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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).
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389
Intellectual disability syndromic and non-syndromic v0.4579 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Intellectual disability syndromic and non-syndromic v0.4578 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4577 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1499 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
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1498 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Genetic Epilepsy v0.1497 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1496 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 v0.11777 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
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Parkinson disease 20, early-onset, MIM# 615530
Early-onset Parkinson disease v0.125 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Early-onset Parkinson disease v0.124 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.123 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23804563, 23804577, 27496670, 33841314; Phenotypes: Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: 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).
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Intellectual disability syndromic and non-syndromic v0.4576 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4575 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
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from Developmental and epileptic encephalopathy 18, OMIM #615476 to Developmental and epileptic encephalopathy 18, OMIM #615476
Genetic Epilepsy v0.1495 SZT2 Zornitza Stark Publications for gene: SZT2 were set to 23932106; 30560016; 30359774; 28556953; 32402703
Callosome v0.413 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Callosome v0.413 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Genetic Epilepsy v0.1494 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Callosome v0.412 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Callosome v0.411 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1493 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.410 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 v0.11774 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Mendeliome v0.11774 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1492 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 v0.11774 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
Genetic Epilepsy v0.1492 NDUFV2 Krithika Murali gene: NDUFV2 was added
gene: NDUFV2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to 33811136; 34405929; 12754703; 26008862; 30770271; 19167255
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Review for gene: NDUFV2 was set to AMBER
Added comment: 2 siblings diagnosed with seizures age 3 and 9 months. Seizures not reported in other cases.

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PMID 33811136 Liu et al 2021 - describe 4 individuals from 2 unrelated families with progressive cavitating leukoencephalopathy, recurring episodes of acute/subacute developmental regression in the first years
of life, followed by gradual remissions and prolonged periods of stability. Variant specific supportive functional evidence provided. MRI brain features - cystic changes in cerebral white matter, with corpus callosum involvement reported in 2 siblings.

PMID 34405929 Kishita et al 2021 - report two unrelated individuals with biallelic variants

PMID 12754703 Benit et al 2003 - report homozygous NDUFV2 4-bp deletion in intron 2 (IVS2+5_+8delGTAA) of the associated with early onset hypertrophic cardiomyopathy with trunk hypotonia in three affected sibs of a consanguineous family

PMID 26008862 Cameron et al 2015 report 5 affected individuals from 2 unrelated families
- Family 1 - intronic mutation (c.IVS2 þ 1delGTAA) + (c.669_670insG, p.Ser224Valfs*3) (hypertrophic cardiomyopathy, brain atrophy)
- Family 2 - homozygous intronic c.IVS2 þ 1delGTAA mutation (proband - seizures started at 2-3 months of age. Regression with progressive spasticity, nystagmus, optic atrophy and microcephaly was noted at 10 months of age. Repeat CT scans showed progressive caudate and putaminal cavitation, brain atrophy. Sibling - FTT, progressive microcephaly, spasticity, cerebral atrophy, still alive at 32 years. Affected male sibling - seizures age 9 months.

PMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy

PMID 19167255 Pagniez-Mammeri et al 2009 - limited clinical information, x1 individual homozygous for splice site variant
Sources: Literature
Callosome v0.410 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: AMBER; 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
Regression v0.446 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
Mitochondrial disease v0.746 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271, 33811136, 34405929; 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
Hydrops fetalis v0.228 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Hydrops fetalis v0.228 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.228 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4; #MIM:610733
Hydrops fetalis v0.227 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Hydrops fetalis v0.226 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 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
Hydrops fetalis v0.225 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003
Hydrops fetalis v0.223 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
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
Hydrops fetalis v0.222 TALDO1 Zornitza Stark Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.221 TALDO1 Zornitza Stark reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transaldolase deficiency, MIM# 606003; Mode of inheritance: 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
Retinitis pigmentosa v0.110 USH2A Zornitza Stark Marked gene: USH2A as ready
Retinitis pigmentosa v0.110 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.110 USH2A Zornitza Stark Publications for gene: USH2A were set to
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
Regression v0.446 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Regression v0.446 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Regression v0.446 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Regression v0.445 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Regression v0.444 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.443 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Regression v0.443 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v1.2 LOR Zornitza Stark Publications for gene: LOR were set to 8673107; 9326398; 9326323; 25234742; 25142840
Callosome v0.410 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Callosome v0.410 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Callosome v0.410 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Callosome v0.409 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Callosome v0.408 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.407 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Red List (low evidence)
Callosome v0.407 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mitochondrial disease v0.745 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mitochondrial disease v0.744 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 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).
Callosome v0.406 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Callosome v0.406 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Callosome v0.406 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Callosome v0.405 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Callosome v0.404 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.403 NDUFS4 Zornitza Stark Classified gene: NDUFS4 as Red List (low evidence)
Callosome v0.403 NDUFS4 Zornitza Stark Gene: ndufs4 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
Hydrops fetalis v0.221 SOS1 Abhijit Kulkarni reviewed gene: SOS1: 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: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, #MIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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
Hydrops fetalis v0.221 TALDO1 Abhijit Kulkarni reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186000, 26238251; Phenotypes: Fetal Hydrops, Oligohydromnios, IUGR, Congenital Heart Disease, Hyperechogenic bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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
Retinitis pigmentosa v0.109 USH2A Belinda Chong reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Disorders of immune dysregulation v0.111 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Disorders of immune dysregulation v0.110 UNC13D Zornitza Stark Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.109 UNC13D Zornitza Stark reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Complement Deficiencies v0.72 C8A Zornitza Stark Marked gene: C8A as ready
Complement Deficiencies v0.72 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.72 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Complement Deficiencies v0.71 C8A Zornitza Stark Publications for gene: C8A were set to
Complement Deficiencies v0.70 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.69 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Complement Deficiencies v0.69 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.68 C8A Zornitza Stark reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: 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).
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Marked gene: UNC119 as ready
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Publications for gene: UNC119 were set to 30679166
Cone-rod Dystrophy v0.33 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from ?Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993
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
Callosome v0.402 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Callosome v0.402 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Callosome v0.402 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Callosome v0.401 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Callosome v0.400 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.399 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Red List (low evidence)
Callosome v0.399 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mitochondrial disease v0.742 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mitochondrial disease v0.741 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.442 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Regression v0.442 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Regression v0.442 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Regression v0.441 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Regression v0.440 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence)
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
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).
Regression v0.439 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 27290639, 28429146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v1.1 LOR Teresa Zhao reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8673107, 11121146, 11038186; Phenotypes: Vohwinkel syndrome with ichthyosis (MIM#604117); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Callosome v0.398 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: RED; 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
Mitochondrial disease v0.740 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 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
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mitochondrial disease v0.739 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mitochondrial disease v0.738 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.
Callosome v0.398 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Callosome v0.398 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
Callosome v0.398 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Callosome v0.397 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Complement Deficiencies v0.68 C4A Ain Roesley edited their review of gene: C4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.396 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Callosome v0.395 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Red List (low evidence)
Callosome v0.395 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
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
Complement Deficiencies v0.68 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Regression v0.439 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Regression v0.439 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Regression v0.439 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Regression v0.438 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
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).
Complement Deficiencies v0.67 C4B Zornitza Stark Tag for review was removed from gene: C4B.
Regression v0.437 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Complement Deficiencies v0.67 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Green List (high evidence)
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.737 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mendeliome v0.11670 C4B Zornitza Stark Mode of inheritance for gene: C4B was changed from Unknown to Other
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 33751534; 24952175; 20382551; 21203893; 20797884; 15824269; 25615419; 11349233; 22399432
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
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
Mitochondrial disease v0.735 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to 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).
Complement Deficiencies v0.65 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mendeliome v0.11668 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Complement Deficiencies v0.66 C4A Ain Roesley Tag SV/CNV tag was added to gene: C4A.
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
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Regression v0.436 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Regression v0.435 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Regression v0.435 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Complement Deficiencies v0.65 C4A Ain Roesley Publications for gene: C4A were set to
Regression v0.435 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Complement Deficiencies v0.65 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Unknown to Other
Regression v0.435 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Complement Deficiencies v0.65 C4A Ain Roesley Classified gene: C4A as Amber List (moderate evidence)
Complement Deficiencies v0.65 C4A Ain Roesley Gene: c4a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.64 C4A Ain Roesley Marked gene: C4A as ready
Complement Deficiencies v0.64 C4A Ain Roesley Gene: c4a has been classified as Green List (High Evidence).
Regression v0.434 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed rating: AMBER
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Complement Deficiencies v0.64 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 v0.11668 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
Complement Deficiencies v0.64 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to Other
Complement Deficiencies v0.63 C4B Ain Roesley Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Complement Deficiencies v0.63 C4B Ain Roesley Publications for gene: C4B were set to
Complement Deficiencies v0.63 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Unknown to Other
Complement Deficiencies v0.63 C4B Ain Roesley Marked gene: C4B as ready
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.63 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Complement Deficiencies v0.63 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Complement Deficiencies v0.62 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 C4B alone leads to partial deficiency
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
Callosome v0.394 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Callosome v0.394 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Callosome v0.394 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Callosome v0.393 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Callosome v0.392 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: RED; 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 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
Fetal anomalies v1.11 NDUFS4 Krithika Murali Deleted their review
Fetal anomalies v1.11 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Complement Deficiencies v0.62 C9 Ain Roesley Marked gene: C9 as ready
Complement Deficiencies v0.62 C9 Ain Roesley Gene: c9 has been classified as Green List (High Evidence).
Mendeliome v0.11664 C9 Ain Roesley Publications for gene: C9 were set to
Complement Deficiencies v0.62 C9 Ain Roesley Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Complement Deficiencies v0.61 C9 Ain Roesley Publications for gene: C9 were set to
Complement Deficiencies v0.60 C9 Ain Roesley Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.59 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 v0.11663 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).
Complement Deficiencies v0.59 C8B Ain Roesley Marked gene: C8B as ready
Complement Deficiencies v0.59 C8B Ain Roesley Gene: c8b has been classified as Green List (High Evidence).
Complement Deficiencies v0.59 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Mendeliome v0.11662 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Fetal anomalies v1.11 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Complement Deficiencies v0.58 C8B Ain Roesley Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.266 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Mendeliome v0.11661 C8B Ain Roesley Publications for gene: C8B were set to
Stroke v1.6 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Complement Deficiencies v0.57 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
Syndromic Retinopathy v0.187 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
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
Complement Deficiencies v0.57 C7 Ain Roesley Marked gene: C7 as ready
Complement Deficiencies v0.57 C7 Ain Roesley Gene: c7 has been classified as Green List (High Evidence).
Mendeliome v0.11658 C7 Ain Roesley Publications for gene: C7 were set to
Complement Deficiencies v0.57 C7 Ain Roesley Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to 22206826; 20591074; 17407100; 16771861; 16552475
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to
Complement Deficiencies v0.55 C7 Ain Roesley Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Complement Deficiencies v0.54 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
Complement Deficiencies v0.54 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Mendeliome v0.11655 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to
Mendeliome v0.11654 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown 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).
Complement Deficiencies v0.52 C6 Ain Roesley Marked gene: C6 as ready
Complement Deficiencies v0.52 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
Complement Deficiencies v0.52 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
Callosome v0.391 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: RED; 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
Mitochondrial disease v0.733 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
Regression v0.433 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
Optic Atrophy v1.5 NDUFS3 Krithika Murali gene: NDUFS3 was added
gene: NDUFS3 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS3 were set to 22499348; 30140060; 14729820; 33097395
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Review for gene: NDUFS3 was set to AMBER
Added comment: 4 unrelated families reported with supportive functional evidence. Leigh-syndrome phenotype reported with features suggestive of optic atrophy described in one patient.

--

PMID 22499348 - report one individual with homozygous variants and developmental delay, muscular hypotonia, lactic acidosis, rapid progression of disease.

PMID 30140060 - report one individual with compound het variants and Leigh-syndrome phenotype. MRI-B showed a high T2 signal intensity in the white matter of hemispheres, basal ganglia and brain stem with progressive changes. Patient deceased age 2.

PMID 14729820 - report one individual with compound het variant and affected foetus. The proband presented at the age of 9 with persistent stiff neck. MRI-B age 10 detected high T2 signal intensity in the putamen, white matter and brainstem. Also had features of optic nerve atrophy and later developed acute pancreatitis, severe respiratory insufficiency and died age 13 after rapid multisystem deterioration.

PMID 33097395 - report one adult patient with compound-het variants and Leigh Syndrome features
Sources: Literature
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
Complement Deficiencies v0.52 C5 Ain Roesley Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536
Complement Deficiencies v0.51 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11651 C5 Ain Roesley Publications for gene: C5 were set to
Complement Deficiencies v0.51 C5 Ain Roesley Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790
Complement Deficiencies v0.50 C5 Ain Roesley Publications for gene: C5 were set to
Complement Deficiencies v0.50 C5 Ain Roesley Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.50 C5 Ain Roesley Mode of pathogenicity for gene: C5 was changed from to None
Mendeliome v0.11650 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.49 C5 Ain Roesley Marked gene: C5 as ready
Complement Deficiencies v0.49 C5 Ain Roesley Gene: c5 has been classified as Green List (High Evidence).
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
Complement Deficiencies v0.49 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
Complement Deficiencies v0.49 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
Mitochondrial disease v0.733 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
Callosome v0.391 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: RED; 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
Regression v0.433 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
Optic Atrophy v1.5 NDUFS2 Krithika Murali gene: NDUFS2 was added
gene: NDUFS2 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 28031252; 31411514; 22036843; 20819849; 11220739; 23266820; 31411514
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Review for gene: NDUFS2 was set to GREEN
Added comment: PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.

PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.

PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.

PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy

PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.
Sources: Literature
Complement Deficiencies v0.49 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379; Mode of inheritance: Other; Current diagnostic: yes
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
Mitochondrial disease v0.733 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
Regression v0.433 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 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
Callosome v0.391 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20382551, 21203893; 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
Complement Deficiencies v0.49 C3 Ain Roesley Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779
Complement Deficiencies v0.49 C3 Ain Roesley Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111
Complement Deficiencies v0.48 C3 Ain Roesley Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779
Complement Deficiencies v0.48 C3 Ain Roesley Publications for gene: C3 were set to
Complement Deficiencies v0.48 C3 Ain Roesley Mode of pathogenicity for gene: C3 was changed from to None
Complement Deficiencies v0.48 C3 Ain Roesley Marked gene: C3 as ready
Complement Deficiencies v0.48 C3 Ain Roesley Gene: c3 has been classified as Green List (High Evidence).
Complement Deficiencies v0.48 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Complement Deficiencies v0.47 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 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
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA4 from the panel
Mendeliome v0.11644 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA2 from the panel
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).
Autism v0.175 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Autism v0.175 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Autism v0.174 SLC9A9 Zornitza Stark changed review comment from: Several families and animal model data.
Sources: Expert list; to: DISPUTED by ClinGen:

SLC9A9 was first reported in relation to autism spectrum disorder in 2008 (Morrow et al., 2008 PMID: 18621663). A homozygous deletion upstream of SLC9A9 (also known as NHE9) as well as several heterozygous variants (one nonsense and several missense) were reported in this gene; the sequence variants were later found to have high population frequencies in gnomAD.

According to gnomAD (v.2.1.1), SLC9A9 is not constrained for loss of function variants (pLI=0) or missense variants (z-score=-0.25).

Previously, a pericentric inversion of chromosome 3 disrupting SLC9A9 was reported in an extended pedigree with intellectual disability and behavioral problems (PMID: 14569117). The other inversion breakpoint affected DOCK3, a brain-expressed gene involved in neurodevelopmental disorders, and the inversion did not always segregate with the phenotype, therefore this family was not scored. An inherited exonic deletion of SLC9A9 is reported in an individual with autism spectrum disorder and epilepsy (PMID: 27123481). Two nonsense variants in individuals with autism spectrum disorder, including one reported several times in gnomAD are reported in PMID: 26185613.

Overall, variants are inherited and/or at high pop frequency, not consistent with Mendelian disease.
Autism v0.174 SLC9A9 Zornitza Stark edited their review of gene: SLC9A9: Changed rating: RED
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
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Hypophosphataemia or rickets v0.33 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Hypophosphataemia or rickets v0.32 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.31 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20016754, 20137773, 20137772; Phenotypes: Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Marked gene: VPS35 as ready
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Gene: vps35 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203
Early-onset Parkinson disease v0.122 VPS35 Zornitza Stark Publications for gene: VPS35 were set to
Early-onset Parkinson disease v0.121 VPS35 Zornitza Stark Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.120 VPS35 Zornitza Stark reviewed gene: VPS35: Rating: GREEN; 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 v0.11597 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).
Corneal Dystrophy v1.7 VSX1 Zornitza Stark Publications for gene: VSX1 were set to
Corneal Dystrophy v1.6 VSX1 Zornitza Stark Classified gene: VSX1 as Amber List (moderate evidence)
Corneal Dystrophy v1.6 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
Corneal Dystrophy v1.5 VSX1 Zornitza Stark changed review comment from: Keratoconus is a corneal dystrophy.; to: Keratoconus is a corneal dystrophy. Some of the variants reported have a high population frequency, more consistent with a risk allele rather than a Mendelian gene-disease association.
Corneal Dystrophy v1.5 VSX1 Zornitza Stark edited their review of gene: VSX1: Changed rating: AMBER; Changed publications: 11978762, 35296157, 30574758, 30535423, 25963163
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
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.331 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.330 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Arthrogryposis v0.329 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.328 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 v0.11586 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
Regression v0.433 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Regression v0.433 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.433 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, MIM# 108600
Regression v0.432 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Regression v0.431 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.430 VAMP1 Zornitza Stark Classified gene: VAMP1 as Red List (low evidence)
Regression v0.430 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.429 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; 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
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mitochondrial disease v0.732 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.731 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
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.126 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.429 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Regression v0.429 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Regression v0.429 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Regression v0.428 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Regression v0.427 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.426 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Regression v0.426 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Callosome v0.391 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Callosome v0.391 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Callosome v0.391 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Callosome v0.390 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Callosome v0.389 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.388 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Red List (low evidence)
Callosome v0.388 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mitochondrial disease v0.729 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mitochondrial disease v0.728 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 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
Regression v0.425 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Regression v0.425 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Regression v0.425 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Regression v0.424 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Regression v0.423 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.387 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Callosome v0.387 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Callosome v0.387 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Callosome v0.386 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Callosome v0.385 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Callosome v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Desmosomal disorders v0.21 EDARADD Bryony Thompson Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Desmosomal disorders v0.20 EDARADD Bryony Thompson Publications for gene: EDARADD were set to
Desmosomal disorders v0.19 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
Desmosomal disorders v0.18 EDAR Bryony Thompson Marked gene: EDAR as ready
Desmosomal disorders v0.18 EDAR Bryony Thompson Gene: edar has been classified as Green List (High Evidence).
Desmosomal disorders v0.18 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
Desmosomal disorders v0.17 EDAR Bryony Thompson Publications for gene: EDAR were set to 10431241; 20301291; 16435307; 20979233; 23401279; 18384562
Desmosomal disorders v0.17 EDAR Bryony Thompson Publications for gene: EDAR were set to
Desmosomal disorders v0.16 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
Desmosomal disorders v0.15 EDA Bryony Thompson Marked gene: EDA as ready
Desmosomal disorders v0.15 EDA Bryony Thompson Gene: eda has been classified as Green List (High Evidence).
Desmosomal disorders v0.15 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
Desmosomal disorders v0.14 EDA Bryony Thompson Publications for gene: EDA were set to
Desmosomal disorders v0.13 EDA Bryony Thompson Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Desmosomal disorders v0.12 DSG1 Bryony Thompson Marked gene: DSG1 as ready
Desmosomal disorders v0.12 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Desmosomal disorders v0.12 DSG1 Bryony Thompson Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Desmosomal disorders v0.11 DSG1 Bryony Thompson Publications for gene: DSG1 were set to
Desmosomal disorders v0.10 DSG1 Bryony Thompson Mode of inheritance for gene: DSG1 was changed from Unknown to BOTH monoallelic and 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
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mitochondrial disease v0.726 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mitochondrial disease v0.725 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.246 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Leukodystrophy v0.246 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.246 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Leukodystrophy v0.245 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy to Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy
Regression v0.422 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Regression v0.422 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Regression v0.422 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Regression v0.421 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Regression v0.420 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.383 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Callosome v0.383 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Callosome v0.383 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Callosome v0.382 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Callosome v0.381 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mitochondrial disease v0.723 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mitochondrial disease v0.722 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1492 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.1491 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Genetic Epilepsy v0.1491 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 28857146; 18513682
Microcephaly v1.117 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Microcephaly v1.117 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.117 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Microcephaly v1.117 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
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
Mitochondrial disease v0.721 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
Regression v0.419 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with recurrent decompensation episodes.

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. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic; to: 3 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with fulminant neonatal course / longer-term survivors having recurrent decompensation episodes.

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. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Regression v0.419 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF4 Krithika Murali changed review comment from: Brain anomalies noted but not involving corpus callosum.

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; to: Brain anomalies noted but not involving corpus callosum.

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. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali changed review comment from: 2 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; to: 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. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
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
Callosome v0.380 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: RED; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 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 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
Regression v0.419 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
Callosome v0.380 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: AMBER; 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
Mitochondrial disease v0.721 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
Mitochondrial disease v0.721 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
Microcephaly v1.116 NDUFA2 Krithika Murali gene: NDUFA2 was added
gene: NDUFA2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 28857146; 32154054; 18513682
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Review for gene: NDUFA2 was set to AMBER
Added comment: 4 unrelated patients reported in the published literature. 2 reported to have postnatal-onset microcephaly.

PMID 28857146 - report 2 unrelated patients with cystic leukoencephalopathy.

Patient 1 - born at term, unremarkable antenatal history. Presented at 8 months with encephalopathy, hepatomegaly, hyperammonemia. Exhibited developmental regression until 12 months of age and also had moderate ID, dystonia, spasticity and focal epilepsy. Initially had homozygous SLC22A5 variant associated with primary carnitine deficiency. MRI-B age 2 showed white matter + cystic changes and corpus callosum anomalies. Complex 1 deficiency suspected based on white matter anomalies. Patient-derived fibroblasts showed decrease in complex 1 enzyme activity. WES identified homozygous NDUFA2 variant with parental testing confirming carrier status.

Patient 2 - compound het NDUFA2 variants. Phenotypic features include - failure to thrive, developmental regression, upper motor neuron signs, white matter abnormalities + cystic changes on MRI-Brain, severe GDD and microcephaly.

PMID: 32154054 - report a patient with developmental regression and postnatal onset progressive microcephaly. Other features included UMN signs, spastic equinovarus deformity of the feet. At age 4 developed generalised seizures in context of VZV infection. Abnormal MRI-B including white matter changes, bilateral cavitating lesions and corpus callosum anomalies. Homozygous NDUFA2 variant identified.

