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Mendeliome v1.4295 PTPRF Bryony Thompson gene: PTPRF was added
gene: PTPRF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRF were set to 24781087
Phenotypes for gene: PTPRF were set to breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0014450
Review for gene: PTPRF was set to RED
Added comment: A single consanguineous family with a homozygous variant
Sources: Literature
Incidentalome v0.422 PLA2G2A Bryony Thompson gene: PLA2G2A was added
gene: PLA2G2A was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: PLA2G2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G2A were set to 9272153; 8912789
Phenotypes for gene: PLA2G2A were set to colorectal cancer MONDO:0005575
Review for gene: PLA2G2A was set to RED
Added comment: Single case reported with a frameshift variant (c.144_145del) that has 61 hets present in gnomAD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.666 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.666 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Autism v0.245 PRODH Krithika Murali Phenotypes for gene: PRODH were changed from to hyperprolinemia type 1 - MONDO:0009400
Autism v0.245 PRODH Krithika Murali Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.245 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Autism v0.245 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Autism v0.244 PRODH Krithika Murali Marked gene: PRODH as ready
Autism v0.244 PRODH Krithika Murali Gene: prodh has been classified as Green List (High Evidence).
Genetic Epilepsy v1.377 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.377 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.377 PRODH Krithika Murali Publications for gene: PRODH were set to 17412540; 12217952
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.375 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.665 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.244 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4294 Bryony Thompson Copied gene MYL4 from panel Atrial Fibrillation
Mendeliome v1.4294 MYL4 Bryony Thompson gene: MYL4 was added
gene: MYL4 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL4 were set to 27742809; 27066836; 29080865
Phenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001
Atrial Fibrillation v1.6 MYL4 Bryony Thompson Classified gene: MYL4 as Amber List (moderate evidence)
Atrial Fibrillation v1.6 MYL4 Bryony Thompson Gene: myl4 has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v1.5 MYL4 Bryony Thompson gene: MYL4 was added
gene: MYL4 was added to Atrial Fibrillation. Sources: Literature
Mode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL4 were set to 27742809; 27066836; 29080865
Phenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001
Review for gene: MYL4 was set to AMBER
Added comment: PMID: 27742809 - MYL4 c.234delC identified homozygous in 8 cases from 5 families with early-onset atrial fibrillation in the Icelandic population. Heterozygous individuals were apparently unaffected.
PMID: 27066836 - heterozygous MYL4 p.Glu11Lys segregates with early-onset atrial fibrillation in a single family. Zebrafish model of the variant (E17K) recapitulated atrial fibrillation.
PMID: 29080865 - rat knock-in model MYL4p.E11K induced fibrotic atrial cardiomyopathy
Sources: Literature
Mendeliome v1.4293 CTSO Rylee Peters gene: CTSO was added
gene: CTSO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTSO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTSO were set to 41508845
Phenotypes for gene: CTSO were set to Brain aneurysm, MONDO:0005291, CTSO-related
Review for gene: CTSO was set to RED
Added comment: PMID:41508845 reports 9 individuals from 2 unrelated families with heterozygous missense CTSO variants presenting with familial intracranial aneurysm; an additional 8 relatives were heterozygous for a CTSO variant but had no intracranial aneurysm; 16 unaffected relatives did not have a CTSO variant. The two missense variants identified in these families are present in gnomAD v4, p.(Val316Ile) with 84 hets, p.(Ala43Val) with 683 hets, 1 hom.

In‑vitro VSMC knock‑down and mutant‑expression assays showed reduced CTSO secretion, increased fibronectin deposition, increased cell stiffness; but a causal relationship between CTSO variants and intracranial aneurysm has not been demonstrated in an in‑vivo model
Sources: Literature
Mendeliome v1.4292 CELSR1 Rylee Peters changed review comment from: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319

GREEN rating for biallelic neurodevelopmental disorder association:
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.
PMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.; to: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319

GREEN rating for biallelic neurodevelopmental disorder association:
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.
PMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Intellectual disability syndromic and non-syndromic v1.665 CELSR1 Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.375 CELSR1 Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Classified gene: CELSR1 as Green List (high evidence)
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.374 CELSR1 Rylee Peters gene: CELSR1 was added
gene: CELSR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR1 were set to 41530147; 36453712
Phenotypes for gene: CELSR1 were set to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related
Review for gene: CELSR1 was set to GREEN
Added comment: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.665 CELSR1 Rylee Peters Phenotypes for gene: CELSR1 were changed from to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters changed review comment from: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association
PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters Classified gene: CELSR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.664 CELSR1 Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.663 CELSR1 Rylee Peters gene: CELSR1 was added
gene: CELSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR1 were set to 41530147; 36453712
Review for gene: CELSR1 was set to GREEN
Added comment: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Mendeliome v1.4292 CELSR1 Rylee Peters Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, MIM# 619319 to Lymphatic malformation 9 (MIM#619319); Neurodevelopmental disorder, MONDO:0700092, CELSR1-related
Mendeliome v1.4291 CELSR1 Rylee Peters Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Mendeliome v1.4290 CELSR1 Rylee Peters Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4289 CELSR1 Rylee Peters reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26855770, 31215153, 31403174, 36453712, 38272662, 41530147; Phenotypes: Lymphatic malformation 9 (MIM#619319), Neurodevelopmental disorder, MONDO:0700092, CELSR1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4289 GPD2 Bryony Thompson Marked gene: GPD2 as ready
Mendeliome v1.4289 GPD2 Bryony Thompson Gene: gpd2 has been classified as Red List (Low Evidence).
Mendeliome v1.4289 GPD2 Bryony Thompson gene: GPD2 was added
gene: GPD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPD2 were set to 9070847; 12093800
Phenotypes for gene: GPD2 were set to type 2 diabetes mellitus MONDO:0005148
Review for gene: GPD2 was set to RED
Added comment: Single case with abnormally low activity of mitochondrial GDH and a rare missense variant. Knockout mouse model has features of both glycerol kinase deficiency and hereditary fructose intolerance.
Sources: Literature
Genetic Epilepsy v1.373 Bryony Thompson Copied gene GAL from panel Mendeliome
Genetic Epilepsy v1.373 GAL Bryony Thompson gene: GAL was added
gene: GAL was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAL were set to 25691535
Phenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650
Mendeliome v1.4288 GAL Bryony Thompson gene: GAL was added
gene: GAL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAL were set to 25691535
Phenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650
Review for gene: GAL was set to RED
Added comment: 2 monozygotic male twins with familial temporal lobe epilepsy with a de novo heterozygous missense variant (p.A39E). In vitro functional assay showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.403 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.403 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.402 PROK2 Zornitza Stark Classified gene: PROK2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.402 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.401 KISS1R Zornitza Stark Classified gene: KISS1R as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.401 KISS1R Zornitza Stark Gene: kiss1r has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.400 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.400 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.399 FGF8 Zornitza Stark Classified gene: FGF8 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.399 FGF8 Zornitza Stark Gene: fgf8 has been classified as Red List (Low Evidence).
Mendeliome v1.4287 RUNDC1 Zornitza Stark Marked gene: RUNDC1 as ready
Mendeliome v1.4287 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4287 RUNDC1 Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence)
Mendeliome v1.4287 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4286 RUNDC1 Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Marked gene: RUNDC1 as ready
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.175 RUNDC1 Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.174 RUNDC1 Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Marked Region: ISCA-46303-Loss as ready
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Region: isca-46303-loss has been classified as Green List (High Evidence).
Differences of Sex Development v1.41 ISCA-46303-Loss Zornitza Stark Phenotypes for Region: ISCA-46303-Loss were changed from to 46XY sex reversal 10, MIM# 616425; 46XX sex reversal 2, MIM# 278850; Pierre-Robin sequence MONDO:0009869, SOX9-related
Differences of Sex Development v1.40 ISCA-46303-Loss Zornitza Stark Classified Region: ISCA-46303-Loss as Green List (high evidence)
Differences of Sex Development v1.40 ISCA-46303-Loss Zornitza Stark Region: isca-46303-loss has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Marked gene: TYMP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 TYMP Zornitza Stark Classified gene: TYMP as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 TYMP Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 TYMP Zornitza Stark reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Marked gene: WDR11 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Classified gene: WDR11 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 WDR11 Zornitza Stark Gene: wdr11 has been classified as Red List (Low Evidence).
Red cell disorders v1.43 STEAP3 Zornitza Stark changed review comment from: Single family reported only with (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.

Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes; to: Single family reported only with heterozygous (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.

Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark Marked gene: TTBK1 as ready
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark Gene: ttbk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.662 Zornitza Stark Copied gene TTBK1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.662 TTBK1 Zornitza Stark gene: TTBK1 was added
gene: TTBK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTBK1 were set to 41545183
Phenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.4286 TTBK1 Zornitza Stark Marked gene: TTBK1 as ready
Mendeliome v1.4286 TTBK1 Zornitza Stark Gene: ttbk1 has been classified as Red List (Low Evidence).
Mendeliome v1.4286 TTBK1 Zornitza Stark gene: TTBK1 was added
gene: TTBK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTBK1 were set to 41545183
Phenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: TTBK1 was set to RED
Added comment: PMID 41545183 reports 2 individuals from a single family with biallelic loss-of-function frameshift variant (p.Thr634ArgfsTer39) presenting with a severe syndromic neurodevelopmental disorder characterized by global developmental delay, microcephaly, progressive spasticity, non‑ambulatory status, and seizures in the older sibling. No functional studies were performed.
Sources: Literature
Mendeliome v1.4285 Zornitza Stark Copied gene C12orf40 from panel Infertility and Recurrent Pregnancy Loss
Mendeliome v1.4285 C12orf40 Zornitza Stark gene: C12orf40 was added
gene: C12orf40 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf40 were set to 41580510; 37612290; 37604834
Phenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related
Infertility and Recurrent Pregnancy Loss v1.81 C12orf40 Zornitza Stark Classified gene: C12orf40 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.81 C12orf40 Zornitza Stark Gene: c12orf40 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.80 C12orf40 Zornitza Stark gene: C12orf40 was added
gene: C12orf40 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf40 were set to 41580510; 37612290; 37604834
Phenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related
Review for gene: C12orf40 was set to GREEN
Added comment: PMID 37604834, 37612290 and 41580510 report a total of 8 individuals from 6 unrelated families with biallelic loss-of-function C12ORF40 variants presenting with severe male infertility due to spermatogenic failure (non‑obstructive azoospermia or severe oligoasthenoteratozoospermia). Affected men have normal hormone levels but exhibit meiotic arrest or markedly increased sperm sex‑chromosome aneuploidy. Mouse knockout and knock‑in models recapitulate the infertility phenotype, and in vitro assays demonstrate loss of nucleic‑acid binding activity, supporting pathogenicity.
Sources: Literature
Cataract v0.626 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Cataract v0.626 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Cataract v0.626 ZEB2 Zornitza Stark Classified gene: ZEB2 as Amber List (moderate evidence)
Cataract v0.626 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Cataract v0.625 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB2 were set to 36676725; 25899569
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, MIM# 235730
Review for gene: ZEB2 was set to AMBER
Added comment: PMID 25899569 reports four unrelated families with heterozygous loss‑of‑function ZEB2 variants causing Mowat‑Wilson syndrome; one of these families had cataract. PMID 36676725 reports one unrelated family with a de novo nonsense ZEB2 variant presenting with bilateral developmental cataract as part of Mowat‑Wilson syndrome.
Sources: Literature
Cataract v0.624 VCAN Zornitza Stark Marked gene: VCAN as ready
Cataract v0.624 VCAN Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence).
Cataract v0.624 VCAN Zornitza Stark Classified gene: VCAN as Amber List (moderate evidence)
Cataract v0.624 VCAN Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence).
Cataract v0.623 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to Cataract. Sources: Literature
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VCAN were set to 36333947; 29071374
Phenotypes for gene: VCAN were set to Wagner syndrome 1, MIM# 143200
Review for gene: VCAN was set to AMBER
Added comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment).
Sources: Literature
Fetal anomalies v1.527 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Fetal anomalies v1.526 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Mendeliome v1.4284 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Mendeliome v1.4283 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Craniosynostosis v1.75 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Craniosynostosis v1.74 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Congenital Heart Defect v0.524 DHRS3 Zornitza Stark Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499
Congenital Heart Defect v0.523 DHRS3 Zornitza Stark edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.411 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Microcephaly v1.411 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.411 Chirag Patel Copied gene TMEM189 from panel Mendeliome
Microcephaly v1.411 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Intellectual disability syndromic and non-syndromic v1.661 Chirag Patel Copied gene TMEM189 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.661 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Mendeliome v1.4283 TMEM189 Chirag Patel Marked gene: TMEM189 as ready
Mendeliome v1.4283 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4283 TMEM189 Chirag Patel Classified gene: TMEM189 as Amber List (moderate evidence)
Mendeliome v1.4283 TMEM189 Chirag Patel Gene: tmem189 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4282 TMEM189 Chirag Patel gene: TMEM189 was added
gene: TMEM189 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM189 were set to 41491239
Phenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related
Review for gene: TMEM189 was set to AMBER
Added comment: 2 individuals from 2 unrelated consanguineous families presenting with microcephaly, global developmental delay, growth retardation, dysmorphic facial features and congenital cataracts (in one case). Both individuals had the same rare homozygous frameshift variant (c.104delC, p.Ala35Valfs*16) in PEDS1 gene (aka TMEM189). The variant segregated in the family. PEDS1 encodes the plasmanylethanolamine desaturase that catalyzes the final step of plasmalogen biosynthesis. Functional studies show the mutant protein is unstable and undetectable in COS7 cells, and mouse Peds1‑/‑ knockouts display microcephaly and neuroanatomical defects mirroring the human phenotype. Rescue of neuronal migration deficits by RNAi‑resistant wild‑type PEDS1 confirms loss‑of‑function as the disease mechanism.
Sources: Literature
Incidentalome v0.421 Bryony Thompson Copied gene DLST from panel Paraganglioma_phaeochromocytoma
Incidentalome v0.421 DLST Bryony Thompson gene: DLST was added
gene: DLST was added to Incidentalome. Sources: Expert Review Red,Literature,Expert Review,Expert list
Mode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLST were set to PMID: 30929736, 33180916
Phenotypes for gene: DLST were set to Paragangliomas 7, MONDO:0032771; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 7, MIM#618475
Cataract v0.622 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Cataract v0.622 TENM3 Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.622 TENM3 Zornitza Stark Classified gene: TENM3 as Amber List (moderate evidence)
Cataract v0.622 TENM3 Zornitza Stark Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.621 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 36911040; 32799327
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM# 615145
Review for gene: TENM3 was set to AMBER
Added comment: PMID 32799327 reports a family with a homozygous nonsense TENM3 variant causing congenital cataract, microphthalmia and coloboma. PMID 36911040 reports 2 unrelated families with biallelic TENM3 variants; family 1 has congenital cataract, microphthalmia, microcephaly and developmental delay, family 2 has esotropia with speech and motor delay.
Sources: Literature
Cataract v0.620 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Cataract v0.620 SIX6 Zornitza Stark Gene: six6 has been classified as Amber List (Moderate Evidence).
Cataract v0.620 SIX6 Zornitza Stark Classified gene: SIX6 as Amber List (moderate evidence)
Cataract v0.620 SIX6 Zornitza Stark Gene: six6 has been classified as Amber List (Moderate Evidence).
Cataract v0.619 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Cataract. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIX6 were set to 35693420
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Review for gene: SIX6 was set to AMBER
Added comment: PMID 35693420 reports four individuals from two unrelated consanguineous families with biallelic SIX6 variants (c.547G>C p.Asp183His missense; c.-227_572+235del1034 exon‑1 deletion) presenting with congenital cataract, microcornea, corneal opacification and variable iris coloboma or microphthalmia. The variants segregate with disease, are absent from population databases, and in silico structural modelling predicts loss‑of‑function.
Sources: Literature
Cataract v0.618 MFRP Zornitza Stark Marked gene: MFRP as ready
Cataract v0.618 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Cataract v0.618 MFRP Zornitza Stark Classified gene: MFRP as Amber List (moderate evidence)
Cataract v0.618 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Cataract v0.617 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Cataract. Sources: Literature
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFRP were set to 36605040
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040
Review for gene: MFRP was set to AMBER
Added comment: PMID 36605040 reports 2 individuals from 2 unrelated families with biallelic canonical splice-site MFRP variants presenting with nanophthalmos, high hyperopia, retinitis pigmentosa, and early-onset cataract (nuclear sclerotic).
Sources: Literature
Cataract v0.616 MAFA Zornitza Stark Marked gene: MAFA as ready
Cataract v0.616 MAFA Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence).
Cataract v0.616 MAFA Zornitza Stark Classified gene: MAFA as Amber List (moderate evidence)
Cataract v0.616 MAFA Zornitza Stark Gene: mafa has been classified as Amber List (Moderate Evidence).
Cataract v0.615 MAFA Zornitza Stark gene: MAFA was added
gene: MAFA was added to Cataract. Sources: Literature
Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAFA were set to 29339498
Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, MIM# 147630
Review for gene: MAFA was set to AMBER
Added comment: PMID 29339498 reports a heterozygous MAFA p.Ser64Phe gain‑of‑function missense variant in two unrelated families with autosomal dominant insulinomatosis/diabetes and in the index family four individuals with congenital cataract (±glaucoma).
Sources: Literature
Mendeliome v1.4281 LRPAP1 Bryony Thompson Marked gene: LRPAP1 as ready
Mendeliome v1.4281 LRPAP1 Bryony Thompson Gene: lrpap1 has been classified as Green List (High Evidence).
Mendeliome v1.4281 LRPAP1 Bryony Thompson Classified gene: LRPAP1 as Green List (high evidence)
Mendeliome v1.4281 LRPAP1 Bryony Thompson Gene: lrpap1 has been classified as Green List (High Evidence).
Mendeliome v1.4280 LRPAP1 Bryony Thompson gene: LRPAP1 was added
gene: LRPAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPAP1 were set to 23830514; 25525168; 36261846; 39444998
Phenotypes for gene: LRPAP1 were set to myopia 23, autosomal recessive MONDO:0014183
Review for gene: LRPAP1 was set to GREEN
Added comment: At least 4 families reported with homozygous variants, and a supporting zebrafish model
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.79 Bryony Thompson Copied gene ACR from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.79 ACR Bryony Thompson gene: ACR was added
gene: ACR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACR were set to 37004249
Phenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983
Mendeliome v1.4279 ACR Bryony Thompson Marked gene: ACR as ready
Mendeliome v1.4279 ACR Bryony Thompson Gene: acr has been classified as Red List (Low Evidence).
Mendeliome v1.4279 ACR Bryony Thompson gene: ACR was added
gene: ACR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACR were set to 37004249
Phenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983
Review for gene: ACR was set to RED
Added comment: A single consanguineous family reported with a homozygous stopgain variant (c.167G>A, p.Trp56*) and supporting in vitro assay.
Sources: Literature
Differences of Sex Development v1.39 Sarah Milton Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes
Differences of Sex Development v1.39 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Differences of Sex Development. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Cataract v0.614 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Cataract v0.614 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Cataract v0.614 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Cataract v0.614 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Cataract v0.613 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JAG1 were set to 40257159; 37337769; 32883240
Phenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM# 118450
Review for gene: JAG1 was set to GREEN
Added comment: Cataract is a recognised feature of the condition.
Sources: Literature
Cataract v0.612 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Cataract v0.612 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Cataract v0.612 DYNC1H1 Zornitza Stark Classified gene: DYNC1H1 as Amber List (moderate evidence)
Cataract v0.612 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Cataract v0.611 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 27754416; 27331017
Phenotypes for gene: DYNC1H1 were set to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Review for gene: DYNC1H1 was set to AMBER
Added comment: PMID 27331017 reports 1 individual with a de novo heterozygous missense DYNC1H1 variant (p.G3658E) presenting with severe malformation of cortical development and bilateral congenital cataract. PMID 27754416 reports a second individual with a de novo heterozygous missense DYNC1H1 variant (p.R2332C) presenting with congenital cataracts, polymicrogyria, developmental delay, gut dysmotility and sensory neuropathy.
Sources: Literature
Cataract v0.610 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Cataract v0.610 CWC27 Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence).
Cataract v0.610 CWC27 Zornitza Stark Classified gene: CWC27 as Amber List (moderate evidence)
Cataract v0.610 CWC27 Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence).
Cataract v0.609 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 38840272; 31481716
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Review for gene: CWC27 was set to AMBER
Added comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism).
Sources: Literature
Cataract v0.608 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Cataract v0.608 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence).
Cataract v0.608 ARCN1 Zornitza Stark Classified gene: ARCN1 as Amber List (moderate evidence)
Cataract v0.608 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence).
Cataract v0.607 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ARCN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARCN1 were set to 35300924
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Review for gene: ARCN1 was set to AMBER
Added comment: PMID 35300924 reports 4 individuals from 2 unrelated families with biallelic loss-of-function ARCN1 variants presenting with cataract (onset infancy to early adolescence) as part of ARCN1‑related syndrome.
Sources: Literature
Regression v0.604 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Regression v0.604 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Regression v0.604 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to 29893856
Regression v0.603 ZBTB11 Zornitza Stark changed review comment from: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.; to: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.

