: XG as Red List (low evidence)
Mendeliome v0.11121 XG Zornitza Stark Gene: xg has been classified as Red List (Low Evidence).
Mendeliome v0.11120 XG Zornitza Stark reviewed gene: XG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11120 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Mendeliome v0.11119 QDPR Zornitza Stark Publications for gene: QDPR were set to
Mendeliome v0.11118 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11117 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11117 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Mendeliome v0.11116 RRM2B Zornitza Stark Publications for gene: RRM2B were set to 24741716
Mendeliome v0.11115 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32827185; Phenotypes: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11115 OPDM4 Bryony Thompson Marked STR: OPDM4 as ready
Mendeliome v0.11115 OPDM4 Bryony Thompson Str: opdm4 has been classified as Green List (High Evidence).
Mendeliome v0.11115 OPDM4 Bryony Thompson Classified STR: OPDM4 as Green List (high evidence)
Mendeliome v0.11115 OPDM4 Bryony Thompson Str: opdm4 has been classified as Green List (High Evidence).
Mendeliome v0.11114 OPDM4 Bryony Thompson STR: OPDM4 was added
STR: OPDM4 was added to Mendeliome. Sources: Literature
Mode of inheritance for STR: OPDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: OPDM4 were set to 35148830
Phenotypes for STR: OPDM4 were set to Oculopharyngodistal myopathy MONDO:0025193
Review for STR: OPDM4 was set to GREEN
STR: OPDM4 was marked as clinically relevant
Added comment: 5'UTR repeat upstream of RILPL1. Analyses suggest that toxic RNA gain-of-function is the mechanism of disease for the repeat expansion. Distribution of CGG repeat units in RILPL1 ranged from 9 to 16 among 200 normal controls. The size of the CGG repeat ranged from 139 to 197 (169.91 ± 21.82) repeats in 11 unrelated individuals with OPDM. Segregation evidence from 1 family, with 2 affected individuals with the repeat expansion and 1 individual with essential tremor but not OPDM and 86 repeats (intermediate).
Sources: Literature
Mendeliome v0.11113 NSRP1 Zornitza Stark edited their review of gene: NSRP1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Epilepsy, Cerebral palsy, microcephaly, Intellectual disability
Mendeliome v0.11113 RECQL Alison Yeung Marked gene: RECQL as ready
Mendeliome v0.11113 RECQL Alison Yeung Gene: recql has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11113 RECQL Alison Yeung Classified gene: RECQL as Amber List (moderate evidence)
Mendeliome v0.11113 RECQL Alison Yeung Gene: recql has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11112 HIST1H4E Alison Yeung Marked gene: HIST1H4E as ready
Mendeliome v0.11112 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Mendeliome v0.11112 HIST1H4E Alison Yeung Classified gene: HIST1H4E as Green List (high evidence)
Mendeliome v0.11112 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Mendeliome v0.11111 HIST1H4D Zornitza Stark Marked gene: HIST1H4D as ready
Mendeliome v0.11111 HIST1H4D Zornitza Stark Gene: hist1h4d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11111 HIST1H4D Zornitza Stark Classified gene: HIST1H4D as Amber List (moderate evidence)
Mendeliome v0.11111 HIST1H4D Zornitza Stark Gene: hist1h4d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11110 RECQL Dean Phelan gene: RECQL was added
gene: RECQL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RECQL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL were set to PMID: 35025765
Phenotypes for gene: RECQL were set to Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities
Review for gene: RECQL was set to AMBER
Added comment: PMID: 35025765
- Homozygous missense variants identified in two seemingly unrelated families with a genome instability disorder. Both families had the same missense variant. Phenotype was progeroid facial features, skin photosensitivity, xeroderma, and slender elongated thumbs.
Sources: Literature
Mendeliome v0.11110 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Green List (high evidence)
Mendeliome v0.11110 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Mendeliome v0.11109 HIST1H4E Paul De Fazio changed review comment from: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).
A zebrafish model has developmental defects.
Sources: Literature; to: HGNC recognised gene: H4C5
17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).
A zebrafish model has developmental defects.
Sources: Literature
Mendeliome v0.11109 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Mendeliome v0.11108 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to 28920961
Mendeliome v0.11107 HIST1H4C Paul De Fazio changed review comment from: 6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).
A zebrafish model has developmental defects.; to: HGNC recognised gene: H4C3
6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).
A zebrafish model has developmental defects.
Mendeliome v0.11107 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Mendeliome v0.11107 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Mendeliome v0.11107 AL117258.1 Zornitza Stark Marked gene: AL117258.1 as ready
Mendeliome v0.11107 AL117258.1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is CIROP. Previous alias LMLN2.
Mendeliome v0.11107 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Mendeliome v0.11107 AL117258.1 Melanie Marty changed review comment from: Gene also known as CIROP

Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.

Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.
Sources: Literature; to: Gene also known as CIROP and LMLN2

Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.

Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.
Sources: Literature
Mendeliome v0.11107 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy, congenital heart defects to Heterotaxy MONDO:0018677, congenital heart defects
Mendeliome v0.11106 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Mendeliome v0.11105 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Mendeliome v0.11105 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Mendeliome v0.11104 AL117258.1 Zornitza Stark Classified gene: AL117258.1 as Green List (high evidence)
Mendeliome v0.11104 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Mendeliome v0.11103 AL117258.1 Zornitza Stark Tag new gene name tag was added to gene: AL117258.1.
Mendeliome v0.11103 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Mendeliome v0.11103 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11103 HIST1H4E Paul De Fazio gene: HIST1H4E was added
gene: HIST1H4E was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4E were set to 35202563
Phenotypes for gene: HIST1H4E were set to Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092
Review for gene: HIST1H4E was set to GREEN
gene: HIST1H4E was marked as current diagnostic
Added comment: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).
A zebrafish model has developmental defects.
Sources: Literature
Mendeliome v0.11103 HIST1H4D Paul De Fazio gene: HIST1H4D was added
gene: HIST1H4D was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4D were set to 35202563
Phenotypes for gene: HIST1H4D were set to Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092
Review for gene: HIST1H4D was set to AMBER
gene: HIST1H4D was marked as current diagnostic
Added comment: Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from language delay and moderate ID, phenotypes included facial dysmorphisms and cochlear abnormalities and arhinencephaly on MRI. Hearing was normal. Birth length, OFC, weight were all reduced (-2 to -2.5SD).
A zebrafish model has developmental defects.
Sources: Literature
Mendeliome v0.11103 HIST1H4C Paul De Fazio edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C related MONDO:0700092
Mendeliome v0.11103 HIST1H4C Paul De Fazio edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder,HIST1H4C related MONDO:0700092
Mendeliome v0.11103 HIST1H4F Zornitza Stark Mode of inheritance for gene: HIST1H4F was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11102 HIST1H4F Zornitza Stark Phenotypes for gene: HIST1H4F were changed from Neurodevelopmental disorders to Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related
Mendeliome v0.11101 HIST1H4C Paul De Fazio reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.11101 HIST1H4F Zornitza Stark Classified gene: HIST1H4F as Amber List (moderate evidence)
Mendeliome v0.11101 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11100 NRCAM Alison Yeung Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, NRCAM-related, MONDO:0700092
Mendeliome v0.11099 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Intellectual disability syndrome
Review for gene: CPSF3 was set to GREEN
Added comment: study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes

Six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.

- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.
- Two of Mexican descent (p.Ile354Thr), first-degree cousins
Sources: Literature
Mendeliome v0.11099 ZBTB11 Chern Lim reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:35104841; Phenotypes: Intellectual developmental disorder, autosomal recessive 69 (MIM#618383), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11099 NRCAM Alison Yeung Classified gene: NRCAM as Green List (high evidence)
Mendeliome v0.11099 NRCAM Alison Yeung Gene: nrcam has been classified as Green List (High Evidence).
Mendeliome v0.11098 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Mendeliome v0.11098 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mendeliome v0.11098 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Mendeliome v0.11098 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mendeliome v0.11097 CRLS1 Zornitza Stark reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11097 AL117258.1 Melanie Marty gene: AL117258.1 was added
gene: AL117258.1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892
Phenotypes for gene: AL117258.1 were set to Heterotaxy, congenital heart defects
Review for gene: AL117258.1 was set to GREEN
Added comment: Gene also known as CIROP

Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.

Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers.
Sources: Literature
Mendeliome v0.11097 NAV2 Alison Yeung Marked gene: NAV2 as ready
Mendeliome v0.11097 NAV2 Alison Yeung Added comment: Comment when marking as ready: Single reported individual. Functional studies and mouse model supportive evidence.
Mendeliome v0.11097 NAV2 Alison Yeung Gene: nav2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11097 HIST1H4F Elena Savva gene: HIST1H4F was added
gene: HIST1H4F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4F were set to PMID: 35202563
Phenotypes for gene: HIST1H4F were set to Neurodevelopmental disorders
Review for gene: HIST1H4F was set to AMBER
Added comment: PMID: 35202563 - single de novo missense in a patient with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay.
- zebrafish studies show a significant increase in all of mild dev delay, necrosis, defective organogenesis and pre-gastrulation failure
Sources: Literature
Mendeliome v0.11097 NAV2 Alison Yeung Classified gene: NAV2 as Amber List (moderate evidence)
Mendeliome v0.11097 NAV2 Alison Yeung Gene: nav2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11096 HIST1H4I Zornitza Stark Marked gene: HIST1H4I as ready
Mendeliome v0.11096 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Mendeliome v0.11096 HIST1H4I Zornitza Stark Phenotypes for gene: HIST1H4I were changed from Neurodevelopmental syndrome to Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related
Mendeliome v0.11095 NRCAM Ee Ming Wong gene: NRCAM was added
gene: NRCAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to PMID: 35108495
Phenotypes for gene: NRCAM were set to neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: NRCAM were set to unknown
Review for gene: NRCAM was set to GREEN
gene: NRCAM was marked as current diagnostic
Added comment: -Ten individuals from 8 families with developmental delay/intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity.
- Affected individuals are biallelic for missense and/or LoF variants which are mainly in the fibronectin type III (Fn-III) domain
- Zebrafish mutants lacking the third Fn-III domain displayed significantly altered swimming behavior compared to wild-type larvae (p < 0.03) and a trend toward increased amounts of alpha-tubulin fibers in the dorsal telencephalon, demonstrating an alteration in white matter tracts and projections
Sources: Literature
Mendeliome v0.11095 HIST1H4I Zornitza Stark Mode of inheritance for gene: HIST1H4I was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11094 HIST1H4I Zornitza Stark Classified gene: HIST1H4I as Green List (high evidence)
Mendeliome v0.11094 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Mendeliome v0.11093 ZBTB7A Zornitza Stark Marked gene: ZBTB7A as ready
Mendeliome v0.11093 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Mendeliome v0.11093 ZBTB7A Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence)
Mendeliome v0.11093 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Mendeliome v0.11092 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related
Added comment: - Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis
Sources: Literature
Mendeliome v0.11092 HIST1H4I Elena Savva gene: HIST1H4I was added
gene: HIST1H4I was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4I was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4I were set to PMID: 35202563
Phenotypes for gene: HIST1H4I were set to Neurodevelopmental syndrome
Review for gene: HIST1H4I was set to GREEN
Added comment: PMID: 35202563
- 3 unrelated de novo patients, p.His75Arg was recurring and observed in 2/3 probands.
- Zebrafish study shows both variants resulted in a significant increases in developmental issues such as in mild dev delay, necrosis and defective organogenesis.
- All patients had intellectual disability and motor and/or gross developmental delay and dysmorphisms.
- 2/3 patients showed bilateral conductive hearing loss
Sources: Literature
Mendeliome v0.11092 NAV2 Dean Phelan gene: NAV2 was added
gene: NAV2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAV2 were set to PMID:35218524
Phenotypes for gene: NAV2 were set to Developmental delay; cerebellar hypoplasia; cerebellar dysplasia
Review for gene: NAV2 was set to AMBER
Added comment: PMID:35218524
- Two compound heterozygous LOF variants identified in one female with developmental delay and a diagnosis of cerebellar hypoplasia and dysplasia. Functional studies showed cellular migration deficits. Hypomorphic mouse model revealed developmental anomalies including cerebellar hypoplasia and dysplasia, corpus callosum hypo-dysgenesis, and agenesis of the olfactory bulbs.
Sources: Literature
Mendeliome v0.11092 ZBTB7A Daniel Flanagan gene: ZBTB7A was added
gene: ZBTB7A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB7A were set to 34515416; 31645653
Phenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)
Review for gene: ZBTB7A was set to GREEN
Added comment: PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo.

PMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea.
Sources: Expert list
Mendeliome v0.11092 ATP6V0A1 Chern Lim edited their review of gene: ATP6V0A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11092 ATP6V0A1 Chern Lim reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:34909687; Phenotypes: Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.11092 TIAM1 Alison Yeung Marked gene: TIAM1 as ready
Mendeliome v0.11092 TIAM1 Alison Yeung Gene: tiam1 has been classified as Green List (High Evidence).
Mendeliome v0.11092 TIAM1 Alison Yeung Classified gene: TIAM1 as Green List (high evidence)
Mendeliome v0.11092 TIAM1 Alison Yeung Gene: tiam1 has been classified as Green List (High Evidence).
Mendeliome v0.11091 TIAM1 Alison Yeung gene: TIAM1 was added
gene: TIAM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIAM1 were set to https://doi.org/10.1016/j.ajhg.2022.01.020
Phenotypes for gene: TIAM1 were set to Neurodevelopmental disorder, TIAM1-related, MONDO:0700092
Review for gene: TIAM1 was set to GREEN
Added comment: Reported in 4 unrelated individuals. Phenotype of developmental delay/intellectual disability and seizures. Loss of ortholog in Drosophila reduces the survival rate, and the surviving adults exhibit climbing defects, are prone to severe seizures, and have a short lifespan. Functional studies in 3 variants from two probands showed loss of function.
Sources: Literature
Mendeliome v0.11090 HIST1H4J Elena Savva reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35202563, 31804630; Phenotypes: Neurodevelopmental syndrome, microcephaly, intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11090 EHD1 Zornitza Stark Marked gene: EHD1 as ready
Mendeliome v0.11090 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11090 EHD1 Zornitza Stark Classified gene: EHD1 as Amber List (moderate evidence)
Mendeliome v0.11090 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11089 EHD1 Zornitza Stark gene: EHD1 was added
gene: EHD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHD1 were set to 35149593
Phenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related
Review for gene: EHD1 was set to AMBER
Added comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran. Single founder variant but two animal models, hence Amber
Sources: Literature
Mendeliome v0.11088 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750 to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, MIM# 619752; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750
Mendeliome v0.11087 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750
Mendeliome v0.11086 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant, Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750
Mendeliome v0.11086 PTCH1 Seb Lunke Marked gene: PTCH1 as ready
Mendeliome v0.11086 PTCH1 Seb Lunke Gene: ptch1 has been classified as Green List (High Evidence).
Mendeliome v0.11086 PTCH1 Seb Lunke Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828
Mendeliome v0.11085 PTCH1 Seb Lunke Publications for gene: PTCH1 were set to
Mendeliome v0.11084 PTCH1 Seb Lunke Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11083 PTCH1 Seb Lunke reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941477, 17001668, 29575684; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11083 RECQL4 Seb Lunke Marked gene: RECQL4 as ready
Mendeliome v0.11083 RECQL4 Seb Lunke Gene: recql4 has been classified as Green List (High Evidence).
Mendeliome v0.11083 RECQL4 Seb Lunke Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Mendeliome v0.11082 RECQL4 Seb Lunke Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11081 RECQL4 Seb Lunke reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11081 F8 Zornitza Stark Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700; MONDO:0010602 to Haemophilia A, MIM# 306700; MONDO:0010602; Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071