PMID: 18513682 - report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Normal antenatal course reported - D5 of life diagnosed with hypertrophic cardiomyopathy was diagnosed. Other phenotypic features included developmental delay, regression, MRI anomalies (cerebral atrophy, hypoplasia corpus callosum), seizures.
Sources: Literature
Regression v0.419 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
Callosome v0.380 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
Genetic Epilepsy v0.1490 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: AMBER; 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 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
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Marked gene: IL12B as ready
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Gene: il12b has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.106 IL12B Zornitza Stark Phenotypes for gene: IL12B were changed from to Immunodeficiency 29, mycobacteriosis, MIM# 614890
Defects of intrinsic and innate immunity v0.105 IL12B Zornitza Stark Publications for gene: IL12B were set to
Defects of intrinsic and innate immunity v0.104 IL12B Zornitza Stark Mode of inheritance for gene: IL12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.103 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 v0.11529 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
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.78 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Inflammatory bowel disease v0.77 IL10RB Zornitza Stark Publications for gene: IL10RB were set to
Inflammatory bowel disease v0.76 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.75 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 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
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.75 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Inflammatory bowel disease v0.74 IL10RA Zornitza Stark Publications for gene: IL10RA were set to
Inflammatory bowel disease v0.73 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.72 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 v0.11526 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
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Marked gene: IL10 as ready
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Classified gene: IL10 as Green List (high evidence)
Inflammatory bowel disease v0.72 IL10 Zornitza Stark Gene: il10 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.71 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10 were set to 22236434; 20951137; 19890111
Phenotypes for gene: IL10 were set to Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease
Review for gene: IL10 was set to GREEN
Added comment: At least two families and a mouse model.
Sources: Expert Review
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
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Marked gene: IGLL1 as ready
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Gene: igll1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.105 IGLL1 Zornitza Stark Phenotypes for gene: IGLL1 were changed from to Agammaglobulinaemia 2, MIM# 613500
Predominantly Antibody Deficiency v0.104 IGLL1 Zornitza Stark Publications for gene: IGLL1 were set to
Predominantly Antibody Deficiency v0.103 IGLL1 Zornitza Stark Mode of inheritance for gene: IGLL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.102 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 v0.11520 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
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Marked gene: CCDC134 as ready
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Phenotypes for gene: CCDC134 were changed from to Osteogenesis imperfecta, type XXII, MIM#619795
Osteogenesis Imperfecta and Osteoporosis v0.73 CCDC134 Zornitza Stark Classified gene: CCDC134 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.73 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
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
Osteogenesis Imperfecta and Osteoporosis v0.72 CCDC134 Zornitza Stark edited their review of gene: CCDC134: Changed phenotypes: Osteogenesis imperfecta, type XXII, MIM#619795
Osteogenesis Imperfecta and Osteoporosis v0.72 CCDC134 Zornitza Stark gene: CCDC134 was added
gene: CCDC134 was added to Osteogenesis Imperfecta. 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
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
Red cell disorders v1.15 RACGAP1 Zornitza Stark Marked gene: RACGAP1 as ready
Red cell disorders v1.15 RACGAP1 Zornitza Stark Gene: racgap1 has been classified as Red List (Low Evidence).
Red cell disorders v1.15 RACGAP1 Zornitza Stark gene: RACGAP1 was added
gene: RACGAP1 was added to Red cell disorders. Sources: Expert list
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 list
Red cell disorders v1.14 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia type III to Anaemia, congenital dyserythropoietic, type IIIA 105600
Red cell disorders v1.13 KIF23 Zornitza Stark Publications for gene: KIF23 were set to 23570799
Red cell disorders v1.12 KIF23 Zornitza Stark Classified gene: KIF23 as Amber List (moderate evidence)
Red cell disorders v1.12 KIF23 Zornitza Stark Gene: kif23 has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.11 KIF23 Zornitza Stark edited their review of gene: KIF23: Added comment: Second individual reported, elongation variant.; Changed rating: AMBER; Changed phenotypes: Anaemia, congenital dyserythropoietic, type IIIA 105600
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
Bone Marrow Failure v1.13 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Anaemia, congenital dyserythropoietic, type IIIA 105600 to Anaemia, congenital dyserythropoietic, type IIIA 105600
Bone Marrow Failure v1.12 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia type III to Anaemia, congenital dyserythropoietic, type IIIA 105600
Bone Marrow Failure v1.12 KIF23 Zornitza Stark Publications for gene: KIF23 were set to 23570799
Bone Marrow Failure v1.11 KIF23 Zornitza Stark Classified gene: KIF23 as Amber List (moderate evidence)
Bone Marrow Failure v1.11 KIF23 Zornitza Stark Gene: kif23 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.10 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
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.103 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from to Immunodeficiency 30, MIM# 614891
Defects of intrinsic and innate immunity v0.102 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Defects of intrinsic and innate immunity v0.101 IL12RB1 Zornitza Stark Mode of inheritance for gene: IL12RB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.100 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 v0.11508 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
Regression v0.419 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Regression v0.419 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Regression v0.419 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Regression v0.418 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Regression v0.417 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.416 NDUFAF2 Zornitza Stark 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
Genetic Epilepsy v0.1490 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Genetic Epilepsy v0.1490 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1490 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Genetic Epilepsy v0.1489 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Genetic Epilepsy v0.1488 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1487 NDUFAF2 Zornitza Stark 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
Callosome v0.380 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Callosome v0.380 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Callosome v0.380 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Callosome v0.379 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Callosome v0.378 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.377 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Callosome v0.377 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Callosome v0.376 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: RED; 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
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Mitochondrial disease v0.720 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Mitochondrial disease v0.719 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.718 NDUFAF2 Zornitza Stark 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 v0.11503 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
Callosome v0.376 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Callosome v0.376 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Red List (Low Evidence).
Callosome v0.376 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Callosome v0.375 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Callosome v0.374 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.373 NDUFAF1 Zornitza Stark Classified gene: NDUFAF1 as Red List (low evidence)
Callosome v0.373 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Red List (Low Evidence).
Callosome v0.372 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: RED; 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
Regression v0.416 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Regression v0.416 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).
Regression v0.416 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Regression v0.415 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Regression v0.414 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.413 NDUFAF1 Zornitza Stark Classified gene: NDUFAF1 as Amber List (moderate evidence)
Regression v0.413 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).
Regression v0.412 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: AMBER; 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
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.717 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Mitochondrial disease v0.716 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Zornitza Stark 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 v0.11500 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
Callosome v0.372 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Callosome v0.372 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Red List (Low Evidence).
Callosome v0.372 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247
Callosome v0.371 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Callosome v0.370 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.369 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Red List (low evidence)
Callosome v0.369 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Red List (Low Evidence).
Callosome v0.368 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: RED; 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
Regression v0.412 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Regression v0.412 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Regression v0.412 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247
Regression v0.411 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Regression v0.410 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.409 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Amber List (moderate evidence)
Regression v0.409 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Regression v0.408 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: AMBER; 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 v0.11497 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
Regression v0.408 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1487 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Regression v0.408 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; 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
Callosome v0.368 NDUFA9 Krithika Murali reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.408 NDUFA9 Krithika Murali reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; 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
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Marked gene: IL1RN as ready
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Phenotypes for gene: IL1RN were changed from to Interleukin 1 receptor antagonist deficiency, MIM# 612852
Autoinflammatory Disorders v0.133 IL1RN Zornitza Stark Publications for gene: IL1RN were set to
Autoinflammatory Disorders v0.132 IL1RN Zornitza Stark Mode of inheritance for gene: IL1RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.131 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 v0.11480 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
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Marked gene: ISG15 as ready
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Gene: isg15 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.100 ISG15 Zornitza Stark Phenotypes for gene: ISG15 were changed from to Immunodeficiency 38, MIM# 616126
Defects of intrinsic and innate immunity v0.99 ISG15 Zornitza Stark Publications for gene: ISG15 were set to
Defects of intrinsic and innate immunity v0.98 ISG15 Zornitza Stark Mode of inheritance for gene: ISG15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.97 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 v0.11474 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
Defects of intrinsic and innate immunity v0.97 IRF8 Zornitza Stark Marked gene: IRF8 as ready
Defects of intrinsic and innate immunity v0.97 IRF8 Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.97 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
Defects of intrinsic and innate immunity v0.96 IRF8 Zornitza Stark Publications for gene: IRF8 were set to
Defects of intrinsic and innate immunity v0.95 IRF8 Zornitza Stark Mode of inheritance for gene: IRF8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.94 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 v0.11466 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
Regression v0.408 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.408 IREB2 Zornitza Stark Classified gene: IREB2 as Green List (high evidence)
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.407 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Expert Review
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
Callosome v0.368 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Callosome v0.368 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Callosome v0.368 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Callosome v0.367 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Callosome v0.366 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.365 NDUFA10 Zornitza Stark Classified gene: NDUFA10 as Red List (low evidence)
Callosome v0.365 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Callosome v0.364 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: RED; 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
Regression v0.406 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Regression v0.406 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Regression v0.406 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Regression v0.405 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Regression v0.404 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.403 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
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.714 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.713 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Mitochondrial disease v0.712 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 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 v0.11460 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
Genetic Epilepsy v0.1487 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Genetic Epilepsy v0.1487 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1487 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Genetic Epilepsy v0.1486 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Genetic Epilepsy v0.1485 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1484 NDUFA10 Zornitza Stark Classified gene: NDUFA10 as Red List (low evidence)
Genetic Epilepsy v0.1484 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1483 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: RED; 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
Intellectual disability syndromic and non-syndromic v0.4575 NDST1 Zornitza Stark Marked gene: NDST1 as ready
Intellectual disability syndromic and non-syndromic v0.4575 NDST1 Zornitza Stark Gene: ndst1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4575 NDST1 Zornitza Stark Phenotypes for gene: NDST1 were changed from to Mental retardation, autosomal recessive 46 - MIM#616116
Intellectual disability syndromic and non-syndromic v0.4574 NDST1 Zornitza Stark Publications for gene: NDST1 were set to
Intellectual disability syndromic and non-syndromic v0.4573 NDST1 Zornitza Stark Mode of inheritance for gene: NDST1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1483 NDST1 Zornitza Stark Marked gene: NDST1 as ready
Genetic Epilepsy v0.1483 NDST1 Zornitza Stark Gene: ndst1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1483 NDST1 Zornitza Stark Classified gene: NDST1 as Green List (high evidence)
Genetic Epilepsy v0.1483 NDST1 Zornitza Stark Gene: ndst1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1482 NDST1 Zornitza Stark Classified gene: NDST1 as Green List (high evidence)
Genetic Epilepsy v0.1482 NDST1 Zornitza Stark Gene: ndst1 has been classified as Green List (High Evidence).
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
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.70 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Inflammatory bowel disease v0.69 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Inflammatory bowel disease v0.68 NCF2 Zornitza Stark Mode of inheritance for gene: NCF2 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
Amelogenesis imperfecta v1.3 DSPP Zornitza Stark Marked gene: DSPP as ready
Amelogenesis imperfecta v1.3 DSPP Zornitza Stark Gene: dspp has been classified as Green List (High Evidence).
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
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.94 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from to Immunodeficiency 67, MIM# 607676
Defects of intrinsic and innate immunity v0.93 IRAK4 Zornitza Stark Publications for gene: IRAK4 were set to
Defects of intrinsic and innate immunity v0.92 IRAK4 Zornitza Stark Mode of inheritance for gene: IRAK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.91 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 v0.11439 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
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Marked gene: INO80 as ready
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.102 INO80 Zornitza Stark Phenotypes for gene: INO80 were changed from to Primary immunodeficiency, MONDO:0003778
Predominantly Antibody Deficiency v0.101 INO80 Zornitza Stark Publications for gene: INO80 were set to
Predominantly Antibody Deficiency v0.100 INO80 Zornitza Stark Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.99 INO80 Zornitza Stark Classified gene: INO80 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.99 INO80 Zornitza Stark Gene: ino80 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.98 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 v0.11430 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.
Autism v0.174 ILF2 Zornitza Stark Marked gene: ILF2 as ready
Autism v0.174 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.174 ILF2 Zornitza Stark Phenotypes for gene: ILF2 were changed from to Autism
Autism v0.173 ILF2 Zornitza Stark Publications for gene: ILF2 were set to
Mendeliome v0.11423 ILF2 Zornitza Stark edited their review of gene: ILF2: Changed publications: 26402605; Changed phenotypes: Autism
Autism v0.172 ILF2 Zornitza Stark Classified gene: ILF2 as Red List (low evidence)
Autism v0.172 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.171 ILF2 Zornitza Stark Classified gene: ILF2 as Red List (low evidence)
Autism v0.171 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.170 ILF2 Zornitza Stark reviewed gene: ILF2: Rating: RED; Mode of pathogenicity: None; Publications: 26402605; Phenotypes: Autism; Mode of inheritance: None
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
Mitochondrial disease v0.711 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
Regression v0.403 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
Genetic Epilepsy v0.1481 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 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
Intellectual disability syndromic and non-syndromic v0.4572 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
Genetic Epilepsy v0.1481 NDST1 Krithika Murali gene: NDST1 was added
gene: NDST1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDST1 were set to 25125150; 21937992; 32878022; 28211985
Phenotypes for gene: NDST1 were set to Mental retardation, autosomal recessive 46 - MIM#616116
Review for gene: NDST1 was set to GREEN
Added comment: At least 8 unrelated families reported. Biallelic NDST1 variants associated with intellectual disability, muscular hypotonia, epilepsy (feature noted in majority of published individuals, onset in infancy/childhood), and postnatal growth deficiency
Sources: Literature
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
Inflammatory bowel disease v0.67 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 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
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.91 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889
Defects of intrinsic and innate immunity v0.90 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Defects of intrinsic and innate immunity v0.89 IFNGR2 Zornitza Stark Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.88 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 v0.11422 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
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.88 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from to Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950; Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Defects of intrinsic and innate immunity v0.87 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Defects of intrinsic and innate immunity v0.86 IFNGR1 Zornitza Stark Mode of inheritance for gene: IFNGR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.85 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 v0.11419 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
Amelogenesis imperfecta v1.3 DSPP Chirag Patel Classified gene: DSPP as Green List (high evidence)
Amelogenesis imperfecta v1.3 DSPP Chirag Patel Gene: dspp has been classified as Green List (High Evidence).
Amelogenesis imperfecta v1.2 DSPP Chirag Patel gene: DSPP was added
gene: DSPP was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSPP were set to PMID: 18456718, 11175779
Phenotypes for gene: DSPP were set to Dentinogenesis imperfecta, Shields type II, OMIM #125490
Review for gene: DSPP was set to GREEN
Added comment: Dentinogenesis imperfecta presents with blue-gray/amber brown and opalescent teeth, bulbous crowns, narrow roots, small/obliterated pulp chambers and root canals, and split enamel. Heterozygous mutations in DSPP gene identified in 5 families. Dspp knockout mice developed tooth defects similar to those of human DGI-III, including enlarged pulp chambers, increased width of predentin zone, hypomineralization, and pulp exposure
Sources: Literature
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
Hydrops fetalis v0.221 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Hydrops fetalis v0.221 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.221 MAPK1 Zornitza Stark reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 13 MIM#619087; Mode of inheritance: None
Macrocephaly_Megalencephaly v0.103 TET3 Zornitza Stark Marked gene: TET3 as ready
Macrocephaly_Megalencephaly v0.103 TET3 Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.103 TET3 Zornitza Stark Classified gene: TET3 as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.103 TET3 Zornitza Stark Gene: tet3 has been classified as Amber List (Moderate Evidence).
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
Complement Deficiencies v0.47 C1S Ain Roesley Phenotypes for gene: C1S were changed from to C1s deficiency MIM#613783
Complement Deficiencies v0.47 C1S Ain Roesley Publications for gene: C1S were set to
Complement Deficiencies v0.47 C1S Ain Roesley Mode of inheritance for gene: C1S was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.46 C1S Ain Roesley Marked gene: C1S as ready
Complement Deficiencies v0.46 C1S Ain Roesley Gene: c1s has been classified as Green List (High Evidence).
Complement Deficiencies v0.46 C1S Ain Roesley reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 19155518, 20191570, 18062908, 11390518, 9856483; Phenotypes: C1s deficiency MIM#613783; 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
Aortopathy_Connective Tissue Disorders v1.66 C1S Ain Roesley Publications for gene: C1S were set to 30071989; 27745832; 31921203; 28306229
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).
Aortopathy_Connective Tissue Disorders v1.66 C1S Ain Roesley edited their review of gene: C1S: Changed rating: GREEN; Changed publications: 30071989, 27745832, 31921203, 28306229; Changed phenotypes: Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174; Set current diagnostic: yes
Aortopathy_Connective Tissue Disorders v1.66 C1S Ain Roesley Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
Aortopathy_Connective Tissue Disorders v1.65 C1S Ain Roesley Classified gene: C1S as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.65 C1S Ain Roesley Gene: c1s 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
Intellectual disability syndromic and non-syndromic v0.4572 ITCH Zornitza Stark Publications for gene: ITCH were set to 20170897
Mendeliome v0.11378 ITCH Zornitza Stark Tag founder tag was added to gene: ITCH.
Intellectual disability syndromic and non-syndromic v0.4571 ITCH Zornitza Stark edited their review of gene: ITCH: Added comment: Unrelated individual reported in PMID 31091003 had normal intellect.; Changed publications: 20170897, 31091003
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).
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Gene: itga7 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.99 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Muscular dystrophy and myopathy_Paediatric v0.98 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Muscular dystrophy and myopathy_Paediatric v0.97 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.96 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 v0.11377 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
Intellectual disability syndromic and non-syndromic v0.4571 ITPA Zornitza Stark Marked gene: ITPA as ready
Intellectual disability syndromic and non-syndromic v0.4571 ITPA Zornitza Stark Gene: itpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4571 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Developmental and epileptic encephalopathy 35, MIM# 616647
Intellectual disability syndromic and non-syndromic v0.4570 ITPA Zornitza Stark Publications for gene: ITPA were set to
Intellectual disability syndromic and non-syndromic v0.4569 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4568 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 v0.11374 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
Complement Deficiencies v0.46 C1QC Ain Roesley edited their review of gene: C1QC: Changed publications: 21654842, 8630118, 24157463
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
Complement Deficiencies v0.46 C1QC Ain Roesley Marked gene: C1QC as ready
Complement Deficiencies v0.46 C1QC Ain Roesley Gene: c1qc has been classified as Green List (High Evidence).
Complement Deficiencies v0.46 C1QC Ain Roesley Publications for gene: C1QC were set to
Complement Deficiencies v0.45 C1QC Ain Roesley Phenotypes for gene: C1QC were changed from to C1q deficiency MIM#613652
Complement Deficiencies v0.45 C1QC Ain Roesley Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.44 C1QC Ain Roesley reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630118; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11370 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.4 IVD Zornitza Stark Marked gene: IVD as ready
Hyperammonaemia v0.4 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Hyperammonaemia v0.4 IVD Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia 243500 to Isovaleric acidaemia, MIM# 243500
Hyperammonaemia v0.3 IVD Zornitza Stark Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913
Hyperammonaemia v0.2 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 v0.11369 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
Hydrocephalus_Ventriculomegaly v0.112 C12orf57 Ain Roesley Marked gene: C12orf57 as ready
Hydrocephalus_Ventriculomegaly v0.112 C12orf57 Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.4568 C12orf57 Ain Roesley Marked gene: C12orf57 as ready
Intellectual disability syndromic and non-syndromic v0.4568 C12orf57 Ain Roesley Gene: c12orf57 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).
Intellectual disability syndromic and non-syndromic v0.4568 C12orf4 Ain Roesley Marked gene: C12orf4 as ready
Intellectual disability syndromic and non-syndromic v0.4568 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).
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Marked gene: C1GALT1C1 as ready
Red cell disorders v1.11 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
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Classified gene: C1GALT1C1 as Green List (high evidence)
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Red cell disorders v1.9 C1GALT1C1 Ain Roesley gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Red cell disorders. Sources: Literature
somatic tags were added to gene: C1GALT1C1.
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 18537974; 16251947
Review for gene: C1GALT1C1 was set to GREEN
gene: C1GALT1C1 was marked as current diagnostic
Added comment: Previously known as COSMC
>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture
Sources: Literature
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
Fetal anomalies v1.11 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Fetal anomalies v1.11 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Fetal anomalies v1.11 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder, SCAF4-related MONDO#0700092 to Neurodevelopmental disorder MONDO#0700092, SCAF4-related
Fetal anomalies v1.10 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Fetal anomalies v1.10 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4568 C12orf57 Ain Roesley Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Intellectual disability syndromic and non-syndromic v0.4568 C12orf57 Ain Roesley Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4568 C12orf57 Ain Roesley Publications for gene: C12orf57 were set to
Intellectual disability syndromic and non-syndromic v0.4567 C12orf57 Ain Roesley reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: None; Current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.112 C12orf57 Ain Roesley Classified gene: C12orf57 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.112 C12orf57 Ain Roesley Gene: c12orf57 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.111 C12orf57 Ain Roesley gene: C12orf57 was added
gene: C12orf57 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 29383837; 31853307
Phenotypes for gene: C12orf57 were set to Temtamy syndrome MIM#218340
Penetrance for gene: C12orf57 were set to Complete
Review for gene: C12orf57 was set to GREEN
gene: C12orf57 was marked as current diagnostic
Added comment: 17/50 individuals reported with ventriculomegaly
Sources: Literature
Hydrops fetalis v0.221 MAPK1 Elena Savva Classified gene: MAPK1 as Amber List (moderate evidence)
Hydrops fetalis v0.221 MAPK1 Elena Savva Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.221 MAPK1 Elena Savva Classified gene: MAPK1 as Amber List (moderate evidence)
Hydrops fetalis v0.221 MAPK1 Elena Savva Gene: mapk1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.220 MAPK1 Elena Savva gene: MAPK1 was added
gene: MAPK1 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to PMID: 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13 MIM#619087
Review for gene: MAPK1 was set to GREEN
Added comment: PMID: 32721402 - GOF de novo missense variants reported in Noonan patients. Patients showed DD, ID, craniofacial abnormalities and CHD