Regression is part of the phenotype.
Regression v0.603 Zornitza Stark Copied gene ZBTB11 from panel Mendeliome
Regression v0.603 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Regression. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 29893856
Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383
Cataract v0.606 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Cataract v0.606 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Cataract v0.606 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Green List (high evidence)
Cataract v0.606 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence).
Cataract v0.605 ZBTB11 Zornitza Stark gene: ZBTB11 was added
gene: ZBTB11 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 38899514
Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, MIM# 618383
Review for gene: ZBTB11 was set to GREEN
Added comment: PMID 38899514 reports 29 individuals from 17 unrelated families with biallelic ZBTB11 variants. All affected have neurodevelopmental delay/intellectual disability; 10 patients present with bilateral cataracts.
Sources: Literature
Cataract v0.604 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Cataract v0.604 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.604 VPS13B Zornitza Stark Classified gene: VPS13B as Green List (high evidence)
Cataract v0.604 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.603 VPS13B Zornitza Stark Classified gene: VPS13B as Green List (high evidence)
Cataract v0.603 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Cataract v0.602 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Cataract. Sources: Literature
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 40813981; 37901634; 32915983
Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM# 216550
Review for gene: VPS13B was set to GREEN
Added comment: PMID 32915983 reports two adult siblings with Cohen syndrome and bilateral nuclear‑sclerotic cataracts; PMID 37901634 reports a 39‑year‑old male with Cohen syndrome, early adult‑onset cataract and two novel VPS13B variants (c.5138T>C missense, c.10179del frameshift); PMID 40813981 reports a 24‑year‑old male with Cohen syndrome, bilateral cataract, spherical lenses, lens subluxation and retinitis pigmentosa carrying a homozygous splice‑site VPS13B variant (c.6865+1G>T). Functional mouse knockout models (Vps13bΔEx3/ΔEx3) develop early‑onset hypermature cataracts, supporting a causal link.
Sources: Literature
Cataract v0.601 USP9X Zornitza Stark Marked gene: USP9X as ready
Cataract v0.601 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Cataract v0.601 USP9X Zornitza Stark Classified gene: USP9X as Green List (high evidence)
Cataract v0.601 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Cataract v0.600 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Cataract. Sources: Literature
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: USP9X were set to 38099911; 37895297
Phenotypes for gene: USP9X were set to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM# 300968
Review for gene: USP9X was set to GREEN
Added comment: PMID 37895297 reports three unrelated female families with heterozygous loss‑of‑function USP9X variants (splice c.1314+2T>C, nonsense c.121G>T, frameshift c.1603dupA) presenting with Axenfeld–Rieger anomaly, congenital glaucoma, corneal neovascularization and cataract (two cases). PMID 38099911 reports an additional unrelated family with a heterozygous USP9X c.799_802del deletion causing bilateral cataracts, posterior lentiglobus and multiple systemic anomalies.
Sources: Literature
Mendeliome v1.4278 FGF10 Bryony Thompson Deleted their comment
Mendeliome v1.4278 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson Deleted their comment
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson changed review comment from: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.
Cataract v0.599 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Cataract v0.599 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Cataract v0.599 TRNT1 Zornitza Stark Classified gene: TRNT1 as Green List (high evidence)
Cataract v0.599 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Cataract v0.598 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 36937953; 34864912; 27389523
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Review for gene: TRNT1 was set to GREEN
Added comment: PMID 27389523 reports three affected siblings from one family with childhood cataract, inner retinal dysfunction, immunodeficiency and a homozygous missense TRNT1 p.Arg99Trp variant. PMID 34864912 describes a 49‑year‑old male with congenital cataract, recurrent infections, B‑cell immunodeficiency, periodic fevers and hypergonadotropic hypogonadism carrying the same homozygous p.Arg99Trp variant. PMID 36937953 presents three unrelated patients from two families with sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, developmental delay and bilateral cataracts caused by compound heterozygous TRNT1 variants (c.1246A>G/p.K416E, c.1056+1G>A, c.574C>T/p.Q192*, c.464T>C/p.I155T). Across the three papers there are seven patients from four unrelated families with biallelic loss‑of‑function TRNT1 variants and a consistent phenotype that includes cataract.
Sources: Literature
Cataract v0.597 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Cataract v0.597 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Cataract v0.597 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence)
Cataract v0.597 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Cataract v0.596 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 34648194; 26322222
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
Review for gene: TRAPPC11 was set to GREEN
Added comment: PMID 26322222 and PMID 34648194 together describe five individuals from five unrelated families with biallelic loss‑of‑function TRAPPC11 variants. The affected individuals present with congenital/early‑onset muscular dystrophy, infantile‑onset cataract, markedly elevated CK, and multisystem involvement (fatty liver in one family and severe α‑dystroglycan hypoglycosylation in muscle).
Sources: Literature
Cataract v0.595 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Cataract v0.595 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cataract v0.595 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Cataract v0.595 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Cataract v0.594 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 32055997; 30723199
Phenotypes for gene: TOR1AIP1 were set to Syndromic disease, MONDO:0002254, TOR1AIP1-related
Review for gene: TOR1AIP1 was set to GREEN
Added comment: PMID 30723199 reports 7 individuals from 5 unrelated families with biallelic nonsense TOR1AIP1 (c.961C>T) variants presenting with congenital bilateral cataract, severe neurodevelopmental impairment, intra‑uterine growth retardation, microcephaly, sensorineural deafness and cardiac defects. PMID 32055997 adds 2 unrelated individuals from 2 families carrying compound‑heterozygous loss‑of‑function TOR1AIP1 variants (frameshift + missense or nonsense + frameshift) with a closely overlapping multisystemic phenotype that also includes cataract, hearing loss, cardiac disease and muscular atrophy.

Note gene has been associated with multiple phenotypes, predominantly muscle-related; described as 'envelopathy' in some papers.
Sources: Literature
Cataract v0.593 TONSL Zornitza Stark Marked gene: TONSL as ready
Cataract v0.593 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Cataract v0.593 TONSL Zornitza Stark Classified gene: TONSL as Green List (high evidence)
Cataract v0.593 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Cataract v0.592 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Cataract. Sources: Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510
Review for gene: TONSL was set to GREEN
Added comment: PMID 30773277 reports 9 individuals from 8 unrelated families with bi‑allelic TONSL variants causing Sponastrime dysplasia, a skeletal dysplasia characterised by disproportionate short stature, platyspondyly, metaphyseal striations and, in three families, childhood bilateral cataracts.
Sources: Literature
Cataract v0.591 TKT Zornitza Stark Marked gene: TKT as ready
Cataract v0.591 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Cataract v0.591 TKT Zornitza Stark Classified gene: TKT as Green List (high evidence)
Cataract v0.591 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Cataract v0.590 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Cataract. Sources: Literature
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, MIM# 617044
Review for gene: TKT was set to GREEN
Added comment: Cataracts are reported as part of this condition.
Sources: Literature
Cataract v0.589 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Cataract v0.589 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Cataract v0.589 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Cataract v0.589 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Cataract v0.588 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 37215500; 36797513; 28944240
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM# 616954
Review for gene: TELO2 was set to GREEN
Added comment: Multiple individuals reported with cataract as part of the phenotype.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: Other
Mendeliome v1.4278 SLC7A8 Zornitza Stark Marked gene: SLC7A8 as ready
Mendeliome v1.4278 SLC7A8 Zornitza Stark Gene: slc7a8 has been classified as Red List (Low Evidence).
Mendeliome v1.4278 Zornitza Stark Copied gene SLC7A8 from panel Cataract
Mendeliome v1.4278 SLC7A8 Zornitza Stark gene: SLC7A8 was added
gene: SLC7A8 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A8 were set to 40229141; 31231240
Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related
Cataract v0.587 SLC7A8 Zornitza Stark Marked gene: SLC7A8 as ready
Cataract v0.587 SLC7A8 Zornitza Stark Gene: slc7a8 has been classified as Red List (Low Evidence).
Cataract v0.587 SLC7A8 Zornitza Stark gene: SLC7A8 was added
gene: SLC7A8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A8 were set to 40229141; 31231240
Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related
Review for gene: SLC7A8 was set to RED
Added comment: PMID 31231240 reports 2 affected siblings with autosomal recessive congenital bilateral sutural and zonular cataract caused by a homozygous frameshift c.1305del (p.Phe436Serfs*22) that abolishes LAT2 transport activity in HeLa cells. PMID 40229141 reports a single child from an unrelated family with compound heterozygous SLC7A8 variants (c.1017-1G>T splice-site and c.289G>A missense) and cataract; a minigene assay shows exon skipping for the splice variant. No other functional data, one of the variants is homozygous, hence RED rating.
Sources: Literature
Cataract v0.586 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Cataract v0.586 SEC23A Zornitza Stark Gene: sec23a has been classified as Green List (High Evidence).
Cataract v0.586 SEC23A Zornitza Stark Classified gene: SEC23A as Green List (high evidence)
Cataract v0.586 SEC23A Zornitza Stark Gene: sec23a has been classified as Green List (High Evidence).
Cataract v0.585 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Cataract. Sources: Literature
Mode of inheritance for gene: SEC23A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEC23A were set to 38275611; 37828500; 34580982
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, MIM# 607812
Review for gene: SEC23A was set to GREEN
Added comment: Cataracts are reported in individuals with both dominant and recessive disease, but appear more common in recessive disease.
Sources: Literature
Mendeliome v1.4277 RRAGA Zornitza Stark Marked gene: RRAGA as ready
Mendeliome v1.4277 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4277 Zornitza Stark Copied gene RRAGA from panel Cataract
Mendeliome v1.4277 RRAGA Zornitza Stark gene: RRAGA was added
gene: RRAGA was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGA were set to 27294265
Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related
Cataract v0.584 RRAGA Zornitza Stark Marked gene: RRAGA as ready
Cataract v0.584 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Cataract v0.584 RRAGA Zornitza Stark Classified gene: RRAGA as Amber List (moderate evidence)
Cataract v0.584 RRAGA Zornitza Stark Gene: rraga has been classified as Amber List (Moderate Evidence).
Cataract v0.583 RRAGA Zornitza Stark gene: RRAGA was added
gene: RRAGA was added to Cataract. Sources: Literature
Mode of inheritance for gene: RRAGA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGA were set to 27294265
Phenotypes for gene: RRAGA were set to Cataract, MONDO:0005129, RRAGA-related
Review for gene: RRAGA was set to AMBER
Added comment: PMID 27294265 reports 11 individuals from 3 unrelated families with heterozygous RRAGA variants presenting with autosomal dominant cataracts (juvenile-onset progressive posterior subcapsular cataract in 10 patients from 2 families; congenital nuclear cataract in 1 patient). The missense p.Leu60Arg co‑segregates with disease (LOD 2.975) and activates mTORC1 signalling in lens epithelial cells; the 5′‑UTR c.-16G>A reduces promoter activity (~80%). The missense variant is present in one of the multiplex families and in an independent individual -- appears that the two families are not related and these are independent events.