Mendeliome v0.11080 SF3B2 Zornitza Stark Phenotypes for gene: SF3B2 were changed from Craniofacial microsomia to Craniofacial microsomia, MIM#164210
Mendeliome v0.11079 AP3D1 Zornitza Stark Classified gene: AP3D1 as Green List (high evidence)
Mendeliome v0.11079 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Green List (High Evidence).
Mendeliome v0.11078 AP3D1 Zornitza Stark edited their review of gene: AP3D1: Added comment: Now four affected individuals from two unrelated families, with a mouse model that recapitulates the human phenotype.; Changed rating: GREEN; Changed publications: 26744459, 9697856, 30472485; Changed phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay
Mendeliome v0.11078 ADD3 Zornitza Stark edited their review of gene: ADD3: Changed rating: GREEN
Mendeliome v0.11078 ZNFX1 Zornitza Stark Publications for gene: ZNFX1 were set to 33872655; 33876776
Mendeliome v0.11077 PPP2R3C Zornitza Stark Marked gene: PPP2R3C as ready
Mendeliome v0.11077 PPP2R3C Zornitza Stark Gene: ppp2r3c has been classified as Green List (High Evidence).
Mendeliome v0.11077 PPP2R3C Zornitza Stark Classified gene: PPP2R3C as Green List (high evidence)
Mendeliome v0.11077 PPP2R3C Zornitza Stark Gene: ppp2r3c has been classified as Green List (High Evidence).
Mendeliome v0.11076 PPP2R3C Zornitza Stark gene: PPP2R3C was added
gene: PPP2R3C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419
Review for gene: PPP2R3C was set to GREEN
Added comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility.
Sources: Literature
Mendeliome v0.11075 CDX2 Zornitza Stark Phenotypes for gene: CDX2 were changed from Persistent cloaca to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Mendeliome v0.11074 CHKA Zornitza Stark Marked gene: CHKA as ready
Mendeliome v0.11074 CHKA Zornitza Stark Gene: chka has been classified as Green List (High Evidence).
Mendeliome v0.11074 CHKA Zornitza Stark Phenotypes for gene: CHKA were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature
Mendeliome v0.11073 CHKA Zornitza Stark Classified gene: CHKA as Green List (high evidence)
Mendeliome v0.11073 CHKA Zornitza Stark Gene: chka has been classified as Green List (High Evidence).
Mendeliome v0.11072 CDX2 Chirag Patel Classified gene: CDX2 as Green List (high evidence)
Mendeliome v0.11072 CDX2 Chirag Patel Gene: cdx2 has been classified as Green List (High Evidence).
Mendeliome v0.11071 CDX2 Chirag Patel edited their review of gene: CDX2: Added comment: 9 families, with heterozygous variants identified with WES, presenting with congenital abnormalities affecting the development of the anus, the renal and urogenital system, the vertebrae and/or the limbs in varying sequences and severity (incl. sirenomelia and persistent cloaca). A recurrent pathogenic missense variant in the HOX domain of the protein p.(Arg237His) was found in 3 unrelated families. In the mouse cdx2 is essential for anteroposterior patterning of embryonal axis and morphogenesis of cloacal structures. Cdx2 heterozygous conditional mutant mice show a variable phenotype (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies).; Changed rating: GREEN; Changed publications: PMID: 29177441, 34671974; Changed phenotypes: Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs; Set current diagnostic: yes
Mendeliome v0.11071 CHKA Konstantinos Varvagiannis gene: CHKA was added
gene: CHKA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKA were set to 35202461
Phenotypes for gene: CHKA were set to Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature
Penetrance for gene: CHKA were set to Complete
Review for gene: CHKA was set to GREEN
Added comment: Klöckner (2022 - PMID: 35202461) describe the phenotype of 6 individuals (from 5 unrelated families) harboring biallelic CHKA variants.