Supported by K/I mouse model
Sources: Literature
Fetal anomalies v1.9 SCAF4 Lucy Spencer gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to PMID: 32730804
Phenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092
Review for gene: SCAF4 was set to GREEN
Added comment: PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies.
Sources: Literature
Macrocephaly_Megalencephaly v0.102 TET3 Elena Savva changed review comment from: PMID: 31928709 - 11 cases in 8 families.
3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly.
Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease

However 2/11 patients (siblings) had microcephaly
Sources: Literature; to: PMID: 31928709 - 11 cases in 8 families.
3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly.
Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease

However 2/11 patients (siblings) had microcephaly
Sources: Literature
Macrocephaly_Megalencephaly v0.102 TET3 Elena Savva gene: TET3 was added
gene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TET3 were set to PMID: 31928709
Phenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798
Review for gene: TET3 was set to AMBER
Added comment: PMID: 31928709 - 11 cases in 8 families.
3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly.
Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease

However 2/11 patients (siblings) had microcephaly
Sources: Literature
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
Intellectual disability syndromic and non-syndromic v0.4567 C12orf4 Ain Roesley Phenotypes for gene: C12orf4 were changed from to Intellectual developmental disorder, autosomal recessive 66 MIM#618221
Intellectual disability syndromic and non-syndromic v0.4566 C12orf4 Ain Roesley Publications for gene: C12orf4 were set to 34967075; 31334606; 27311568; 25558065; 28097321
Intellectual disability syndromic and non-syndromic v0.4566 C12orf4 Ain Roesley Publications for gene: C12orf4 were set to 34967075; 31334606; 27311568; 25558065; 28097321
Mendeliome v0.11358 C12orf4 Ain Roesley Phenotypes for gene: C12orf4 were changed from to Intellectual developmental disorder, autosomal recessive 66 MIM#618221
Intellectual disability syndromic and non-syndromic v0.4565 C12orf4 Ain Roesley Publications for gene: C12orf4 were set to
Intellectual disability syndromic and non-syndromic v0.4565 C12orf4 Ain Roesley Mode of pathogenicity for gene: C12orf4 was changed from to None
Intellectual disability syndromic and non-syndromic v0.4564 C12orf4 Ain Roesley Mode of inheritance for gene: C12orf4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4563 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 v0.11357 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).
Autism v0.170 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Amber List (moderate evidence)
Autism v0.170 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Amber List (Moderate Evidence).
Autism v0.169 KATNAL2 Zornitza Stark edited their review of gene: KATNAL2: Changed rating: AMBER
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
Genetic Epilepsy v0.1481 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Genetic Epilepsy v0.1481 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1481 KCND3 Zornitza Stark Classified gene: KCND3 as Green List (high evidence)
Genetic Epilepsy v0.1481 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1480 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCND3 were set to 32823520
Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM#607346
Review for gene: KCND3 was set to GREEN
Added comment: Over 60 individuals reported with neurological disorders and variants in KCND3. Two broad clinical groups in terms of presentation: neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4563 KCND3 Zornitza Stark Publications for gene: KCND3 were set to
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).
Ataxia v0.328 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Ataxia v0.328 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Ataxia v0.328 KCND3 Zornitza Stark Classified gene: KCND3 as Green List (high evidence)
Ataxia v0.328 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Ataxia v0.327 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCND3 were set to 32823520
Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM# 607346
Review for gene: KCND3 was set to GREEN
Added comment: Variable age of symptom onset, including paediatric. Reviewed in PMID 32823520.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4562 KCND3 Zornitza Stark Classified gene: KCND3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4562 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Atrial Fibrillation v0.12 KCNE5 Zornitza Stark Marked gene: KCNE5 as ready
Atrial Fibrillation v0.12 KCNE5 Zornitza Stark Gene: kcne5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4561 KCND3 Zornitza Stark changed review comment from: Progressive neurological condition; ID only reported in some, most however reported as having normal cognition.; to: Progressive neurological condition; ID only reported in some. Recent review of all published patients, PMID 32823520 defined a group with early onset of disease, where DD/ID are the predominant presenting symptoms, with ataxia developing later.
Intellectual disability syndromic and non-syndromic v0.4561 KCND3 Zornitza Stark edited their review of gene: KCND3: Changed rating: GREEN; Changed publications: 32823520
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
Atrial Fibrillation v0.12 KCNE5 Zornitza Stark Phenotypes for gene: KCNE5 were changed from Atrial fibrillation to Atrial fibrillation
Atrial Fibrillation v0.11 KCNE5 Zornitza Stark Phenotypes for gene: KCNE5 were changed from to Atrial fibrillation
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).
Atrial Fibrillation v0.10 KCNE5 Zornitza Stark Publications for gene: KCNE5 were set to
Atrial Fibrillation v0.9 KCNE5 Zornitza Stark Mode of inheritance for gene: KCNE5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Atrial Fibrillation v0.8 KCNE5 Zornitza Stark Classified gene: KCNE5 as Red List (low evidence)
Atrial Fibrillation v0.8 KCNE5 Zornitza Stark Gene: kcne5 has been classified as Red List (Low Evidence).
Atrial Fibrillation v0.7 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 v0.11335 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).
Genetic Epilepsy v0.1479 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Genetic Epilepsy v0.1479 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High 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
Genetic Epilepsy v0.1479 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, MIM# 612780 to SESAME syndrome, MIM# 612780
Genetic Epilepsy v0.1478 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
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).
Intellectual disability syndromic and non-syndromic v0.4561 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Intellectual disability syndromic and non-syndromic v0.4561 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4561 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Genetic Epilepsy v0.1477 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Genetic Epilepsy v0.1476 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4560 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Genetic Epilepsy v0.1475 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
Intellectual disability syndromic and non-syndromic v0.4559 KCNJ10 Zornitza Stark Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11331 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Intellectual disability syndromic and non-syndromic v0.4558 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 v0.11330 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
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
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
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Classified gene: KCNK3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Classified gene: KCNK3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4558 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
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
Intellectual disability syndromic and non-syndromic v0.4557 KCNK3 Zornitza Stark gene: KCNK3 was added
gene: KCNK3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 33057194
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Review for gene: KCNK3 was set to AMBER
Added comment: Established pulmonary hypertension gene.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (7 missense, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review
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
Aortopathy_Connective Tissue Disorders v1.64 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Aortopathy_Connective Tissue Disorders v1.64 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.64 KCNMA1 Zornitza Stark Classified gene: KCNMA1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.64 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.63 KCNMA1 Zornitza Stark gene: KCNMA1 was added
gene: KCNMA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 31152168
Phenotypes for gene: KCNMA1 were set to Liang-Wang syndrome, MIM# 618729
Review for gene: KCNMA1 was set to GREEN
Added comment: Mono-allelic and bi-allelic variants in this gene are associated with a range of neurological phenotypes.