Nevertheless, two variants only and no direct functional work to link to cataract pathogenesis, hence Amber rating.
Sources: Literature
Cataract v0.582 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Cataract v0.582 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Cataract v0.582 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Cataract v0.582 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Cataract v0.581 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 40485636; 37228773; 36164748; 33294214
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM# 268400
Review for gene: RECQL4 was set to GREEN
Added comment: Cataract is a feature of RTS.
Sources: Literature
Mendeliome v1.4276 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease type 4 MONDO:0018995 to Charcot-Marie-Tooth disease type 4 MONDO:0018995; Cataract, MONDO:0005129, PRX-related
Mendeliome v1.4275 PRX Zornitza Stark Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691
Mendeliome v1.4274 PRX Zornitza Stark edited their review of gene: PRX: Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism.; Changed publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691, 27081207, 36161833, 41230902; Changed phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900, Cataract, MONDO:0005129, PRX-related
Cataract v0.580 PRX Zornitza Stark Marked gene: PRX as ready
Cataract v0.580 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Cataract v0.580 PRX Zornitza Stark Classified gene: PRX as Green List (high evidence)
Cataract v0.580 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Cataract v0.579 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Cataract. Sources: Literature
Mode of inheritance for gene: PRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRX were set to 41230902; 36161833; 27081207
Phenotypes for gene: PRX were set to Cataract, MONDO:0005129, PRX-related
Review for gene: PRX was set to GREEN
Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism.
Sources: Literature
Pituitary hormone deficiency v0.174 RUNDC1 Lilian Downie gene: RUNDC1 was added
gene: RUNDC1 was added to Pituitary hormone deficiency. Sources: Other
Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies
Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay.
Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together)
Sources: Other
Mendeliome v1.4274 RUNDC1 Lilian Downie gene: RUNDC1 was added
gene: RUNDC1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies
Review for gene: RUNDC1 was set to AMBER
Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay.
Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together)
Sources: Other
Cataract v0.578 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cataract v0.578 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cataract v0.578 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cataract v0.578 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cataract v0.577 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 38137617; 28765568
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Review for gene: POMGNT1 was set to GREEN
Added comment: Cataracts are a feature of the more severe end of the spectrum of disease associated with this gene.
Sources: Literature
Cataract v0.576 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Cataract v0.576 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Cataract v0.576 PARK7 Zornitza Stark Classified gene: PARK7 as Green List (high evidence)
Cataract v0.576 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Cataract v0.575 PARK7 Zornitza Stark gene: PARK7 was added
gene: PARK7 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARK7 were set to 40127637; 31028127; 27460976
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset, MIM# 606324
Review for gene: PARK7 was set to GREEN
Added comment: PMID 27460976, 31028127 and 40127637 report a total of 3 individuals from 3 unrelated families with autosomal recessive PARK7 loss‑of‑function variants presenting with early‑onset Parkinson disease and bilateral cataracts (often accompanied by hearing loss and distal spinal amyotrophy). Functional studies in patient fibroblasts demonstrate reduced DJ‑1 protein and mitochondrial dysfunction.
Sources: Literature
Cataract v0.574 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Cataract v0.574 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Cataract v0.574 NOD2 Zornitza Stark Classified gene: NOD2 as Green List (high evidence)
Cataract v0.574 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Cataract v0.573 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOD2 were set to 38180755
Phenotypes for gene: NOD2 were set to Blau syndrome, MIM# 186580
Review for gene: NOD2 was set to GREEN
Added comment: PMID 38180755 reports 13 individuals from 3 unrelated families (plus 8 sporadic cases) with Blau syndrome caused by heterozygous gain‑of‑function NOD2 variants; 8 patients required cataract surgery.
Sources: Literature
Cataract v0.572 MVK Zornitza Stark Marked gene: MVK as ready
Cataract v0.572 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Cataract v0.572 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Cataract v0.572 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Cataract v0.571 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Cataract. Sources: Literature
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 33917151
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM# 610377
Review for gene: MVK was set to GREEN
Added comment: PMID 33917151 reports on a large cohort of individuals with MVK-related disease in an attempt to establish genotype-phenotype correlations. This includes 15 individuals with homozygous missense MVK variants (p.Leu264Phe, p.Ala334Thr) presenting with cataract. All seven patients homozygous for p.Leu264Phe had cataract and 13 of 15 cataract patients carried either p.Leu264Phe or p.Ala334Thr.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v1.38 Zornitza Stark Copied gene MT-TP from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.38 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Red,Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TP.
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Publications for gene: MT-TP were set to 7689388; 11196116; 19223931; 23696415; 19273760; 27536729; 27816331; 32305257; 32419253
Phenotypes for gene: MT-TP were set to Mitochondrial disease (MONDO:0044970), MT-TP-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 WDR11 Elena Tucker reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 FGF8 Elena Tucker reviewed gene: FGF8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 FGFR1 Elena Tucker reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 KISS1R Elena Tucker reviewed gene: KISS1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 PROK2 Elena Tucker reviewed gene: PROK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 SEMA3A Elena Tucker reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: PMID:22416012, 22927827, 32060892, 31200363, 33819414; Phenotypes: hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 TYMP Elena Tucker gene: TYMP was added
gene: TYMP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to PMID: 41163431; PMID: 35341481
Phenotypes for gene: TYMP were set to Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1
Penetrance for gene: TYMP were set to Complete
Review for gene: TYMP was set to AMBER
Added comment: Two independent cases of POI in the literature associated with pathogenic TYMP variants and MNGIE disease (and additionally, cases of hypergonadotropic hypogonadism in males). Mitochondrial depletion is a known mechanism for POI. POI can present before overt neurological involvement.
Sources: Literature
Genomic newborn screening: ICoNS v0.29 RPS19 Jorune Balciuniene changed review comment from: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
Sources: Expert Review; to: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
The standard of care is corticosteroid treatment, recommended in children at age 12 months or older, and red blood cell transfusions. The only curative therapy is bone marrow transplantation

Sources: Expert Review
Genomic newborn screening: ICoNS v0.29 RPS19 Jorune Balciuniene gene: RPS19 was added
gene: RPS19 was added to Genomic newborn screening: ICoNS. Sources: Expert Review
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 20301769; 30503522
Phenotypes for gene: RPS19 were set to Diamond-Blackfan Anemia
Review for gene: RPS19 was set to GREEN
Added comment: Well established gene-disease association.
Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity
Sources: Expert Review
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Classified gene: ZAP70 as Green List (high evidence)
Genomic newborn screening: ICoNS v0.29 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: ICoNS v0.28 ZAP70 Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: ICoNS v0.28 ZAP70 Lilian Downie gene: ZAP70 was added
gene: ZAP70 was added to Genomic newborn screening: ICoNS. Sources: Expert List
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAP70 were set to PMID: 20301777; 32579701
Phenotypes for gene: ZAP70 were set to Immunodeficiency MIM#176947
Review for gene: ZAP70 was set to GREEN
Added comment: • Gene disease association evidence
• Curation by ClinGen
• Treatability and evidence behind that including impact of treatment
• Issues with genomic screening (exome/genome/pseudogene etc)
• Any variants of interest
• Who has excluded it and why
• Traditional newborn screening in any jurisdiction


Strong gene disease association: definitive by ClinGen 2022

Immunodeficiency characterized by selective T-cell defect

Childhood onset, severe (death prior to 2 without treatment)

Treatment:
Supportive care includes immediate intravenous immunoglobulin (IVIG) and antibacterial, antifungal, antiviral, and Pneumocystis jiroveci prophylaxis to control and reduce the occurrence of infections.
Allogeneic HSCT to reconstitute the immune system, preferably prior to the onset of infections.
Prevention of secondary complications: Use of irradiated, leukoreduced, cytomegalovirus (CMV)-safe blood products; deferment of immunizations until immune reconstitution; consideration for formula feeds in place of breast feeding until CMV status of mother is known.

Symptoms include recurrent infections, including severe lower respiratory infections and oral candidiasis, chronic diarrhea, and failure to thrive. Combined immunodeficiencies such as ZAP-70 deficiency or major histocompatibility complex (MHC) class I and II gene expression deficiency may not be detected with the TREC assay as T-cell development is intact beyond the point of T-cell receptor (TCR) gene recombination (PMID: 32579701)

Excluded by BeginNGS? treatability ?now included (on Rx Genes)
Sources: Expert List
Mendeliome v1.4273 SCAMP5 Lucy Spencer Phenotypes for gene: SCAMP5 were changed from Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related; Epilepsy (MONDO:0005027), SCAMP5-related
Mendeliome v1.4272 SCAMP5 Lucy Spencer Publications for gene: SCAMP5 were set to 31439720; 33390987
Mendeliome v1.4271 SCAMP5 Lucy Spencer Mode of inheritance for gene: SCAMP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4270 SCAMP5 Lucy Spencer reviewed gene: SCAMP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 32020363; Phenotypes: Epilepsy (MONDO:0005027), SCAMP5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel v9.170 Bryony Thompson Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulopathies and related disorders; Hypertension and Aldosterone disorders; Renal Tubulointerstitial Disease; Haematuria_Alport; Amyloidosis; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT); Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN
Cataract v0.570 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Cataract v0.570 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Cataract v0.570 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Cataract v0.570 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Cataract v0.569 MBTPS1 Zornitza Stark gene: MBTPS1 was added
gene: MBTPS1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 38337829; 38135440; 36714646; 35362222; 32420688
Phenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM# 621252; Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM# 618392
Review for gene: MBTPS1 was set to GREEN
Added comment: PMID 32420688, 35362222, 36714646, 38135440 and 38337829 collectively report six unrelated families with biallelic loss‑of‑function MBTPS1 variants causing (i) a spondyloepimetaphyseal/spondyloepiphyseal dysplasia with congenital cataract, (ii) CAOP syndrome (cataract, alopecia, oral mucosal disorder, psoriasis‑like skin disease).
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.6 Bryony Thompson Added reviews for gene FGF10 from panel Mendeliome
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4270 FGF10 Bryony Thompson changed review comment from: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4270 FGF10 Bryony Thompson edited their review of gene: FGF10: Added comment: 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; Changed rating: AMBER; Changed publications: 30639323; Changed phenotypes: Familial primary pulmonary hypoplasia, MONDO:0009936; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4270 Bryony Thompson Copied gene RPL23 from panel Haematological malignancies
Mendeliome v1.4270 RPL23 Bryony Thompson gene: RPL23 was added
gene: RPL23 was added to Mendeliome. Sources: Expert Review Red,Curated sources
Mode of inheritance for gene: RPL23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL23 were set to 28297620
Phenotypes for gene: RPL23 were set to Osteosarcoma, soft tissue sarcomas; Diamond Blackfan Anemia; MDS, AML; Class: BM failure syndrome (typ AR)
Cataract v0.568 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cataract v0.568 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cataract v0.568 KIAA1109 Zornitza Stark Classified gene: KIAA1109 as Green List (high evidence)
Cataract v0.568 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cataract v0.567 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Cataract. Sources: Literature
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 29290337
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM# 617822
Review for gene: KIAA1109 was set to GREEN
Added comment: PMID 29290337 reports 19 individuals from 10 unrelated families with autosomal‑recessive biallelic loss‑of‑function or hypomorphic missense variants in KIAA1109. Core features include severe brain malformations, arthrogryposis, microphthalmia and bilateral congenital cataract, plus cardiac, renal and limb anomalies. Functional studies in mouse, Drosophila and zebrafish demonstrate loss‑of‑function phenotypes that recapitulate the human disorder, supporting a loss‑of‑function (biallelic) disease mechanism.
Sources: Literature
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark changed review comment from: Cataracts are a core feature of the condition.
Sources: Literature; to: Deafness is a core feature of the condition.
Sources: Literature
Deafness_IsolatedAndComplex v1.320 Zornitza Stark Copied gene IARS2 from panel Cataract
Deafness_IsolatedAndComplex v1.320 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Cataract v0.566 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Cataract v0.566 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Cataract v0.566 IARS2 Zornitza Stark Classified gene: IARS2 as Green List (high evidence)
Cataract v0.566 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Cataract v0.565 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Review for gene: IARS2 was set to GREEN
Added comment: Cataracts are a core feature of the condition.
Sources: Literature
Cataract v0.564 GNAS Zornitza Stark Marked gene: GNAS as ready
Cataract v0.564 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Cataract v0.564 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Cataract v0.564 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Cataract v0.563 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Cataract. Sources: Literature
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 29136292; 26387561
Phenotypes for gene: GNAS were set to Disorder of GNAS inactivation MONDO:0800466
Review for gene: GNAS was set to GREEN
Added comment: PMID 29136292 reports 10 unrelated families with heterozygous loss‑of‑function GNAS variants and cataract in 56% of pseudohypoparathyroidism patients; PMID 26387561 reports 4 unrelated families with GNAS mutations, 2 of which have cataract. Combined, at least 14 unrelated families (20 patients) show cataract associated with pseudohypoparathyroidism.
Sources: Literature
Cataract v0.562 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Cataract v0.562 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Cataract v0.562 GBA2 Zornitza Stark Classified gene: GBA2 as Green List (high evidence)
Cataract v0.562 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Cataract v0.561 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 38334933; 28052128
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM# 614409
Review for gene: GBA2 was set to GREEN
Added comment: Multiple individuals reported with cataract.
Sources: Literature
Cataract v0.560 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Cataract v0.560 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Cataract v0.560 ERCC5 Zornitza Stark Classified gene: ERCC5 as Green List (high evidence)
Cataract v0.560 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Cataract v0.559 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 33766032; 32557569
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780
Review for gene: ERCC5 was set to GREEN
Added comment: Cataracts are a reported feature.
Sources: Literature
Cataract v0.558 EBP Zornitza Stark Marked gene: EBP as ready
Cataract v0.558 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Cataract v0.558 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Cataract v0.558 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Cataract v0.557 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Cataract. Sources: Literature
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 33147667; 29851033; 25846959; 25814754
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960; MEND syndrome, MIM# 300960
Review for gene: EBP was set to GREEN
Added comment: Cataracts are a feature of both conditions associated with this gene.
Sources: Literature
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark Marked STR: DMPK_DM1_CTG as ready
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark Str: dmpk_dm1_ctg has been classified as Green List (High Evidence).
Cataract v0.556 Zornitza Stark Copied STR DMPK_DM1_CTG from panel Mendeliome
Cataract v0.556 DMPK_DM1_CTG Zornitza Stark STR: DMPK_DM1_CTG was added
STR: DMPK_DM1_CTG was added to Cataract. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_DM1_CTG were set to 20301344; 29325606
Phenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900
Mendeliome v1.4269 LAMP3 Zornitza Stark Publications for gene: LAMP3 were set to 40023045; 34161347
Mendeliome v1.4268 LAMP3 Zornitza Stark Classified gene: LAMP3 as Green List (high evidence)
Mendeliome v1.4268 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.5 LAMP3 Zornitza Stark Publications for gene: LAMP3 were set to 40023045; 34161347
Mendeliome v1.4267 LAMP3 Zornitza Stark edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023
Pulmonary Fibrosis_Interstitial Lung Disease v1.4 LAMP3 Zornitza Stark Classified gene: LAMP3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v1.4 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Zornitza Stark edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Renee Santoreneos Deleted their review
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 LAMP3 Renee Santoreneos reviewed gene: LAMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: GIM 102531, 40023045, 34161347; Phenotypes: Interstitial lung disease, MONDO:0015925, LAMP3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.138 RAD51C Bryony Thompson Classified gene: RAD51C as Amber List (moderate evidence)
Bone Marrow Failure v1.138 RAD51C Bryony Thompson Gene: rad51c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4267 CPT1C Zornitza Stark Tag disputed tag was added to gene: CPT1C.
Mendeliome v1.4267 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 23973755; 30564185
Mendeliome v1.4266 CPT1C Zornitza Stark Classified gene: CPT1C as Amber List (moderate evidence)
Mendeliome v1.4266 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4265 CPT1C Zornitza Stark edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Marked gene: CPT1C as ready
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.142 CPT1C Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584; 30564185; 23973755
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Tag disputed tag was added to gene: CPT1C.
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Classified gene: CPT1C as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v1.141 CPT1C Zornitza Stark Gene: cpt1c has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.140 CPT1C Zornitza Stark edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619
Cataract v0.555 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Cataract v0.555 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Cataract v0.555 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Cataract v0.555 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Cataract v0.554 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 39747279; 32085876; 27839872
Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319
Review for gene: CPAMD8 was set to GREEN
Added comment: Multiple reports of cataract as part of the ocular phenotype associated with this condition.
Sources: Literature
Cataract v0.553 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Cataract v0.553 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Cataract v0.553 COL4A5 Zornitza Stark Classified gene: COL4A5 as Green List (high evidence)
Cataract v0.553 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Cataract v0.552 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: COL4A5 were set to 37162688; 33015404; 32883240
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050
Review for gene: COL4A5 was set to GREEN
Added comment: PMIDs 32883240, 33015404 and 37162688 report three unrelated families with X‑linked Alport syndrome presenting with cataract (often with anterior lenticonus and other ocular anomalies). Cataract is part of the ocular abnormalities observed in Alport syndrome.
Sources: Literature
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Marked STR: CNBP_DM2_CCTG as ready
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).
Cataract v0.551 CNBP_DM2_CCTG Zornitza Stark Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Cataract v0.550 CNBP_DM2_CCTG Zornitza Stark reviewed STR: CNBP_DM2_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 37123986, 34024776, 29086017, 28491317; Phenotypes: Myotonic dystrophy 2 MIM#602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.550 Zornitza Stark Copied STR CNBP_DM2_CCTG from panel Repeat Disorders
Cataract v0.550 CNBP_DM2_CCTG Zornitza Stark STR: CNBP_DM2_CCTG was added
STR: CNBP_DM2_CCTG was added to Cataract. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: CNBP_DM2_CCTG.
Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668
Cataract v0.549 CLPB Zornitza Stark Marked gene: CLPB as ready
Cataract v0.549 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Cataract v0.549 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Cataract v0.549 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Cataract v0.548 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Cataract. Sources: Literature
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 37548286; 36074910; 28687938; 25597510
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271
Review for gene: CLPB was set to GREEN
Added comment: PMIDs 25595726, 25597510, 25597511, 28687938, 36074910 and 37548286 collectively report 35 individuals from 21 unrelated families with biallelic loss‑of‑function CLPB variants presenting with congenital cataracts, neutropenia, 3‑methylglutaconic aciduria and multisystem neurodevelopmental impairment.
Sources: Literature
Cataract v0.547 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Cataract v0.547 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cataract v0.547 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Cataract v0.547 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Cataract v0.546 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 38597178; 32436650
Phenotypes for gene: CHD7 were set to CHARGE syndrome, MIM# 214800
Review for gene: CHD7 was set to AMBER
Added comment: PMID 38597178 reports six unrelated individuals (six families) with heterozygous loss‑of‑function CHD7 variants presenting with CHARGE syndrome and cataract, with detailed ophthalmic phenotyping; PMID 32436650 reports one additional individual (one family) with CHARGE syndrome and cataract caused by a heterozygous missense CHD7 variant.