Shared features incl. abnormal muscle tone(6/6 - hypertonia or hypotonia, 3/6 each), DD/ID (6/6,severe in 4, severe/profound in 2), epilepsy (6/6 - onset: infancy - 3y2m | epileptic spasms or GS at onset), microcephaly (6/6), movement disorders (3/6 - incl. dyskinesia, rigidity, choreoatetotic movements). 2/5 individuals exhibited MRI abnormalities, notably hypomyelination. Short stature was observed in 4/6.

Eventual previous genetic testing was not discussed.

Exome sequencing (quattro ES for 2 sibs, trio ES for 1 individual, singleton for 3 probands) revealed biallelic CHKA variants in all affected individuals. Sanger sequencing was performed for confirmation and segregation studies.

Other variants (in suppl.) were not deemed to be causative for the neurodevelopmental phenotype.

3 different missense, 1 start-loss and 1 truncating variant were identified, namely (NM_0012772.2):
- c.421C>T/p.(Arg141Trp) [3 hmz subjects from 2 consanguineous families],
- c.580C>T/p.Pro194Ser [1 hmz individual born to consanguineous parents],
- c.2T>C/p.(Met1?) [1 hmz individual born to related parents],
- c.14dup/p.(Cys6Leufs*19) in trans with c.1021T>C/p.(Phe341Leu) in 1 individual.

CHKA encodes choline kinase alpha, an enzyme catalyzing the first step of phospholipid synthesis in the Kennedy pathway. The pathway is involved in de novo synthesis of glycerophospholipids, phosphatidylcholine and phosphatidylethanolamine being the most abundant in eukaryotic membranes.

CHKA with its paralog (CHKB) phosphorylates either choline or ethanolamine to phosphocholine or phosphoethanolamine respectively with conversion of ATP to ADP.

As the authors comment, biallelic pathogenic variants in CHKB cause a NDD with muscular dystrophy, hypotonia, ID, microcephaly and structural mitochondrial anomalies (MIM 602541). [Prominent mitochondrial patterning was observed in a single muscle biopsy available from an individual with biallelic CHKA variants].

Other disorders of the Kennedy pathway (due to biallelic PCYT2, SELENOI, PCYT1A variants) present with overlapping features incl. variable DD/ID (no-severe), microcephaly, seizures, visual impairment etc.

CHKA variants were either absent or observed once in gnomAD, affected highly conserved AAs with multiple in silico predictions in favor of a deleterious effect.

In silico modeling suggests structural effects for several of the missense variants (Arg141Trp, Pro194Ser presumably affect ADP binding, Phe341 lying close to the binding site of phosphocholine).

Each of the missense variants was expressed in yeast cells and W. Blot suggested expression at the expected molecular weight at comparative levels. The 3 aforementioned variants exhibited reduced catalytic activity (20%, 15%, 50% respectively).

NMD is thought to underly the deleterious effect of the frameshift one (not studied).

The start-loss variant is expected to result in significantly impaired expression and protein function as eventual utilization of the next possible start codon - occurring at position 123 - would remove 26% of the protein.

Chka(-/-) is embryonically lethal in mice, suggesting that complete loss is not compatible with life. Reduction of choline kinase activity by 30% in heterozygous mice did not appear to result in behavioral abnormalities although this was not studied in detail (PMID cited: 18029352). Finally, screening of 1566 mouse lines identified 198 genes whose disruption yields neuroanatomical phenotypes, Chka(+/-) mice being among these (PMID cited: 31371714).

There is no associated phenotype in OMIM, Gene2Phenotype or SysID.