However, 8 unrelated individuals reported with de novo missense variants and a multiple malformations syndrome, which includes vascular tortuosity/ectasia and aortic aneurysm as features.
Sources: Expert list
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.103 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Paroxysmal Dyskinesia v0.102 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Paroxysmal Dyskinesia v0.101 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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).
Paroxysmal Dyskinesia v0.100 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1475 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Genetic Epilepsy v0.1475 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1475 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
Genetic Epilepsy v0.1474 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Genetic Epilepsy v0.1473 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1472 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 v0.11323 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).
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Miscellaneous Metabolic Disorders v1.11 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
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
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
Miscellaneous Metabolic Disorders v1.10 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Miscellaneous Metabolic Disorders v1.10 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4556 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Intellectual disability syndromic and non-syndromic v0.4556 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.9 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4556 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Intellectual disability syndromic and non-syndromic v0.4555 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.4555 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4554 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Microcephaly v1.116 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Microcephaly v1.116 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Microcephaly v1.116 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Microcephaly v1.115 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Genetic Epilepsy v0.1472 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Genetic Epilepsy v0.1472 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1472 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Microcephaly v1.114 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Microcephaly v1.114 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Microcephaly v1.113 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Genetic Epilepsy v0.1471 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Genetic Epilepsy v0.1471 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1470 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
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Marked gene: ECHS1 as ready
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Gene: echs1 has been classified as Green List (High Evidence).
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
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Phenotypes for gene: ECHS1 were changed from to Leigh syndrome MONDO:0009723
Mitochondrial disease v0.710 ECHS1 Bryony Thompson Publications for gene: ECHS1 were set to
Mitochondrial disease v0.709 ECHS1 Bryony Thompson Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.708 ECHS1 Bryony Thompson reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000322, 25393721, 25125611, 28409271, 29575569, 28755360, 26099313; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4554 ARHGAP35 Ain Roesley Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
Intellectual disability syndromic and non-syndromic v0.4553 ARHGAP35 Ain Roesley Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
Intellectual disability syndromic and non-syndromic v0.4552 ARHGAP35 Ain Roesley Phenotypes for gene: ARHGAP35 were changed from neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
Intellectual disability syndromic and non-syndromic v0.4552 ARHGAP35 Ain Roesley Phenotypes for gene: ARHGAP35 were changed from Developmental disorder to neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
Intellectual disability syndromic and non-syndromic v0.4551 ARHGAP35 Ain Roesley Classified gene: ARHGAP35 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4551 ARHGAP35 Ain Roesley Gene: arhgap35 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4551 ARHGAP35 Ain Roesley Classified gene: ARHGAP35 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4551 ARHGAP35 Ain Roesley Gene: arhgap35 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4550 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 v0.11304 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
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Marked gene: KCNV2 as ready
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.32 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to 30679166
Mendeliome v0.11299 KCNV2 Zornitza Stark Mode of inheritance for gene: KCNV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.31 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 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
Intellectual disability syndromic and non-syndromic v0.4550 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, MIM# 617822 to Alkuraya-Kucinskas syndrome, MIM# 617822
Intellectual disability syndromic and non-syndromic v0.4550 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Intellectual disability syndromic and non-syndromic v0.4550 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4550 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, MIM# 617822 to Alkuraya-Kucinskas syndrome, MIM# 617822
Arthrogryposis v0.328 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.327 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4550 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Arthrogryposis v0.327 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Intellectual disability syndromic and non-syndromic v0.4549 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Intellectual disability syndromic and non-syndromic v0.4548 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.326 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Intellectual disability syndromic and non-syndromic v0.4547 KIAA1109 Zornitza Stark reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.325 KIAA1109 Zornitza Stark reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome, MIM# 617822; Mode of inheritance: 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
Retinitis pigmentosa v0.109 KIZ Zornitza Stark Marked gene: KIZ as ready
Retinitis pigmentosa v0.109 KIZ Zornitza Stark Gene: kiz has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.109 KIZ Zornitza Stark Phenotypes for gene: KIZ were changed from Retinitis pigmentosa 69 to Retinitis pigmentosa 69, MIM# 615780
Retinitis pigmentosa v0.108 KIZ Zornitza Stark Publications for gene: KIZ were set to
Retinitis pigmentosa v0.107 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 v0.11284 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
Intellectual disability syndromic and non-syndromic v0.4547 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777
Intellectual disability syndromic and non-syndromic v0.4546 FBXO28 Zornitza Stark edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777
Genetic Epilepsy v0.1470 FBXO28 Zornitza Stark Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777
Genetic Epilepsy v0.1469 FBXO28 Zornitza Stark edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777
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
Renal Macrocystic Disease v0.42 DZIP1L Yu Leng Phua Deleted their review
Renal Macrocystic Disease v0.42 DZIP1L Yu Leng Phua Deleted their comment
Aortopathy_Connective Tissue Disorders v1.62 TLN1 Bryony Thompson Marked gene: TLN1 as ready
Aortopathy_Connective Tissue Disorders v1.62 TLN1 Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.62 TLN1 Bryony Thompson Classified gene: TLN1 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v1.62 TLN1 Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v1.61 TLN1 Bryony Thompson gene: TLN1 was added
gene: TLN1 was added to Aortopathy_Connective Tissue Disorders. 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
Renal Macrocystic Disease v0.42 DZIP1L Yu Leng Phua reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35211789; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Miscellaneous Metabolic Disorders v1.9 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4546 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Microcephaly v1.113 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Genetic Epilepsy v0.1469 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
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
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Marked gene: KLKB1 as ready
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Classified gene: KLKB1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.6 KLKB1 Zornitza Stark Gene: klkb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.5 KLKB1 Zornitza Stark gene: KLKB1 was added
gene: KLKB1 was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLKB1 were set to 15461630; 33073460
Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, MIM# 612423
Review for gene: KLKB1 was set to AMBER
Added comment: Prolonged aPTT, but asymptomatic, hence some variants have a high gnomad frequency.
Sources: Expert Review
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
Paroxysmal Dyskinesia v0.100 TMEM151A Bryony Thompson Phenotypes for gene: TMEM151A were changed from Paroxysmal Kinesigenic Dyskinesia to Paroxysmal Kinesigenic Dyskinesia; episodic kinesigenic dyskinesia MONDO:0044202
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Classified gene: TMEM151A as Green List (high evidence)
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Added comment: Comment on list classification: 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.
Paroxysmal Dyskinesia v0.99 TMEM151A Bryony Thompson Gene: tmem151a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.24 ATP6AP2 Bryony Thompson Mode of inheritance for gene: ATP6AP2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.98 TMEM151A Shekeeb Mohammad gene: TMEM151A was added
gene: TMEM151A was added to Paroxysmal Dyskinesia. 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 Paroxysmal Kinesigenic Dyskinesia
Review for gene: TMEM151A was set to GREEN
Added comment: 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).
Hair disorders v0.58 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Hair disorders v0.58 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.58 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from Hypotrichosis 3, 613981 to Hypotrichosis 3 , MIM# 613981; Woolly hair, autosomal dominant, MIM# 194300
Hair disorders v0.57 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Hair disorders v0.56 KRT74 Zornitza Stark Classified gene: KRT74 as Amber List (moderate evidence)
Hair disorders v0.56 KRT74 Zornitza Stark Gene: krt74 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.55 KRT74 Zornitza Stark reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 21188418, 20346438, 21188418; Phenotypes: Hypotrichosis 3 , MIM# 613981, Woolly hair, autosomal dominant, MIM# 194300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Classified gene: KRT74 as Red List (low evidence)
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.66 KRT74 Zornitza Stark reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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).
Hair disorders v0.55 KRT81 Zornitza Stark Marked gene: KRT81 as ready
Hair disorders v0.55 KRT81 Zornitza Stark Gene: krt81 has been classified as Green List (High Evidence).
Hair disorders v0.55 KRT81 Zornitza Stark Phenotypes for gene: KRT81 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000
Hair disorders v0.54 KRT81 Zornitza Stark Publications for gene: KRT81 were set to 31332722
Hair disorders v0.53 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 v0.11231 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
Fetal anomalies v1.9 UNC80 Zornitza Stark Phenotypes for gene: UNC80 were changed from Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777
Fetal anomalies v1.8 UNC80 Zornitza Stark Classified gene: UNC80 as Amber List (moderate evidence)
Fetal anomalies v1.8 UNC80 Zornitza Stark Gene: unc80 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.708 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Mitochondrial disease v0.708 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.708 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239; Deafness, autosomal recessive 94 - MIM#618434
Mitochondrial disease v0.707 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Mitochondrial disease v0.706 NARS2 Zornitza Stark Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Genetic Epilepsy v0.1469 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Genetic Epilepsy v0.1469 NARS2 Zornitza Stark Added comment: Comment when marking as ready: Refractory seizures are part of the phenotype.
Genetic Epilepsy v0.1469 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1469 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239
Genetic Epilepsy v0.1468 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Genetic Epilepsy v0.1467 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).
Microcephaly v1.113 NARS Zornitza Stark Marked gene: NARS as ready
Microcephaly v1.113 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Microcephaly v1.113 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Microcephaly v1.113 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Microcephaly v1.112 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Intellectual disability syndromic and non-syndromic v0.4546 NANS Zornitza Stark Marked gene: NANS as ready
Intellectual disability syndromic and non-syndromic v0.4546 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4546 NANS Zornitza Stark Phenotypes for gene: NANS were changed from to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442
Intellectual disability syndromic and non-syndromic v0.4545 NANS Zornitza Stark Publications for gene: NANS were set to
Intellectual disability syndromic and non-syndromic v0.4544 NANS Zornitza Stark Mode of inheritance for gene: NANS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Fetal anomalies v1.7 UNC80 Ain Roesley reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: None; Publications: 26545877; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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
Arthrogryposis v0.325 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266
Arthrogryposis v0.324 NALCN Zornitza Stark Publications for gene: NALCN were set to
Arthrogryposis v0.323 NALCN Zornitza Stark Mode of inheritance for gene: NALCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.322 NALCN Zornitza Stark reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.112 NALCN Zornitza Stark Marked gene: NALCN as ready
Microcephaly v1.112 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Microcephaly v1.112 NALCN Zornitza Stark Classified gene: NALCN as Green List (high evidence)
Microcephaly v1.112 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
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
Genetic Epilepsy v0.1466 NACC1 Zornitza Stark Marked gene: NACC1 as ready
Genetic Epilepsy v0.1466 NACC1 Zornitza Stark Gene: nacc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1466 NACC1 Zornitza Stark Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393
Genetic Epilepsy v0.1465 NACC1 Zornitza Stark Publications for gene: NACC1 were set to
Genetic Epilepsy v0.1464 NACC1 Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4543 NACC1 Zornitza Stark Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393
Genetic Epilepsy v0.1463 NACC1 Zornitza Stark 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
Intellectual disability syndromic and non-syndromic v0.4542 NACC1 Zornitza Stark Publications for gene: NACC1 were set to
Intellectual disability syndromic and non-syndromic v0.4541 NACC1 Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4540 NACC1 Zornitza Stark 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 v0.11209 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
Fetal anomalies v1.7 NAA15 Zornitza Stark Publications for gene: NAA15 were set to 31127942
Fetal anomalies v1.6 NAA15 Zornitza Stark Classified gene: NAA15 as Green List (high evidence)
Fetal anomalies v1.6 NAA15 Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence).
Fetal anomalies v1.5 NAA15 Zornitza Stark edited their review of gene: NAA15: Changed publications: 33557580
Fetal anomalies v1.5 NAA15 Zornitza Stark changed review comment from: Typically presents post-natally.; to: Congenital heart defects in 4 of 19 individuals reported with the neurodevelopmental syndrome.

PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.
Fetal anomalies v1.5 NAA15 Zornitza Stark edited their review of gene: NAA15: Changed rating: GREEN
Fetal anomalies v1.5 NAA15 Zornitza Stark edited their review of gene: NAA15: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.4540 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Intellectual disability syndromic and non-syndromic v0.4540 NAA15 Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4540 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Intellectual disability syndromic and non-syndromic v0.4539 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Intellectual disability syndromic and non-syndromic v0.4538 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4537 NAA15 Zornitza Stark 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 v0.11206 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
Congenital Heart Defect v0.200 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Congenital Heart Defect v0.200 NAA15 Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.200 NAA15 Zornitza Stark Classified gene: NAA15 as Green List (high evidence)
Congenital Heart Defect v0.200 NAA15 Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence).
Ciliopathies v1.27 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like
Ciliopathies v1.26 SUFU Zornitza Stark Publications for gene: SUFU were set to 28965847
Ciliopathies v1.25 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.24 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Ciliopathies v1.24 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Ciliopathies v1.23 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS. Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 28965847, 34675124; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.21 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like
Joubert syndrome and other neurological ciliopathies v1.20 SUFU Zornitza Stark Publications for gene: SUFU were set to 28965847
Joubert syndrome and other neurological ciliopathies v1.19 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.18 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v1.18 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark edited their review of gene: SUFU: Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like, Joubert syndrome 32, MIM# 617757
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS.
Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 34675124; Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v1.17 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
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
Mitochondrial disease v0.705 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: None
Genetic Epilepsy v0.1463 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
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark Marked gene: KRT83 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark Gene: krt83 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.111 KRT83 Zornitza Stark gene: KRT83 was added
gene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review
Mode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT83 were set to 27965375
Phenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
Review for gene: KRT83 was set to RED
Added comment: Single family reported.
Sources: Expert Review
Hair disorders v0.53 KRT83 Zornitza Stark Publications for gene: KRT83 were set to 31332722
Hair disorders v0.52 KRT83 Zornitza Stark Marked gene: KRT83 as ready
Hair disorders v0.52 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.52 KRT83 Zornitza Stark Classified gene: KRT83 as Amber List (moderate evidence)
Hair disorders v0.52 KRT83 Zornitza Stark Gene: krt83 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.51 KRT83 Zornitza Stark reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 15744029, 25557232; Phenotypes: Monilethrix , MIM#158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Fetal anomalies v1.5 EFNB1 Bryony Thompson Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males
Fetal anomalies v1.5 EFNB1 Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Clefting disorders v0.177 EFNB1 Bryony Thompson Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males
Clefting disorders v0.177 EFNB1 Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Congenital diaphragmatic hernia v1.6 EFNB1 Bryony Thompson Added comment: Comment on mode of inheritance: X-LINKED: heterozygous females demonstrate more severe disease than hemizygous males
Congenital diaphragmatic hernia v1.6 EFNB1 Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Fetal anomalies v1.4 NARS Krithika Murali gene: NARS was added
gene: NARS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092
Review for gene: NARS was set to GREEN
Added comment: HGNC approved gene symbol - NARS1

Both mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Antenatal features reported.