Overall, cataract is present in a small proportion of affected individuals.
Sources: Literature
Cataract v0.545 CENPF Zornitza Stark Marked gene: CENPF as ready
Cataract v0.545 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Cataract v0.545 CENPF Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence)
Cataract v0.545 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Cataract v0.544 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Cataract. Sources: Literature
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM# 243605
Review for gene: CENPF was set to AMBER
Added comment: PMID 26820108 reports 4 individuals from 2 families with biallelic truncating CENPF variants presenting with Strømme syndrome, which includes congenital cataract, microphthalmia, intestinal atresia, and microcephaly. Cataracts not consistently reported in other affected individuals.
Sources: Literature
Cataract v0.543 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Cataract v0.543 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Cataract v0.543 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Cataract v0.543 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Cataract v0.542 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Cataract. Sources: Literature
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
Review for gene: CAPN15 was set to GREEN
Added comment: PMID 32885237 reports five individuals from four unrelated families with biallelic missense CAPN15 variants presenting with congenital ocular anomalies (microphthalmia, coloboma, cataract), growth delay, developmental delay, autism and sensorineural hearing loss. Segregation confirms autosomal recessive inheritance. Capn15 knockout mice recapitulate eye anomalies and reduced growth, supporting pathogenicity.
Sources: Literature
Cataract v0.541 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cataract v0.541 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cataract v0.541 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cataract v0.541 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cataract v0.540 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Cataract. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 33845882; 32607449
Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MIM# 618810
Review for gene: ATAD3A was set to GREEN
Added comment: PMID 33845882 reports 13 individuals from 8 unrelated families with recessive ATAD3A loss‑of‑function variants causing a neuro‑mitochondrial syndrome that includes congenital cataract; PMID 32607449 adds a consanguineous family with a homozygous splice‑site loss‑of‑function variant and early bilateral cataracts.
Sources: Literature
Cataract v0.539 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Cataract v0.539 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Cataract v0.539 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Cataract v0.539 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Cataract v0.538 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 39792033; 26066342
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM# 608104
Review for gene: ALG8 was set to GREEN
Added comment: Cataract is a reported feature of this CDG.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.199 Bryony Thompson Copied gene UPK3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.199 UPK3A Bryony Thompson gene: UPK3A was added
gene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: UPK3A.
Mode of inheritance for gene: UPK3A was set to Unknown
Phenotypes for gene: UPK3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 Bryony Thompson Copied gene TNXB from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.198 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNXB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNXB were set to 23620400
Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8, MIM# 615963
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.197 Bryony Thompson Copied gene TBX18 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.197 TBX18 Bryony Thompson gene: TBX18 was added
gene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX18 were set to 26235987
Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.196 Bryony Thompson Copied gene SRGAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.196 SRGAP1 Bryony Thompson gene: SRGAP1 was added
gene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRGAP1 were set to 26026792
Phenotypes for gene: SRGAP1 were set to CAKUT, MONDO:0019719, SRGAP1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.195 Bryony Thompson Copied gene SOX17 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.195 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX17 were set to 20960469
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.194 Bryony Thompson Copied gene SLIT2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.194 SLIT2 Bryony Thompson gene: SLIT2 was added
gene: SLIT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLIT2 were set to 26026792; 15130495
Phenotypes for gene: SLIT2 were set to CAKUT MONDO:0019719, SLIT2-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.193 Bryony Thompson Copied gene SLC20A1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.193 SLC20A1 Bryony Thompson gene: SLC20A1 was added
gene: SLC20A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.192 Bryony Thompson Copied gene PAX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.192 PAX2 Bryony Thompson gene: PAX2 was added
gene: PAX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 21654726; 24676634; 31060108; 32203253
Phenotypes for gene: PAX2 were set to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.191 Bryony Thompson Copied gene NPHP3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.191 NPHP3 Bryony Thompson gene: NPHP3 was added
gene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.190 Bryony Thompson Copied gene HOXA4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.190 HOXA4 Bryony Thompson gene: HOXA4 was added
gene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.189 Bryony Thompson Copied gene FGF8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.189 FGF8 Bryony Thompson gene: FGF8 was added
gene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.188 Bryony Thompson Copied gene FGF20 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.188 FGF20 Bryony Thompson gene: FGF20 was added
gene: FGF20 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282
Phenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721
Mendeliome v1.4265 Bryony Thompson Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Mendeliome v1.4265 CDC5L Bryony Thompson gene: CDC5L was added
gene: CDC5L was added to Mendeliome. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC5L were set to 24429398
Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.187 Bryony Thompson Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.187 CDC5L Bryony Thompson gene: CDC5L was added
gene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC5L were set to 24429398
Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.186 Bryony Thompson Copied gene BMP7 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.186 BMP7 Bryony Thompson gene: BMP7 was added
gene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 24429398
Phenotypes for gene: BMP7 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.185 Bryony Thompson Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.185 BICC1 Bryony Thompson gene: BICC1 was added
gene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Phenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.184 Bryony Thompson Copied gene ARID3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.184 ARID3A Bryony Thompson gene: ARID3A was added
gene: ARID3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID3A were set to 40774958
Phenotypes for gene: ARID3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 Bryony Thompson Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 ISCA-37432-Gain Bryony Thompson Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 Bryony Thompson Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.183 ISCA-37432-Gain Bryony Thompson Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.182 Bryony Thompson Copied gene WNT4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.182 WNT4 Bryony Thompson gene: WNT4 was added
gene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 Bryony Thompson Copied gene UMOD from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 UMOD Bryony Thompson gene: UMOD was added
gene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMOD was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 Bryony Thompson Copied gene TBC1D31 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.181 TBC1D31 Bryony Thompson gene: TBC1D31 was added
gene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature
Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D31 were set to 37468454
Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 Bryony Thompson Copied gene SIX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 SIX2 Bryony Thompson gene: SIX2 was added
gene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIX2 were set to 24429398
Phenotypes for gene: SIX2 were set to CAKUT, MONDO:0019719, SIX2-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 Bryony Thompson Copied gene HOXB6 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.180 HOXB6 Bryony Thompson gene: HOXB6 was added
gene: HOXB6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXB6 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.179 Bryony Thompson Copied gene FGFR1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.179 FGFR1 Bryony Thompson gene: FGFR1 was added
gene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 Bryony Thompson Copied gene CHD1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 CHD1L Bryony Thompson gene: CHD1L was added
gene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services
disputed tags were added to gene: CHD1L.
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1L were set to 22146311; 24429398
Phenotypes for gene: CHD1L were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 Bryony Thompson Copied gene CBWD1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.178 CBWD1 Bryony Thompson gene: CBWD1 was added
gene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 Bryony Thompson Copied gene WNT9B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 WNT9B Bryony Thompson gene: WNT9B was added
gene: WNT9B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Amber,Literature,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to PMID: 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 Bryony Thompson Copied gene SOX11 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.177 SOX11 Bryony Thompson gene: SOX11 was added
gene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874
Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 Bryony Thompson Copied gene PTCH1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 PTCH1 Bryony Thompson gene: PTCH1 was added
gene: PTCH1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Other
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Exstrophy-epispadias complex MONDO:0017919, PTCH1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 Bryony Thompson Copied gene DSTYK from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.176 DSTYK Bryony Thompson gene: DSTYK was added
gene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services
disputed tags were added to gene: DSTYK.
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSTYK were set to 23862974; 37746849; 34608560; 28618409
Phenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 Bryony Thompson Copied gene BCORL1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 BCORL1 Bryony Thompson gene: BCORL1 was added
gene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 Bryony Thompson Copied gene TRAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.175 TRAP1 Bryony Thompson gene: TRAP1 was added
gene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to Syndromic disease, MONDO:0002254, TRAP1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 Bryony Thompson Copied gene TBC1D1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 TBC1D1 Bryony Thompson gene: TBC1D1 was added
gene: TBC1D1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 Bryony Thompson Copied gene ROBO2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.174 ROBO2 Bryony Thompson gene: ROBO2 was added
gene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 Bryony Thompson Copied gene RET from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 RET Bryony Thompson gene: RET was added
gene: RET was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 22729463
Phenotypes for gene: RET were set to CAKUT MONDO:0019719, RET-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 Bryony Thompson Copied gene NPNT from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.173 NPNT Bryony Thompson gene: NPNT was added
gene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978; 34049960; 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 Bryony Thompson Copied gene LRIG2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 LRIG2 Bryony Thompson gene: LRIG2 was added
gene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, MIM# 615112
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 Bryony Thompson Copied gene LIFR from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.172 LIFR Bryony Thompson gene: LIFR was added
gene: LIFR was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to 28334964; 38025229
Phenotypes for gene: LIFR were set to CAKUT MONDO:0019719, LIFR-related
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.171 Bryony Thompson Copied gene ITGA8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.171 ITGA8 Bryony Thompson gene: ITGA8 was added
gene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA8 were set to 24439109
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, MIM# 191830
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 Bryony Thompson Copied gene HNF1B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 Bryony Thompson Copied gene GATA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.170 GATA3 Bryony Thompson gene: GATA3 was added
gene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to 10935639; 11389161; 21120445; 26316437; 25771973; 27387476; 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.169 Bryony Thompson Copied gene HPSE2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.169 HPSE2 Bryony Thompson gene: HPSE2 was added
gene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 25145936; 23313374; 33558177
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1 MIM#236730
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 Bryony Thompson Copied gene GREB1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 GREB1L Bryony Thompson gene: GREB1L was added
gene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 Bryony Thompson Copied gene GFRA1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.168 GFRA1 Bryony Thompson gene: GFRA1 was added
gene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172; 34737117
Phenotypes for gene: GFRA1 were set to Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.167 Bryony Thompson Copied gene CHRNA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.167 CHRNA3 Bryony Thompson gene: CHRNA3 was added
gene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 Bryony Thompson Copied gene CDX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 CDX2 Bryony Thompson gene: CDX2 was added
gene: CDX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDX2 were set to 29177441; 34671974
Phenotypes for gene: CDX2 were set to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 Bryony Thompson Copied gene BNC2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.166 BNC2 Bryony Thompson gene: BNC2 was added
gene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert list,Expert Review Green,Literature
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to PMID: 31656805, 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.165 Bryony Thompson Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.164 Bryony Thompson Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.163 Bryony Thompson Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic to Congenital anomalies of the kidney and urinary tract (CAKUT)
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy v1.178 Bryony Thompson Copied gene YARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.178 YARS Bryony Thompson gene: YARS was added
gene: YARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YARS were set to 16429158; 24354524; 31587308; 26725087
Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Hereditary Neuropathy v1.177 Bryony Thompson Copied gene WNK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.177 WNK1 Bryony Thompson gene: WNK1 was added
gene: WNK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 15060842; 15911806; 15455397; 16534117
Phenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309
Hereditary Neuropathy v1.176 Bryony Thompson Copied gene VWA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.176 VWA1 Bryony Thompson gene: VWA1 was added
gene: VWA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to 33459760; 33693694; 33559681
Phenotypes for gene: VWA1 were set to Hereditary motor neuropathy
Hereditary Neuropathy v1.175 Bryony Thompson Copied gene VRK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.175 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 31560180; 32242460; 31178479; 31837156; 30847374
Phenotypes for gene: VRK1 were set to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Hereditary Neuropathy v1.174 Bryony Thompson Copied gene VCP from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.174 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 25125609; 25878907; 32165109
Phenotypes for gene: VCP were set to Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
Mode of pathogenicity for gene: VCP was set to Other
Hereditary Neuropathy v1.173 Bryony Thompson Copied gene VAPB from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.173 VAPB Bryony Thompson gene: VAPB was added
gene: VAPB was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915
Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Hereditary Neuropathy v1.172 Bryony Thompson Copied gene UBA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.172 UBA1 Bryony Thompson gene: UBA1 was added
gene: UBA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311
Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRPV4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy v1.171 Bryony Thompson Copied gene TRIM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.171 TRIM2 Bryony Thompson gene: TRIM2 was added