Overall this gene can be considered for inclusion in the ID and epilepsy panes with green or amber rating (>3 individuals, >3 variants, variant studies, overlapping phenotype of disorders belonging to the same pathway, etc). Consider also inclusion in the microcephaly panel (where available this seemed to be of postnatal onset).
Sources: Literature
Mendeliome v0.11071 BRD4 Zornitza Stark Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033
Mendeliome v0.11070 SOST Zornitza Stark Tag SV/CNV tag was added to gene: SOST.
Mendeliome v0.11070 SOST Seb Lunke Marked gene: SOST as ready
Mendeliome v0.11070 SOST Seb Lunke Gene: sost has been classified as Green List (High Evidence).
Mendeliome v0.11070 SOST Seb Lunke Phenotypes for gene: SOST were changed from to Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860
Mendeliome v0.11069 SOST Seb Lunke Publications for gene: SOST were set to
Mendeliome v0.11068 SOST Seb Lunke Mode of inheritance for gene: SOST was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11067 SOST Seb Lunke reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301406, 35160258, 21221996, 17853455; Phenotypes: Sclerosteosis 1, OMIM#269500, Craniodiaphyseal dysplasia, OMIM#122860; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11067 GRK2 Zornitza Stark Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Mendeliome v0.11066 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Mendeliome v0.11066 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Mendeliome v0.11066 PTDSS1 Zornitza Stark Phenotypes for gene: PTDSS1 were changed from to Lenz-Majewski hyperostotic dwarfism MIM#151050
Mendeliome v0.11065 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Mendeliome v0.11064 PTDSS1 Zornitza Stark Mode of inheritance for gene: PTDSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11063 PTDSS1 Zornitza Stark reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24241535, 29341480, 31403251; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11063 SLC22A4 Zornitza Stark Marked gene: SLC22A4 as ready
Mendeliome v0.11063 SLC22A4 Zornitza Stark Gene: slc22a4 has been classified as Red List (Low Evidence).
Mendeliome v0.11063 SLC22A4 Zornitza Stark Phenotypes for gene: SLC22A4 were changed from to susceptibility to rheumatoid arthritis MIM#180300
Mendeliome v0.11062 SLC22A4 Zornitza Stark Publications for gene: SLC22A4 were set to
Mendeliome v0.11061 SLC22A4 Zornitza Stark Classified gene: SLC22A4 as Red List (low evidence)
Mendeliome v0.11061 SLC22A4 Zornitza Stark Gene: slc22a4 has been classified as Red List (Low Evidence).
Mendeliome v0.11060 HSF2BP Zornitza Stark Publications for gene: HSF2BP were set to 32845237
Mendeliome v0.11059 HSF2BP Zornitza Stark Classified gene: HSF2BP as Green List (high evidence)
Mendeliome v0.11059 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Green List (High Evidence).
Mendeliome v0.11058 HSF2BP Zornitza Stark edited their review of gene: HSF2BP: Added comment: An additional two patients are described with homozygous missense variants, with supportive in vitro functional assay. PMID: 35174157 Now there are 5 affected patients from three independent families and three different biallelic missense variants associated with the condition.; Changed rating: GREEN; Changed publications: 32845237, 35174157
Mendeliome v0.11058 SLC22A4 Ain Roesley reviewed gene: SLC22A4: Rating: RED; Mode of pathogenicity: None; Publications: 15184985, 24972750; Phenotypes: susceptibility to rheumatoid arthritis MIM#180300; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.11058 AGO1 Zornitza Stark Phenotypes for gene: AGO1 were changed from Intellectual disability; autism to Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures
Mendeliome v0.11057 AGO1 Zornitza Stark Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Mendeliome v0.11056 AGO1 Krithika Murali reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35060114, 30213762, 25356899; Phenotypes: focal epilepsy, intellectual disability, global developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11056 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Mendeliome v0.11056 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Mendeliome v0.11056 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to Deafness, autosomal dominant 65 MIM#616044; Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Mendeliome v0.11055 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Mendeliome v0.11054 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11053 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Mendeliome v0.11053 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Mendeliome v0.11053 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Mendeliome v0.11052 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Mendeliome v0.11051 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11050 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Mendeliome v0.11050 RUNX2 Zornitza Stark Gene: runx2 has been classified as Green List (High Evidence).
Mendeliome v0.11050 RUNX2 Zornitza Stark Phenotypes for gene: RUNX2 were changed from to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Mendeliome v0.11049 RUNX2 Zornitza Stark Publications for gene: RUNX2 were set to
Mendeliome v0.11048 RUNX2 Zornitza Stark Mode of inheritance for gene: RUNX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11047 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Mendeliome v0.11047 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Mendeliome v0.11047 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Mendeliome v0.11046 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Mendeliome v0.11045 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11044 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Mendeliome v0.11044 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Mendeliome v0.11044 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Mendeliome v0.11043 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Mendeliome v0.11042 RNASET2 Zornitza Stark Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11041 C17orf53 Zornitza Stark Marked gene: C17orf53 as ready
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11041 C17orf53 Zornitza Stark Classified gene: C17orf53 as Amber List (moderate evidence)
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).