PMID 32738225 - reports roband with de novo heterozygous variant - IUGR and oligohydramnios noted prenatally. At birth noted to have low weight and OFC for gestational age. Proband with homozygous variant diagnosed with microcephaly, seizures and FTT in the neonatal period. Proband with compound het variants born with a low weight (-2.38 SD) and height (-3.76 SD) for gestational age. Review of supplementary material table - microcephaly at birth reported in 17 unrelated families.
Sources: Literature
Microcephaly v1.111 NARS Krithika Murali gene: NARS was added
gene: NARS was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092
Review for gene: NARS was set to GREEN
Added comment: HGNC approved gene symbol - NARS1

Both mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Microcephaly a commonly reported feature.
Sources: Literature
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
Intellectual disability syndromic and non-syndromic v0.4537 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
Microcephaly v1.111 NALCN Krithika Murali gene: NALCN was added
gene: NALCN was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NALCN were set to 25683120; 23749988; 24075186; 30167850
Phenotypes for gene: NALCN were set 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
Review for gene: NALCN was set to GREEN
Added comment: Monoallelic NALCN missense variants reported in individuals with congenital contractures of the limbs and face, hypotonia, and developmental delay.

Biallelic NALCN variants cause severe infantile hypotonia with psychomotor retardation and characteristic facial features. Microcephaly a reported feature. PMID: 30167850 report new cases with balletic variants and review previously published cases noting microcephaly in 14/21 individuals.
Sources: Literature
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
Craniosynostosis v1.35 IRX5 Zornitza Stark Publications for gene: IRX5 were set to 22581230
Craniosynostosis v1.34 IRX5 Zornitza Stark Classified gene: IRX5 as Green List (high evidence)
Craniosynostosis v1.34 IRX5 Zornitza Stark Gene: irx5 has been classified as Green List (High Evidence).
Craniosynostosis v1.33 IRX5 Zornitza Stark reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581230, 27453922, 34899143; Phenotypes: Hamamy syndrome, MIM# 611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.4 IRX5 Zornitza Stark Classified gene: IRX5 as Green List (high evidence)
Fetal anomalies v1.4 IRX5 Zornitza Stark Gene: irx5 has been classified as Green List (High Evidence).
Fetal anomalies v1.3 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.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143
Intellectual disability syndromic and non-syndromic v0.4537 IRX5 Zornitza Stark Publications for gene: IRX5 were set to 22581230; 27453922
Intellectual disability syndromic and non-syndromic v0.4536 IRX5 Zornitza Stark Classified gene: IRX5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4536 IRX5 Zornitza Stark Gene: irx5 has been classified as Green List (High Evidence).
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
Intellectual disability syndromic and non-syndromic v0.4535 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. Intellectual disability.; Changed rating: GREEN; Changed publications: 22581230, 27453922, 34899143
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
Congenital Heart Defect v0.199 NAA15 Krithika Murali Deleted their comment
Congenital Heart Defect v0.199 NAA15 Krithika Murali edited their review of gene: NAA15: Added comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:

- ID (all)
- Mild dysmorphic features (20/30)
- ASD/ADHD/behavioural issues (30/33)
- Skeletal and connective tissue anomalies (10/22)
- Congenital heart defects (4/19)
- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)

In addition:

PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787, congenital heart defect
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
Congenital Heart Defect v0.199 NAA15 Krithika Murali gene: NAA15 was added
gene: NAA15 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAA15 were set to 33103328; 29656860; 31127942; 28191889; 33557580; 28990276
Phenotypes for gene: NAA15 were set to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Review for gene: NAA15 was set to GREEN
Added comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:

- ID (all)
- Mild dysmorphic features (20/30)
- ASD/ADHD/behavioural issues (30/33)
- Skeletal and connective tissue anomalies (10/22)
- Congenital heart defects (4/19)
- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)

In addition:

PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.
Sources: Literature
Callosome v0.364 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Callosome v0.364 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Callosome v0.364 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
Callosome v0.363 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Callosome v0.362 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.361 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
Genetic Epilepsy v0.1463 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Genetic Epilepsy v0.1463 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1463 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
Genetic Epilepsy v0.1462 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Genetic Epilepsy v0.1461 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1460 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
Mitochondrial disease v0.705 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Mitochondrial disease v0.705 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.705 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
Mitochondrial disease v0.704 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Mitochondrial disease v0.703 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.702 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 v0.11189 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).
Hair disorders v0.51 KRT86 Zornitza Stark Marked gene: KRT86 as ready
Hair disorders v0.51 KRT86 Zornitza Stark Gene: krt86 has been classified as Green List (High Evidence).
Hair disorders v0.51 KRT86 Zornitza Stark Phenotypes for gene: KRT86 were changed from Monilethrix, 158000 to Monilethrix, MIM# 158000
Mendeliome v0.11178 KRT86 Zornitza Stark Phenotypes for gene: KRT86 were changed from to Monilethrix, MIM# 158000
Hair disorders v0.50 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 v0.11177 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
Retinitis pigmentosa v0.107 ZNF408 Zornitza Stark Marked gene: ZNF408 as ready
Retinitis pigmentosa v0.107 ZNF408 Zornitza Stark Gene: znf408 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.107 ZNF408 Zornitza Stark Phenotypes for gene: ZNF408 were changed from Retinitis pigmentosa 72; Familial exudative vitreoretinopathy (FEVR) to Retinitis pigmentosa 72, MIM# 616469
Retinitis pigmentosa v0.106 ZNF408 Zornitza Stark Publications for gene: ZNF408 were set to
Retinitis pigmentosa v0.105 ZNF408 Zornitza Stark Mode of inheritance for gene: ZNF408 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.104 ZNF408 Zornitza Stark reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: None; Publications: 25882705, 34259982, 28095122; Phenotypes: Retinitis pigmentosa 72, MIM# 616469; 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).
Fetal anomalies v1.3 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Fetal anomalies v1.3 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Fetal anomalies v1.3 ZNF335 Zornitza Stark Classified gene: ZNF335 as Green List (high evidence)
Fetal anomalies v1.3 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Fetal anomalies v1.2 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087; 34982360
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095)
Review for gene: ZNF335 was set to GREEN
Added comment: Microcephaly is generally primary, including reports of -9SD at birth.
Sources: Expert Review
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
Congenital Heart Defect v0.199 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Congenital Heart Defect v0.199 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.199 ZFPM2 Zornitza Stark Phenotypes for gene: ZFPM2 were changed from to Tetralogy of Fallot, MIM# 187500
Congenital Heart Defect v0.198 ZFPM2 Zornitza Stark Publications for gene: ZFPM2 were set to
Congenital Heart Defect v0.197 ZFPM2 Zornitza Stark Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.196 ZFPM2 Zornitza Stark Classified gene: ZFPM2 as Amber List (moderate evidence)
Congenital Heart Defect v0.196 ZFPM2 Zornitza Stark Gene: zfpm2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.195 ZFPM2 Zornitza Stark reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21919901, 24469719, 26959486; Phenotypes: Tetralogy of Fallot, MIM# 187500; 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
Fetal anomalies v1.1 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from MAN2C1-related neurodevelopmental disorder MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775
Fetal anomalies v1.0 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
Intellectual disability syndromic and non-syndromic v0.4535 MAN2C1 Zornitza Stark Marked gene: MAN2C1 as ready
Intellectual disability syndromic and non-syndromic v0.4535 MAN2C1 Zornitza Stark Gene: man2c1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4535 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775
Intellectual disability syndromic and non-syndromic v0.4534 MAN2C1 Zornitza Stark Classified gene: MAN2C1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4534 MAN2C1 Zornitza Stark Gene: man2c1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4533 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 v0.11136 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
Cerebellar and Pontocerebellar Hypoplasia v1.46 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775
Cerebellar and Pontocerebellar Hypoplasia v1.45 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
Polymicrogyria and Schizencephaly v0.172 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775
Polymicrogyria and Schizencephaly v0.171 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
IBMDx study v0.20 RPA1 Zornitza Stark Marked gene: RPA1 as ready
IBMDx study v0.20 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
IBMDx study v0.20 RPA1 Zornitza Stark Phenotypes for gene: RPA1 were changed from New TBD gene ASH 2020 St Judes 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
IBMDx study v0.19 RPA1 Zornitza Stark Publications for gene: RPA1 were set to
IBMDx study v0.18 RPA1 Zornitza Stark Mode of pathogenicity for gene: RPA1 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
IBMDx study v0.17 RPA1 Zornitza Stark Mode of inheritance for gene: RPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.16 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
Pulmonary Fibrosis_Interstitial Lung Disease v0.42 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
Pulmonary Fibrosis_Interstitial Lung Disease v0.41 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 v0.11135 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
Bone Marrow Failure v1.10 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
Bone Marrow Failure v1.9 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).
Intellectual disability syndromic and non-syndromic v0.4533 NFE2L1 Zornitza Stark Marked gene: NFE2L1 as ready
Intellectual disability syndromic and non-syndromic v0.4533 NFE2L1 Zornitza Stark Gene: nfe2l1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4533 NFE2L1 Zornitza Stark gene: NFE2L1 was added
gene: NFE2L1 was added to Intellectual disability syndromic and non-syndromic. 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
Stickler Syndrome v1.3 COL9A3 Zornitza Stark changed review comment from: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome.; to: Note mono-allelic variants have been associated with isolated deafness and retinal phenotypes which overlap with Stickler syndrome.

However, of the two families with isolated retinal phenotype, one of the variants reported has a high population frequency, not compatible with a monogenic disorder, PMID 33633367.
Vitreoretinopathy v1.3 COL9A3 Zornitza Stark Classified gene: COL9A3 as Amber List (moderate evidence)
Vitreoretinopathy v1.3 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Amber List (Moderate 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
Vitreoretinopathy v1.2 COL9A3 Ain Roesley changed review comment from: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2.

This leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations; to: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2.

This leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 11 affecteds (genotyped) across 2 generations
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
Disorders of immune dysregulation v0.109 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Disorders of immune dysregulation v0.108 XIAP Zornitza Stark Publications for gene: XIAP were set to 22228567; 25943627
Disorders of immune dysregulation v0.107 XIAP Zornitza Stark Publications for gene: XIAP were set to
Disorders of immune dysregulation v0.107 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Marked gene: XIAP as ready
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.98 XIAP Zornitza Stark Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
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).
Predominantly Antibody Deficiency v0.97 XIAP Zornitza Stark Publications for gene: XIAP were set to
Disorders of immune dysregulation v0.106 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
Predominantly Antibody Deficiency v0.96 XIAP Zornitza Stark Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Predominantly Antibody Deficiency v0.95 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 v0.11124 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
Intellectual disability syndromic and non-syndromic v0.4532 QDPR Zornitza Stark Marked gene: QDPR as ready
Intellectual disability syndromic and non-syndromic v0.4532 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4532 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Intellectual disability syndromic and non-syndromic v0.4531 QDPR Zornitza Stark Publications for gene: QDPR were set to
Intellectual disability syndromic and non-syndromic v0.4530 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4529 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 v0.11120 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
Repeat Disorders v0.150 OPDM4 Bryony Thompson Marked STR: OPDM4 as ready
Repeat Disorders v0.150 OPDM4 Bryony Thompson Str: opdm4 has been classified as Green List (High Evidence).
Repeat Disorders v0.150 OPDM4 Bryony Thompson Classified STR: OPDM4 as Green List (high evidence)
Repeat Disorders v0.150 OPDM4 Bryony Thompson Str: opdm4 has been classified as Green List (High Evidence).
Repeat Disorders v0.149 OPDM4 Bryony Thompson STR: OPDM4 was added
STR: OPDM4 was added to Repeat Disorders. 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
Fetal anomalies v1.0 Zornitza Stark promoted panel to version 1.0
Fetal anomalies v0.4732 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Fetal anomalies v0.4732 OXR1 Zornitza Stark Gene: oxr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4732 OXR1 Zornitza Stark Classified gene: OXR1 as Amber List (moderate evidence)
Fetal anomalies v0.4732 OXR1 Zornitza Stark Gene: oxr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4731 OXR1 Zornitza Stark reviewed gene: OXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000; Mode of inheritance: None
Fetal anomalies v0.4731 MED27 Zornitza Stark Marked gene: MED27 as ready
Fetal anomalies v0.4731 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Fetal anomalies v0.4731 MED27 Zornitza Stark Classified gene: MED27 as Green List (high evidence)
Fetal anomalies v0.4731 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Fetal anomalies v0.4730 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Fetal anomalies v0.4730 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Fetal anomalies v0.4730 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Fetal anomalies v0.4730 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Fetal anomalies v0.4729 OXR1 Krithika Murali gene: OXR1 was added
gene: OXR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to PMID: 31785787
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000
Review for gene: OXR1 was set to GREEN
Added comment: Early-onset condition associated with cerebellar atrophy and severe global developmental delay. Limited antenatal information provided but affected individuals were much older at the time of formal diagnosis PMID: 31785787, antenatal detection may be possible.