gene: TRIM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 23562820; 25893792; 18687884; 32815244; 32205255; 25893792
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN
Hereditary Neuropathy v1.170 Bryony Thompson Added reviews for gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 Bryony Thompson Copied gene TFG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.169 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFG were set to 25098539; 23553329; 22883144; 31449671; 31111683
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484
Hereditary Neuropathy v1.168 Bryony Thompson Copied gene SYT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.168 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYT2 were set to 25192047; 30533528; 26519543
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC2 Bryony Thompson gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 20920666; 23658386; 31509666; 30866134
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN
Hereditary Neuropathy v1.167 Bryony Thompson Copied gene SPTLC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.167 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 11242114; 11242106; 15037712; 26681808
Phenotypes for gene: SPTLC1 were set to Juvenile amyotrophic lateral sclerosis-27, MIM#620285; HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary Neuropathy v1.166 Bryony Thompson Copied gene SPTAN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.166 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 33578420; 31332438
Phenotypes for gene: SPTAN1 were set to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Penetrance for gene: SPTAN1 were set to Incomplete
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SPG11 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 26556829; 33581793
Phenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726
Hereditary Neuropathy v1.165 Bryony Thompson Copied gene SORD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.165 SORD Bryony Thompson gene: SORD was added
gene: SORD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to 32367058
Phenotypes for gene: SORD were set to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912
Hereditary Neuropathy v1.164 Bryony Thompson Copied gene SMN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.164 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV tags were added to gene: SMN1.
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150
Hereditary Neuropathy v1.163 Bryony Thompson Copied gene SLC5A7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.163 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 15173594; 29782645; 29582019
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Hereditary Neuropathy v1.162 Bryony Thompson Copied gene SIGMAR1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.162 SIGMAR1 Bryony Thompson gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to 31511340
Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)
Hereditary Neuropathy v1.161 Bryony Thompson Copied gene SH3TC2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.161 SH3TC2 Bryony Thompson gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SH3TC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SH3TC2 were set to 19744956; 20220177; 19744956; 20028792
Phenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary Neuropathy v1.160 Bryony Thompson Copied gene SEPT9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.160 SEPT9 Bryony Thompson gene: SEPT9 was added
gene: SEPT9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
SV/CNV, 5'UTR, founder, new gene name tags were added to gene: SEPT9.
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN
Hereditary Neuropathy v1.159 Bryony Thompson Copied gene SCO2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.159 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 29351582; 31844624; 35112411
Phenotypes for gene: SCO2 were set to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
Hereditary Neuropathy v1.158 Bryony Thompson Copied gene SCN9A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.158 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020
Hereditary Neuropathy v1.157 Bryony Thompson Copied gene SCN11A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.157 SCN11A Bryony Thompson gene: SCN11A was added
gene: SCN11A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN11A were set to 24036948; 25118027; 30395542; 33884296; 32831372; 30046661
Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244
Hereditary Neuropathy v1.156 Bryony Thompson Copied gene SCN10A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.156 SCN10A Bryony Thompson gene: SCN10A was added
gene: SCN10A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136
Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551
Hereditary Neuropathy v1.155 Bryony Thompson Copied gene SBF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.155 SBF2 Bryony Thompson gene: SBF2 was added
gene: SBF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF2 were set to 12554688; 15477569; 12687498; 15304601; 31772832; 31070812
Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy v1.154 Bryony Thompson Copied gene SARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.154 SARS Bryony Thompson gene: SARS was added
gene: SARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Expert Review Green,Literature
Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SARS were set to 36088542
Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Hereditary Neuropathy v1.153 Bryony Thompson Copied gene RTN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.153 RTN2 Bryony Thompson gene: RTN2 was added
gene: RTN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN2 were set to 38527963
Phenotypes for gene: RTN2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854
Hereditary Neuropathy v1.152 Bryony Thompson Copied gene RETREG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.152 RETREG1 Bryony Thompson gene: RETREG1 was added
gene: RETREG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196; 24327336; 31737055; 31596031
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN
Hereditary Neuropathy v1.151 Bryony Thompson Copied gene REEP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.151 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: REEP1 were set to 27066569; 31872057; 22703882; 29124833
Phenotypes for gene: REEP1 were set to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250
Mode of pathogenicity for gene: REEP1 was set to Other
Hereditary Neuropathy v1.150 Bryony Thompson Copied gene RCC1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.150 RCC1 Bryony Thompson gene: RCC1 was added
gene: RCC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to 40683276
Phenotypes for gene: RCC1 were set to Infection-induced acute-onset axonal neuropathy, MIM# 621333
Hereditary Neuropathy v1.149 Bryony Thompson Copied gene RAB7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.149 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB7A were set to 12545426; 17060578; 32326241; 29130394; 25614874
Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Hereditary Neuropathy v1.148 Bryony Thompson Copied gene PRX from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.148 PRX Bryony Thompson gene: PRX was added
gene: PRX was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease type 4 MONDO:0018995
Hereditary Neuropathy v1.147 Bryony Thompson Copied gene PRPS1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.147 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 17701900; 24285972; 25491489; 25182139
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN
Hereditary Neuropathy v1.146 Bryony Thompson Copied gene PRDM12 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.146 PRDM12 Bryony Thompson gene: PRDM12 was added
gene: PRDM12 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26005867; 33789102; 33010785; 32828702
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Hereditary Neuropathy v1.145 Bryony Thompson Copied gene PMP22 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.145 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: PMP22.
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN
Hereditary Neuropathy v1.144 Bryony Thompson Copied gene PLEKHG5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.144 PLEKHG5 Bryony Thompson gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 17564964; 23777631; 23844677; 33492783; 33275839; 33220101; 23777631
Phenotypes for gene: PLEKHG5 were set to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related
Hereditary Neuropathy v1.143 Bryony Thompson Copied gene PDK3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.143 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDK3 were set to 23297365; 26801680; 27388934; 28902413
Phenotypes for gene: PDK3 were set to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Hereditary Neuropathy v1.142 Bryony Thompson Copied gene NGF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.142 NGF Bryony Thompson gene: NGF was added
gene: NGF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 14976160; 20978020; 33884296; 32693191; 31685654; 30296891
Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy v1.141 Bryony Thompson Copied gene NEFL from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.141 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 10841809; 12393795; 14733962; 24887401; 25877835; 20039262; 12566280; 29191368; 28902413
Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734
Hereditary Neuropathy v1.140 Bryony Thompson Copied gene NEFH from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.140 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEFH were set to 30992180; 27040688; 28709447
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN
Hereditary Neuropathy v1.139 Bryony Thompson Copied gene NDRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.139 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: NDRG1.
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 10831399; 24136616; 33334662; 29724652; 29174527; 28776325
Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085
Hereditary Neuropathy v1.138 Bryony Thompson Copied gene MTMR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.138 MTMR2 Bryony Thompson gene: MTMR2 was added
gene: MTMR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066
Hereditary Neuropathy v1.137 Bryony Thompson Copied gene MPZ from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.137 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MPZ were set to 19293842
Phenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Hereditary Neuropathy v1.136 Bryony Thompson Copied gene MPV17 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.136 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 22508010; 26437932; 30298599
Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy v1.135 Bryony Thompson Copied gene MME from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.135 MME Bryony Thompson gene: MME was added
gene: MME was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Royal Melbourne Hospital,GeneReviews
Mode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MME were set to 26991897; 27588448; 33144514; 31429185
Phenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866
Hereditary Neuropathy v1.134 Bryony Thompson Copied gene MFN2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.134 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 15064763; 15549395; 16437557; 20008656
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Hereditary Neuropathy v1.133 Bryony Thompson Copied gene LRSAM1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.133 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRSAM1 were set to 20865121; 22012984; 22781092; 27686364; 33568173; 33414056; 30996334
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Hereditary Neuropathy v1.132 Bryony Thompson Copied gene WARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.132 WARS Bryony Thompson gene: WARS was added
gene: WARS was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Royal Melbourne Hospital
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to 28369220; 31321409; 31069783
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, MIM#617721
Hereditary Neuropathy v1.131 Bryony Thompson Copied gene UBA5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.131 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 32179706; 26872069
Phenotypes for gene: UBA5 were set to Hypomyelinating neuropathy
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson edited their review of gene: RBM7: Changed rating: RED
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Classified gene: RBM7 as Red List (low evidence)
Hereditary Neuropathy v1.130 RBM7 Bryony Thompson Gene: rbm7 has been classified as Red List (Low Evidence).
Mendeliome v1.4264 RBM7 Bryony Thompson edited their review of gene: RBM7: Changed rating: RED
Mendeliome v1.4264 RBM7 Bryony Thompson Classified gene: RBM7 as Red List (low evidence)
Mendeliome v1.4264 RBM7 Bryony Thompson Gene: rbm7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v1.129 Bryony Thompson Copied gene RBM7 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.129 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA
Mendeliome v1.4263 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Mendeliome v1.4263 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Hereditary Neuropathy v1.128 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.127 Bryony Thompson Copied gene PMP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.127 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMP2 were set to 26257172; 26828946; 27009151
Phenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Mode of pathogenicity for gene: PMP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy v1.126 Bryony Thompson Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.126 PCK2 Bryony Thompson gene: PCK2 was added
gene: PCK2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related
Hereditary Neuropathy v1.125 Bryony Thompson Copied gene NAGLU from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.125 NAGLU Bryony Thompson gene: NAGLU was added
gene: NAGLU was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN
Hereditary Neuropathy v1.124 Bryony Thompson Copied gene MYO9B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.124 MYO9B Bryony Thompson gene: MYO9B was added
gene: MYO9B was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9B were set to PMID: 36260368; 40382695
Phenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Hereditary Neuropathy v1.123 Bryony Thompson Copied gene LMNA from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.123 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 11799477; 28902413
Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Hereditary Neuropathy v1.122 Bryony Thompson Copied gene LITAF from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.122 LITAF Bryony Thompson gene: LITAF was added
gene: LITAF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LITAF were set to 12525712; 19541485; 23359569; 32665875; 28211240
Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Hereditary Neuropathy v1.121 Bryony Thompson Copied Region ISCA-37436-Loss from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.121 ISCA-37436-Loss Bryony Thompson Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37436-Loss.
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Hereditary Neuropathy v1.120 Bryony Thompson Copied Region ISCA-37436-Gain from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.120 ISCA-37436-Gain Bryony Thompson Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Hereditary Neuropathy. Sources: Expert list,Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A, MIM#118220
Hereditary Neuropathy v1.119 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.119 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.
Mode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760
Phenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features MIM#619216
Hereditary Neuropathy v1.118 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.118 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Hereditary Neuropathy v1.117 Bryony Thompson Copied gene TRPA1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.117 TRPA1 Bryony Thompson gene: TRPA1 was added
gene: TRPA1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 20547126
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN
Hereditary Neuropathy v1.116 Bryony Thompson Copied gene SH3BP4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.116 SH3BP4 Bryony Thompson gene: SH3BP4 was added
gene: SH3BP4 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SH3BP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH3BP4 were set to 24627108
Phenotypes for gene: SH3BP4 were set to HMSN
Hereditary Neuropathy v1.115 Bryony Thompson Copied gene NRG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.115 NRG1 Bryony Thompson gene: NRG1 was added
gene: NRG1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert list
Mode of inheritance for gene: NRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRG1 were set to 35485770
Phenotypes for gene: NRG1 were set to Peripheral neuropathy MONDO:0005244
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene NAMPT from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 NAMPT Bryony Thompson gene: NAMPT was added
gene: NAMPT was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAMPT were set to 41004591
Phenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358
Hereditary Neuropathy v1.114 Bryony Thompson Copied gene MED25 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.114 MED25 Bryony Thompson gene: MED25 was added
gene: MED25 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert list,Victorian Clinical Genetics Services
disputed tags were added to gene: MED25.
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556; 30039206
Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Hereditary Neuropathy v1.113 Bryony Thompson Copied gene MARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.113 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 24354524; 29655802
Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary Neuropathy v1.112 Bryony Thompson Copied gene LAS1L from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.112 LAS1L Bryony Thompson gene: LAS1L was added
gene: LAS1L was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Red,Expert Review
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAS1L were set to 24647030
Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease
Hereditary Neuropathy v1.111 Bryony Thompson Copied gene KLHL13 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.111 KLHL13 Bryony Thompson gene: KLHL13 was added