---
5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Literature
Fetal anomalies v0.4729 MED27 Krithika Murali gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Review for gene: MED27 was set to GREEN
Added comment: Severe neurodevelopmental disorder with onset in infancy associated with multiple, significant brain anomalies which may be detectable antenatally (although antenatal phenotype not reported in published cases)
Sources: Literature
Fetal anomalies v0.4729 EXOSC9 Krithika Murali gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 33040083; 30690203; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D - MIM#618065
Review for gene: EXOSC9 was set to GREEN
Added comment: Multiple antenatal features reported including IUGR, reduced fetal movements, oligohydramnios, congenital fractures and contractures.
Sources: Literature
Fetal anomalies v0.4729 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Fetal anomalies v0.4729 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.4729 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Green List (high evidence)
Fetal anomalies v0.4729 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Fetal anomalies v0.4728 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Fetal anomalies v0.4728 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Fetal anomalies v0.4728 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Green List (high evidence)
Fetal anomalies v0.4728 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Fetal anomalies v0.4727 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Fetal anomalies v0.4727 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4727 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Fetal anomalies v0.4727 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4726 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Fetal anomalies v0.4726 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.4726 RBP4 Zornitza Stark Classified gene: RBP4 as Green List (high evidence)
Fetal anomalies v0.4726 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.4725 RBP4 Zornitza Stark gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 25910211; 29178648
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428
Review for gene: RBP4 was set to GREEN
Added comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA.
Sources: Expert Review
Fetal anomalies v0.4724 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Fetal anomalies v0.4724 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Fetal anomalies v0.4724 PRR12 Zornitza Stark Classified gene: PRR12 as Green List (high evidence)
Fetal anomalies v0.4724 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Fetal anomalies v0.4723 PRR12 Zornitza Stark gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 33314030; 29556724
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, MIM#619539; Complex microphthalmia
Review for gene: PRR12 was set to GREEN
Added comment: PMID 33314030: Four unrelated families reported with unilateral or bilateral microphthalmia +/- Peters anomaly. In addition, 3 unrelated families reported with more complex phenotype including ID in PMID 29556724.
Sources: Expert Review
Fetal anomalies v0.4722 EXOSC8 Krithika Murali changed review comment from: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals
Sources: Literature; to: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 (more info in supplementary material) report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals
Sources: Literature
Fetal anomalies v0.4722 EXOSC8 Krithika Murali gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 34210538; 24989451
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C - MIM#616081
Review for gene: EXOSC8 was set to GREEN
Added comment: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals
Sources: Literature
Fetal anomalies v0.4722 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Fetal anomalies v0.4722 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4722 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Fetal anomalies v0.4722 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4721 MAB21L1 Zornitza Stark gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
Review for gene: MAB21L1 was set to GREEN
Added comment: Pontocerebellar hypoplasia, Dandy-Walker malformation, microcephaly reported.
Sources: Expert Review
Fetal anomalies v0.4720 FBXW11 Zornitza Stark Marked gene: FBXW11 as ready
Fetal anomalies v0.4720 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Green List (High Evidence).
Fetal anomalies v0.4720 FBXW11 Zornitza Stark Classified gene: FBXW11 as Green List (high evidence)
Fetal anomalies v0.4720 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Green List (High Evidence).
Fetal anomalies v0.4719 FBXW11 Zornitza Stark changed review comment from: 7 unrelated individuals; structural brain, eye and limb anomalies.
Sources: Expert Review; to: 7 unrelated individuals; structural brain, craniofacial, eye and limb anomalies.
Sources: Expert Review
Fetal anomalies v0.4719 FBXW11 Zornitza Stark gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914
Review for gene: FBXW11 was set to GREEN
Added comment: 7 unrelated individuals; structural brain, eye and limb anomalies.
Sources: Expert Review
Fetal anomalies v0.4718 EXOSC5 Krithika Murali gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576
Review for gene: EXOSC5 was set to GREEN
Added comment: Associated with congenital anomalies
Sources: Literature
Fetal anomalies v0.4718 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Fetal anomalies v0.4718 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Fetal anomalies v0.4718 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Fetal anomalies v0.4718 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Fetal anomalies v0.4717 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Expert Review
Fetal anomalies v0.4716 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Fetal anomalies v0.4716 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4716 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Fetal anomalies v0.4716 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4715 C16orf62 Zornitza Stark changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).

Microphthalmia and multiple other anomalies.
Sources: Expert Review; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impaired autophagy and VPS35L knockout mouse resulted in early embryonic lethality (PMID 25434475;31712251).

Microphthalmia and multiple other anomalies.
Sources: Expert Review
Fetal anomalies v0.4715 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).

Microphthalmia and multiple other anomalies.
Sources: Expert Review
Fetal anomalies v0.4714 CWF19L1 Krithika Murali gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127
Review for gene: CWF19L1 was set to GREEN
Added comment: Fetal phenotype also described by 27016154 - MTOP at 22 weeks of gestation of an affected fetus due to small cerebellum and agenesis of corpus callosum. Postmortem examination showed unilateral hexadactyly and vertebral malformations.
Sources: Literature
Fetal anomalies v0.4714 TMEM218 Zornitza Stark Marked gene: TMEM218 as ready
Fetal anomalies v0.4714 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Fetal anomalies v0.4714 TMEM218 Zornitza Stark Classified gene: TMEM218 as Green List (high evidence)
Fetal anomalies v0.4714 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Fetal anomalies v0.4713 NID1 Zornitza Stark Marked gene: NID1 as ready
Fetal anomalies v0.4713 NID1 Zornitza Stark Gene: nid1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4713 NID1 Zornitza Stark Classified gene: NID1 as Green List (high evidence)
Fetal anomalies v0.4713 NID1 Zornitza Stark Gene: nid1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4712 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Fetal anomalies v0.4712 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4712 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Fetal anomalies v0.4712 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4711 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Fetal anomalies v0.4711 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Fetal anomalies v0.4711 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Green List (high evidence)
Fetal anomalies v0.4711 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Green List (High Evidence).
Fetal anomalies v0.4710 KIAA0556 Zornitza Stark Tag new gene name tag was added to gene: KIAA0556.
Fetal anomalies v0.4710 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Fetal anomalies v0.4710 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4710 BRF1 Zornitza Stark Classified gene: BRF1 as Green List (high evidence)
Fetal anomalies v0.4710 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4709 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Fetal anomalies v0.4709 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Fetal anomalies v0.4709 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582 to Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582
Fetal anomalies v0.4708 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Fetal anomalies v0.4708 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Fetal anomalies v0.4707 BRF1 Krithika Murali gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 25561519; 25561519; 27748960
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202
Review for gene: BRF1 was set to GREEN
Added comment: Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.

At least 5 unrelated families and a zebrafish model.
Sources: Literature
Fetal anomalies v0.4707 FAM149B1 Zornitza Stark Marked gene: FAM149B1 as ready
Fetal anomalies v0.4707 FAM149B1 Zornitza Stark Gene: fam149b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4707 FAM149B1 Zornitza Stark Classified gene: FAM149B1 as Green List (high evidence)
Fetal anomalies v0.4707 FAM149B1 Zornitza Stark Gene: fam149b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4706 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Fetal anomalies v0.4706 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4706 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from Joubert syndrome to Joubert syndrome, MONDO:0018772
Fetal anomalies v0.4705 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Fetal anomalies v0.4705 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4704 ARL3 Zornitza Stark Marked gene: ARL3 as ready
Fetal anomalies v0.4704 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.4704 ARL3 Zornitza Stark Classified gene: ARL3 as Green List (high evidence)
Fetal anomalies v0.4704 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.4703 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Fetal anomalies v0.4702 MTX2 Krithika Murali gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome - MIM#619127
Review for gene: MTX2 was set to GREEN
Added comment: Biallelic variants associated with severe progeroid form of MAD
Sources: Literature
Fetal anomalies v0.4702 TMEM218 Krithika Murali gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 33791682; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39 - MIM#619562
Review for gene: TMEM218 was set to GREEN
Added comment: Associated with Jouberty syndrome. Occipital encephalocele reported in 5 fetuses.
Sources: Literature
Fetal anomalies v0.4702 NID1 Krithika Murali gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 23674478; 25558065; 12480912; 30773799
Phenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Review for gene: NID1 was set to GREEN
Added comment: No OMIM gene disease association. Monoallelic variants associated with brain anomalies including hydrocephalus, Dandy Walker malformation and occipital cephalocele.
-
Sources: Literature
Fetal anomalies v0.4702 KIAA0556 Krithika Murali gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 26714646; 27245168
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26 - MIM#616784
Review for gene: KIAA0556 was set to GREEN
Added comment: Associated with Joubert syndrome.

5 individuals from two families reported, supportive mouse model.

New HGNC approved name is KATNIP.
Sources: Literature
Fetal anomalies v0.4702 IFT74 Krithika Murali gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 33531668; 27486776; 32144365
Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582
Review for gene: IFT74 was set to GREEN
Added comment: Biallelic variants associated with both Joubert and Bardet-Biedl syndrome phenotype - multiple congenital anomalies reported.
Sources: Literature
Fetal anomalies v0.4702 FAM149B1 Krithika Murali gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36 - MIM#618763
Review for gene: FAM149B1 was set to GREEN
Added comment: Biallelic variants associated with Joubert syndrome in 4 unrelated families. Reported characteristics in published cases includes macrocephaly, mesoaxial polydactyly and cleft lip
Sources: Literature
Fetal anomalies v0.4702 CCDC28B Krithika Murali gene: CCDC28B was added
gene: CCDC28B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC28B were set to 32139166
Phenotypes for gene: CCDC28B were set to Joubert syndrome
Review for gene: CCDC28B was set to AMBER
Added comment: No new publications since last PanelApp review May 2020

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PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.
Sources: Literature
Fetal anomalies v0.4702 ARL3 Krithika Murali gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35- MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: Associated with Joubert syndrome with antenatally detectable features including renal and brain anomalies
Sources: Literature
Fetal anomalies v0.4702 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Fetal anomalies v0.4702 MORC2 Zornitza Stark Gene: morc2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4702 MORC2 Zornitza Stark Classified gene: MORC2 as Red List (low evidence)
Fetal anomalies v0.4702 MORC2 Zornitza Stark Gene: morc2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4700 MORC2 Krithika Murali gene: MORC2 was added
gene: MORC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090
Review for gene: MORC2 was set to RED
Added comment: No new publications since last PanelApp review Dec 2020. No antenatal features reported.

---

MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Literature
Fetal anomalies v0.4700 NCAPD2 Zornitza Stark Marked gene: NCAPD2 as ready
Fetal anomalies v0.4700 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4700 NCAPD2 Zornitza Stark Classified gene: NCAPD2 as Green List (high evidence)
Fetal anomalies v0.4700 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4699 MINPP1 Krithika Murali gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696; 33168985
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527
Review for gene: MINPP1 was set to GREEN
Added comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696)
Sources: Literature
Fetal anomalies v0.4699 NCAPD2 Zornitza Stark gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 31056748; 27737959; 28097321
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Review for gene: NCAPD2 was set to GREEN
Added comment: Three families reported: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence. 1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. 1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.

IUGR reported.
Sources: Expert Review
Fetal anomalies v0.4698 NSRP1 Zornitza Stark Marked gene: NSRP1 as ready
Fetal anomalies v0.4698 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4698 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Fetal anomalies v0.4698 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4697 NSRP1 Zornitza Stark gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder, MONDO:0700092, NSRP1-related; Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to GREEN
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.

Structural brain abnormalities.
Sources: Expert Review
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
Fetal anomalies v0.4696 NUF2 Zornitza Stark Marked gene: NUF2 as ready
Fetal anomalies v0.4696 NUF2 Zornitza Stark Gene: nuf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4696 NUF2 Zornitza Stark gene: NUF2 was added
gene: NUF2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NUF2 were set to 33721060
Phenotypes for gene: NUF2 were set to Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect
Review for gene: NUF2 was set to RED
Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Expert Review
Fetal anomalies v0.4695 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Fetal anomalies v0.4695 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Fetal anomalies v0.4695 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Fetal anomalies v0.4695 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Fetal anomalies v0.4694 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 32021605; 28726809; 32275884
Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities
Review for gene: NUP188 was set to GREEN
Added comment: 8 unrelated individuals reported.
Sources: Expert Review
Fetal anomalies v0.4693 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Fetal anomalies v0.4693 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4693 NUP85 Zornitza Stark Classified gene: NUP85 as Amber List (moderate evidence)
Fetal anomalies v0.4693 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4692 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319
Phenotypes for gene: NUP85 were set to Microcephaly, MONDO:0001149, NUP85-related
Review for gene: NUP85 was set to AMBER
Added comment: PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.

Variants in this gene are also associated with nephrotic syndrome.
Sources: Expert Review
Fetal anomalies v0.4691 PUS7 Zornitza Stark Marked gene: PUS7 as ready
Fetal anomalies v0.4691 PUS7 Zornitza Stark Gene: pus7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4691 PUS7 Zornitza Stark Classified gene: PUS7 as Amber List (moderate evidence)
Fetal anomalies v0.4691 PUS7 Zornitza Stark Gene: pus7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4690 PUS7 Zornitza Stark reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342; Mode of inheritance: None
Fetal anomalies v0.4690 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Fetal anomalies v0.4690 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Fetal anomalies v0.4690 PTPN23 Zornitza Stark Classified gene: PTPN23 as Green List (high evidence)
Fetal anomalies v0.4690 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Fetal anomalies v0.4689 PUS7 Belinda Chong gene: PUS7 was added
gene: PUS7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to RED
gene: PUS7 was marked as current diagnostic
Added comment: Onset at infancy

11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Fetal anomalies v0.4689 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Fetal anomalies v0.4689 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4689 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Fetal anomalies v0.4689 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4688 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Fetal anomalies v0.4688 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4688 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Fetal anomalies v0.4688 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4687 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Fetal anomalies v0.4687 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4687 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Fetal anomalies v0.4687 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4686 PTPN23 Belinda Chong gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Review for gene: PTPN23 was set to GREEN
gene: PTPN23 was marked as current diagnostic
Added comment: Onset at birth or early infancy.

Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Literature
Fetal anomalies v0.4686 PRIM1 Belinda Chong gene: PRIM1 was added
gene: PRIM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
gene: PRIM1 was marked as current diagnostic
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Fetal anomalies v0.4686 PPP1R15B Belinda Chong gene: PPP1R15B was added
gene: PPP1R15B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355
Phenotypes for gene: PPP1R15B were set to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Review for gene: PPP1R15B was set to AMBER
gene: PPP1R15B was marked as current diagnostic
Added comment: Three unrelated families reported, two with the same variant. Phenotype in family reported in PMID 27640355 included infantile cirrhosis requiring transplantation.
Sources: Literature
Photosensitivity Syndromes v1.0 RECQL Dean Phelan gene: RECQL was added
gene: RECQL was added to Photosensitivity Syndromes. 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 genome instability disorder. Both families had the same missense variant. Phenotype was progeriod facial features, skin photosensitivity, xeroderma, and slender elongated thumbs.
Sources: Literature
Heterotaxy v1.15 AL117258.1 Zornitza Stark Marked gene: AL117258.1 as ready
Heterotaxy v1.15 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Microcephaly v1.111 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Microcephaly v1.110 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Microcephaly v1.110 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.4686 PPIL1 Belinda Chong gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
gene: PPIL1 was marked as current diagnostic
Added comment: The patients presented at birth with severe microcephaly (-2 to -6 SD), which progressed postnatally (-4 to -8 SD)

17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Microcephaly v1.110 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Heterotaxy v1.15 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy, MONDO:0018677; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Microcephaly v1.110 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Microcephaly v1.110 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Microcephaly v1.109 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Heterotaxy v1.15 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Microcephaly v1.109 CPSF3 Alison Yeung Gene: cpsf3 has been removed from the panel.
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1461 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Heterotaxy v1.14 AL117258.1 Zornitza Stark Classified gene: AL117258.1 as Green List (high evidence)
Heterotaxy v1.14 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.195 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy, MONDO:0018677; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Genetic Epilepsy v0.1461 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Congenital Heart Defect v0.194 AL117258.1 Zornitza Stark Marked gene: AL117258.1 as ready
Congenital Heart Defect v0.194 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Congenital Heart Defect v0.194 AL117258.1 Zornitza Stark Phenotypes for gene: AL117258.1 were changed from Heterotaxy; congenital heart defects to Heterotaxy, MONDO:0018677; congenital heart defects
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.109 HIST1H4E Paul De Fazio gene: HIST1H4E was added
gene: HIST1H4E was added to Microcephaly. 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: HGNC recognised gene name: 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). OFC at most recent exam (age range 11 months to 18 years) ranged from -0.15SD to < -4SD. 10/17 had OFC < -3SD.
A zebrafish model has developmental defects.
Sources: Literature
Cardiomyopathy_Paediatric v0.126 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from 35147173 to Mitochondrial disease MONDO:0044970 CRLS1-related
Cardiomyopathy_Paediatric v0.125 CRLS1 Zornitza Stark Publications for gene: CRLS1 were set to
Cardiomyopathy_Paediatric v0.124 CRLS1 Zornitza Stark Classified gene: CRLS1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.124 CRLS1 Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres reviewed gene: CRLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35147173; Phenotypes: Mitochondrial disease MONDO:0044970 CRLS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.121 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1459 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Genetic Epilepsy v0.1459 CPSF3 Alison Yeung Gene: cpsf3 has been removed from the panel.
Congenital Heart Defect v0.193 AL117258.1 Zornitza Stark Classified gene: AL117258.1 as Green List (high evidence)
Congenital Heart Defect v0.193 AL117258.1 Zornitza Stark Gene: al117258.1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres Deleted their review
Intellectual disability syndromic and non-syndromic v0.4529 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Intellectual disability syndromic and non-syndromic v0.4529 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.4529 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4529 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.120 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Deafness_IsolatedAndComplex. 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
Review for gene: CRLS1 was set to GREEN
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

*2 individuals with auditory neuropathy and one with sensorineural hearing loss
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Marked gene: ZBTB7A as ready
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4528 CRLS1 Zornitza Stark reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Microcephaly v1.109 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, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4528 HIST1H4E Alison Yeung Classified gene: HIST1H4E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4528 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.101 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.123 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLS1 were set to 35147173
Review for gene: CRLS1 was set to AMBER
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

*Two individuals presented cardiac defects: one with LVNC, biventricular systolic dysfunction and evolved to HCM; the other one had biventricular dysfunction
Sources: Literature
Fetal anomalies v0.4686 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, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Marked gene: ZBTB7A as ready
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Classified gene: ZBTB7A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4528 ZBTB7A Zornitza Stark Gene: zbtb7a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4528 HIST1H4E Alison Yeung Classified gene: HIST1H4E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4528 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4527 HIST1H4E Alison Yeung Classified gene: HIST1H4E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4527 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4527 HIST1H4E Alison Yeung Classified gene: HIST1H4E as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4527 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4E Alison Yeung Marked gene: HIST1H4E as ready
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4E Alison Yeung Gene: hist1h4e has been removed from the panel.
Genetic Epilepsy v0.1459 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Genetic Epilepsy. 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
gene: CPSF3 was marked as current diagnostic
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 v0.11112 HIST1H4E Alison Yeung Marked gene: HIST1H4E as ready
Mendeliome v0.11112 HIST1H4E Alison Yeung Gene: hist1h4e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4D Zornitza Stark Marked gene: HIST1H4D as ready
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4D Zornitza Stark Gene: hist1h4d has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4D Zornitza Stark Classified gene: HIST1H4D as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4526 HIST1H4D Zornitza Stark Gene: hist1h4d has been classified as Amber List (Moderate 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).
Intellectual disability syndromic and non-syndromic v0.4525 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4525 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High 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
Intellectual disability syndromic and non-syndromic v0.4525 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
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).
Microcephaly v1.109 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Microcephaly. 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
gene: CPSF3 was marked as current diagnostic
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
Intellectual disability syndromic and non-syndromic v0.4524 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4524 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4524 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Intellectual disability syndromic and non-syndromic v0.4524 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4524 HIST1H4D Paul De Fazio changed review comment from: Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from langauge 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; to: HGNC recognised gene name: H4C4
Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from langauge 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
Intellectual disability syndromic and non-syndromic v0.4524 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Congenital Heart Defect v0.192 AL117258.1 Melanie Marty gene: AL117258.1 was added
gene: AL117258.1 was added to Congenital Heart Defect. 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 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
Intellectual disability syndromic and non-syndromic v0.4523 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4523 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4522 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to 28920961
Intellectual disability syndromic and non-syndromic v0.4521 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
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Marked gene: NRCAM as ready
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Gene: nrcam has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4520 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Intellectual disability syndromic and non-syndromic. 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
gene: CPSF3 was marked as current diagnostic
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
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Classified gene: NRCAM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Gene: nrcam 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
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Classified gene: NRCAM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4520 NRCAM Alison Yeung Gene: nrcam has been classified as Green List (High Evidence).
Heterotaxy v1.13 AL117258.1 Melanie Marty gene: AL117258.1 was added
gene: AL117258.1 was added to Heterotaxy. 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 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 v0.11109 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
Intellectual disability syndromic and non-syndromic v0.4519 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 v0.11108 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.
Intellectual disability syndromic and non-syndromic v0.4519 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 name: 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
Intellectual disability syndromic and non-syndromic v0.4519 HIST1H4E Paul De Fazio gene: HIST1H4E was added
gene: HIST1H4E was added to Intellectual disability syndromic and non-syndromic. 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
Intellectual disability syndromic and non-syndromic v0.4519 NRCAM Ee Ming Wong gene: NRCAM was added
gene: NRCAM was added to Intellectual disability syndromic and non-syndromic. 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 v0.11107 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
Intellectual disability syndromic and non-syndromic v0.4519 HIST1H4D Paul De Fazio gene: HIST1H4D was added
gene: HIST1H4D was added to Intellectual disability syndromic and non-syndromic. 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 langauge 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 v0.11105 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).
Macrocephaly_Megalencephaly v0.100 ZBTB7A Daniel Flanagan gene: ZBTB7A was added
gene: ZBTB7A was added to Macrocephaly_Megalencephaly. 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
Intellectual disability syndromic and non-syndromic v0.4519 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Intellectual disability syndromic and non-syndromic. 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
Intellectual disability syndromic and non-syndromic v0.4519 ZBTB7A Daniel Flanagan gene: ZBTB7A was added
gene: ZBTB7A was added to Intellectual disability syndromic and non-syndromic. 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 v0.11103 AL117258.1 Zornitza Stark Tag new gene name tag was added to gene: AL117258.1.
Intellectual disability syndromic and non-syndromic v0.4519 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, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mitochondrial disease v0.701 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Mitochondrial disease. 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 v0.11103 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).
Intellectual disability syndromic and non-syndromic v0.4519 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Intellectual disability syndromic and non-syndromic v0.4519 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4519 HIST1H4F Zornitza Stark Phenotypes for gene: HIST1H4F were changed from Neurodevelopmental disorders to Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related
Mendeliome v0.11100 NRCAM Alison Yeung Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, NRCAM-related, MONDO:0700092
Intellectual disability syndromic and non-syndromic v0.4518 HIST1H4F Zornitza Stark Classified gene: HIST1H4F as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4518 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4517 HIST1H4F Elena Savva edited their review of gene: HIST1H4F: 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; Changed rating: AMBER
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
Intellectual disability syndromic and non-syndromic v0.4517 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).
Ataxia v0.326 ATP6V0A1 Zornitza Stark Marked gene: ATP6V0A1 as ready
Ataxia v0.326 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 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).
Ataxia v0.326 ATP6V0A1 Zornitza Stark Classified gene: ATP6V0A1 as Green List (high evidence)
Ataxia v0.326 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.120 Zornitza Stark removed gene:HIST1H4I from the panel
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
Intellectual disability syndromic and non-syndromic v0.4517 HIST1H4F Elena Savva gene: HIST1H4F was added
gene: HIST1H4F was added to Intellectual disability syndromic and non-syndromic. 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 GREEN
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
Intellectual disability syndromic and non-syndromic v0.4517 HIST1H4I Zornitza Stark Marked gene: HIST1H4I as ready
Intellectual disability syndromic and non-syndromic v0.4517 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4517 HIST1H4I Zornitza Stark Phenotypes for gene: HIST1H4I were changed from Neurodevelopmental syndrome to Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related
Intellectual disability syndromic and non-syndromic v0.4516 HIST1H4I Zornitza Stark Classified gene: HIST1H4I as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4516 HIST1H4I Zornitza Stark Gene: hist1h4i has been classified as Green List (High Evidence).
Mendeliome v0.11097 NAV2 Alison Yeung Classified gene: NAV2 as Amber List (moderate evidence)