gene: KLHL13 was added to Hereditary Neuropathy. Sources: Expert Review Red,Expert Review,Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Hereditary Neuropathy v1.110 Bryony Thompson Copied gene KIF5A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.110 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 30057544; 29892902; 28902413; 26403765; 25695920; 25008398
Phenotypes for gene: KIF5A were set to Hereditary Neuropathies; HMSN
Hereditary Neuropathy v1.109 Bryony Thompson Copied gene KIF1B from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.109 KIF1B Bryony Thompson gene: KIF1B was added
gene: KIF1B was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1B were set to 11389829; 30126838; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN
Hereditary Neuropathy v1.108 Bryony Thompson Copied gene IQGAP3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.108 IQGAP3 Bryony Thompson gene: IQGAP3 was added
gene: IQGAP3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: IQGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IQGAP3 were set to 32341455
Phenotypes for gene: IQGAP3 were set to Hereditary neuropathy
Hereditary Neuropathy v1.107 Bryony Thompson Copied gene KIF1A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.107 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21820098; 28708278
Phenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary Neuropathy v1.106 Bryony Thompson Copied gene JAG1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.106 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 32065591; 25707699
Phenotypes for gene: JAG1 were set to Peripheral neuropathy
Hereditary Neuropathy v1.105 Bryony Thompson Copied gene ITPR3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.105 ITPR3 Bryony Thompson gene: ITPR3 was added
gene: ITPR3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITPR3 were set to 32949214; 24627108; 36302985; 39270020; 39560673
Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254
Mode of pathogenicity for gene: ITPR3 was set to Other
Hereditary Neuropathy v1.104 Bryony Thompson Copied gene INF2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.104 INF2 Bryony Thompson gene: INF2 was added
gene: INF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: INF2 were set to 22187985; 30680856; 25943269
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN
Hereditary Neuropathy v1.103 Bryony Thompson Copied gene IGHMBP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.103 IGHMBP2 Bryony Thompson gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 25439726
Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary Neuropathy v1.102 Bryony Thompson Copied gene HSPB8 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.102 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 15122253; 15565283; 29029362; 28780615; 28144995; 26718575
Phenotypes for gene: HSPB8 were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary Neuropathy v1.101 Bryony Thompson Copied gene HSPB3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.101 HSPB3 Bryony Thompson gene: HSPB3 was added
gene: HSPB3 was added to Hereditary Neuropathy. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 20142617; 27549087
Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary Neuropathy v1.100 Bryony Thompson Copied gene HSPB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.100 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPB1 were set to 21785432; 15122254; 18832141; 32639100; 32334137; 33943041; 35328016
Phenotypes for gene: HSPB1 were set to Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687
Hereditary Neuropathy v1.99 Bryony Thompson Copied gene HK1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.99 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
5'UTR, founder tags were added to gene: HK1.
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 19536174; 26822750
Phenotypes for gene: HK1 were set to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy v1.98 Bryony Thompson Copied gene HINT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.98 HINT1 Bryony Thompson gene: HINT1 was added
gene: HINT1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HINT1 were set to 22961002; 33663550; 33404983; 31848916
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA
Hereditary Neuropathy v1.97 Bryony Thompson Copied gene HARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.97 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
new gene name tags were added to gene: HARS.
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HARS were set to 26072516
Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN
Hereditary Neuropathy v1.96 Bryony Thompson Copied gene GNB4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.96 GNB4 Bryony Thompson gene: GNB4 was added
gene: GNB4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 23434117; 28642160; 27908631
Phenotypes for gene: GNB4 were set to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Hereditary Neuropathy v1.95 Bryony Thompson Copied gene GJB1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.95 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GJB1 were set to 8266101; 17100997; 17353473
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN
Hereditary Neuropathy v1.94 Bryony Thompson Copied gene GDAP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.94 GDAP1 Bryony Thompson gene: GDAP1 was added
gene: GDAP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Hereditary Neuropathy v1.93 Bryony Thompson Copied gene GBF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.93 GBF1 Bryony Thompson gene: GBF1 was added
gene: GBF1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GBF1 were set to 32937143
Phenotypes for gene: GBF1 were set to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Hereditary Neuropathy v1.92 Bryony Thompson Copied gene GARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.92 GARS Bryony Thompson gene: GARS was added
gene: GARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
new gene name tags were added to gene: GARS.
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GARS were set to 17101916; 22462675; 31985473; 32181591; 12690580; 25168514; 26503042; 29648643; 16982418
Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, infantile, James type, MIM# 619042; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary Neuropathy v1.91 Bryony Thompson Copied gene FIG4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.91 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665; 21705420; 24878229
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Hereditary Neuropathy v1.90 Bryony Thompson Copied gene FICD from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.90 FICD Bryony Thompson gene: FICD was added
gene: FICD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, MIM# 620911
Hereditary Neuropathy v1.89 Bryony Thompson Copied gene FGD4 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.89 FGD4 Bryony Thompson gene: FGD4 was added
gene: FGD4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGD4 were set to 17564959; 31152969; 28847448; 28543957
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN
Hereditary Neuropathy v1.88 Bryony Thompson Copied gene FBXO38 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.88 FBXO38 Bryony Thompson gene: FBXO38 was added
gene: FBXO38 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Hereditary Neuropathy v1.87 Bryony Thompson Copied gene FBLN5 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.87 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN5 were set to 32757322; 31945625; 23328402; 28332470
Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy v1.86 Bryony Thompson Copied gene ELP1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.86 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179008; 11179021; 17644305
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy v1.85 Bryony Thompson Copied gene EGR2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.85 EGR2 Bryony Thompson gene: EGR2 was added
gene: EGR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: EGR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EGR2 were set to 11523566; 31852952
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Mode of pathogenicity for gene: EGR2 was set to Other
Hereditary Neuropathy v1.84 Bryony Thompson Copied gene DYNC1H1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.84 DYNC1H1 Bryony Thompson gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 21820100; 32788638; 27549087
Phenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Hereditary Neuropathy v1.83 Bryony Thompson Copied gene DST from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.83 DST Bryony Thompson gene: DST was added
gene: DST was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Literature
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 22522446; 30371979; 28468842
Phenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN
Hereditary Neuropathy v1.82 Bryony Thompson Copied gene DRP2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.82 DRP2 Bryony Thompson gene: DRP2 was added
gene: DRP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 22764250; 26227883; 31217940
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Hereditary Neuropathy v1.81 Bryony Thompson Copied gene DNMT1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.81 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Hereditary Neuropathy. Sources: Literature,ClinGen,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424
Phenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584
Hereditary Neuropathy v1.80 Bryony Thompson Copied gene DNM2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.80 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 15731758; 17636067; 33459893; 31628461
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Hereditary Neuropathy v1.79 Bryony Thompson Copied gene DNAJB2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.79 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 22522442; 25274842; 33369814; 22522442
Phenotypes for gene: DNAJB2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
Hereditary Neuropathy v1.78 Bryony Thompson Copied gene DHX9 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.78 DHX9 Bryony Thompson gene: DHX9 was added
gene: DHX9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related
Hereditary Neuropathy v1.77 Bryony Thompson Copied gene DHTKD1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.77 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Amber,NHS GMS
Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHTKD1 were set to 23141294, 29661920, 28902413
Phenotypes for gene: DHTKD1 were set to Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012
Hereditary Neuropathy v1.76 Bryony Thompson Copied gene DGAT2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.76 DGAT2 Bryony Thompson gene: DGAT2 was added
gene: DGAT2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert Review Amber,Expert Review,Royal Melbourne Hospital
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Hereditary Neuropathy v1.75 Bryony Thompson Copied gene DCTN1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.75 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 12627231; 15326253; 33443672; 32023010; 27573046
Phenotypes for gene: DCTN1 were set to Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879
Hereditary Neuropathy v1.74 Bryony Thompson Copied gene COX6A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.74 COX6A1 Bryony Thompson gene: COX6A1 was added
gene: COX6A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A1 were set to 25152455; 26302975; 25152455
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN
Hereditary Neuropathy v1.73 Bryony Thompson Copied gene COX20 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.73 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX20 were set to PMID: 33751098
Phenotypes for gene: COX20 were set to sensory neuronopathy; sensory neuron disease; ganglionopathy
Hereditary Neuropathy v1.72 Bryony Thompson Copied gene CHCHD10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.72 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: CHCHD10.
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 22535186; 27066538
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA
Hereditary Neuropathy v1.71 Bryony Thompson Copied gene CADM3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.71 CADM3 Bryony Thompson gene: CADM3 was added
gene: CADM3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CADM3 were set to 33889941; 38074074
Phenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Penetrance for gene: CADM3 were set to unknown
Hereditary Neuropathy v1.70 Bryony Thompson Copied gene C1orf194 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.70 C1orf194 Bryony Thompson gene: C1orf194 was added
gene: C1orf194 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to 31199454; 32592472
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating
Hereditary Neuropathy v1.69 Bryony Thompson Copied gene BSCL2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.69 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to 14981520; 15732094
Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VC, MIM# 619112
Hereditary Neuropathy v1.68 Bryony Thompson Copied gene BICD2 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.68 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA
Hereditary Neuropathy v1.67 Bryony Thompson Copied gene BANF1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.67 BANF1 Bryony Thompson gene: BANF1 was added
gene: BANF1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BANF1 were set to 36980188
Phenotypes for gene: BANF1 were set to Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
Hereditary Neuropathy v1.66 Bryony Thompson Copied gene ATP7A from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.66 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,NHS GMS,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA
Hereditary Neuropathy v1.65 Bryony Thompson Copied gene ATP1A1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.65 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 29499166
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833
Hereditary Neuropathy v1.64 Bryony Thompson Copied gene ATL3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.64 ATL3 Bryony Thompson gene: ATL3 was added
gene: ATL3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309
Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN
Hereditary Neuropathy v1.63 Bryony Thompson Copied gene ATL1 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.63 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATL1 were set to 21194679; 24604904; 22340599
Phenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy v1.62 Bryony Thompson Copied gene ARPC3 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.62 ARPC3 Bryony Thompson gene: ARPC3 was added
gene: ARPC3 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC3 were set to 36928819; 26166300; 40011789
Phenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626
Hereditary Neuropathy v1.61 Bryony Thompson Copied gene ARHGEF10 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.61 ARHGEF10 Bryony Thompson gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN
Hereditary Neuropathy v1.60 Bryony Thompson Copied gene ARHGAP19 from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.60 ARHGAP19 Bryony Thompson gene: ARHGAP19 was added
gene: ARHGAP19 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP19 were set to 41086021
Phenotypes for gene: ARHGAP19 were set to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466
Hereditary Neuropathy v1.58 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex to Hereditary Neuropathy
Hereditary Neuropathy v1.57 Bryony Thompson Copied gene AARS from panel Hereditary Neuropathy_CMT - isolated
Hereditary Neuropathy v1.57 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AARS were set to 20045102; 22009580; 22206013; 30373780; 26032230
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA
Lymphoedema v0.32 FLT4 Bryony Thompson Marked gene: FLT4 as ready
Lymphoedema v0.32 FLT4 Bryony Thompson Gene: flt4 has been classified as Green List (High Evidence).
Lymphoedema v0.32 FLT4 Bryony Thompson Classified gene: FLT4 as Green List (high evidence)
Lymphoedema v0.32 FLT4 Bryony Thompson Gene: flt4 has been classified as Green List (High Evidence).
Lymphoedema v0.31 Bryony Thompson Added reviews for gene FLT4 from panel Mendeliome
Lymphoedema v0.30 FLT4 Bryony Thompson gene: FLT4 was added
gene: FLT4 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema v0.29 EPHB4 Bryony Thompson Classified gene: EPHB4 as Green List (high evidence)
Lymphoedema v0.29 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Green List (High Evidence).
Lymphoedema v0.28 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to 34040196; 34231312; 27400125; 29905864
Phenotypes for gene: EPHB4 were set to EPHB4-associated vascular malformation spectrum MONDO:0700080
Review for gene: EPHB4 was set to GREEN
Added comment: PMID: 34040196 - p.N410K (VUS) in a case with primary lymphoedema
PMID: 34231312 - one family with a primary lymphoedema (c.1998_1999insGC;
p.Ile667Alafs*25). The variant allele didn’t fully undergo NMD
PMID: 27400125 - 2 missense segregating in 2 unrelated families
PMID: 29905864 - splice variant producing an in-frame deletion segregating in a family
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.660 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.660 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Lymphoedema v0.27 Bryony Thompson Panel name changed from Lymphoedema_syndromic to Lymphoedema
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Mendeliome v1.4262 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Mendeliome v1.4262 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.659 Sangavi Sivagnanasundram Copied gene MAP2K4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.659 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Genetic Epilepsy v1.370 Sangavi Sivagnanasundram Copied gene MAP2K4 from panel Mendeliome
Genetic Epilepsy v1.370 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Mendeliome v1.4261 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Review for gene: MAP2K4 was set to GREEN
Added comment: PMID 41480045 reports ten individuals from ten unrelated families with heterozygous de novo loss-of-function or missense MAP2K4 variants presenting with a syndromic neurodevelopmental disorder characterized by developmental delay/intellectual disability, epilepsy, and genitourinary and musculoskeletal congenital anomalies. All the reported variants were absent in gnomAD v4.1.

DD, ID - present in the majority of the reported individuals
CAKUT-like phenotypes reported in 5 individuals
Reports of hypotonia in three individuals
Epilepsy was reported in 4 individuals

A functional study using CRISPR-edited iPSC-derived neurons demonstrates reduced MP2K4 protein and impaired JNK signalling however, more evidence is required to confirm loss of function as the mechanism of disease. There are no pathogenic variants reported in ClinVar in this gene in the germline context.
Sources: Literature
Lymphoedema v0.26 HGF Bryony Thompson Classified gene: HGF as Green List (high evidence)
Lymphoedema v0.26 HGF Bryony Thompson Gene: hgf has been classified as Green List (High Evidence).
Lymphoedema v0.25 Bryony Thompson Added reviews for gene HGF from panel Lymphoedema_nonsyndromic
Lymphoedema v0.24 Bryony Thompson Added reviews for gene PTPN14 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.23 Bryony Thompson Added reviews for gene VEGFC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.22 Bryony Thompson Copied gene TIE1 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.22 TIE1 Bryony Thompson gene: TIE1 was added
gene: TIE1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452; 38820174
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Lymphoedema v0.21 Bryony Thompson Copied gene RORC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.21 RORC Bryony Thompson gene: RORC was added
gene: RORC was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RORC were set to 32960152
Phenotypes for gene: RORC were set to Lymphoedema
Lymphoedema v0.20 Bryony Thompson Copied gene MDFIC from panel Lymphoedema_nonsyndromic
Lymphoedema v0.20 MDFIC Bryony Thompson gene: MDFIC was added
gene: MDFIC was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014
Lymphoedema v0.19 Bryony Thompson Copied gene ERG from panel Lymphoedema_nonsyndromic
Lymphoedema v0.19 ERG Bryony Thompson gene: ERG was added
gene: ERG was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 36928819
Phenotypes for gene: ERG were set to Lymphatic malformation 14, MIM# 620602
Penetrance for gene: ERG were set to unknown
Lymphoedema v0.18 Bryony Thompson Copied gene CELSR1 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.18 CELSR1 Bryony Thompson gene: CELSR1 was added
gene: CELSR1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319
Penetrance for gene: CELSR1 were set to Incomplete
Lymphoedema v0.17 Bryony Thompson Copied gene ARAP3 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.17 ARAP3 Bryony Thompson gene: ARAP3 was added
gene: ARAP3 was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARAP3 were set to 32908855
Phenotypes for gene: ARAP3 were set to Lymphoedema, MONDO:0019297, ARAP3-related
Lymphoedema v0.16 Bryony Thompson Copied gene ARAF from panel Lymphoedema_nonsyndromic
Lymphoedema v0.16 ARAF Bryony Thompson gene: ARAF was added
gene: ARAF was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARAF were set to 31263281
Phenotypes for gene: ARAF were set to Lymphatic malformation, MONDO:0019313, ARAF-related
Mode of pathogenicity for gene: ARAF was set to Other
Lymphoedema v0.15 Bryony Thompson Copied gene ANGPT2 from panel Lymphoedema_nonsyndromic
Lymphoedema v0.15 ANGPT2 Bryony Thompson gene: ANGPT2 was added
gene: ANGPT2 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Mendeliome v1.4260 VPS18 Bryony Thompson Marked gene: VPS18 as ready
Mendeliome v1.4260 VPS18 Bryony Thompson Gene: vps18 has been classified as Red List (Low Evidence).
Mendeliome v1.4260 VPS18 Bryony Thompson gene: VPS18 was added
gene: VPS18 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: VPS18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS18 were set to 41526335
Phenotypes for gene: VPS18 were set to Inborn error of immunity, MONDO:0003778
Review for gene: VPS18 was set to RED
Added comment: PMID 41526335 reports a single individual from one unrelated family with a heterozygous loss‑of‑function stop‑gain VPS18 variant (c.700C>T, p.Arg234Ter) presenting with congenital neutropenia, maturation arrest of neutrophils and recurrent infections. Human iPSC knock‑in, zebrafish and mouse models recapitulate the neutrophil deficiency, supporting a haploinsufficiency mechanism with dominant inheritance and incomplete penetrance.
Sources: Literature
Autism v0.244 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Autism v0.244 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Autism v0.243 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.4259 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Mendeliome v1.4259 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Mendeliome v1.4258 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Intellectual disability syndromic and non-syndromic v1.658 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to 25839933; 29127138; 25807484; 38604781; 25473103; 31814264
Intellectual disability syndromic and non-syndromic v1.657 CTNND2 Zornitza Stark Classified gene: CTNND2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.657 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.656 CTNND2 Zornitza Stark edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.

Note several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related
Mendeliome v1.4258 GDF6 Lucy Spencer Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT to Multiple synostoses syndrome 4 MIM#617898; Klippel-Feil syndrome 1, autosomal dominant MIM#118100; Leber congenital amaurosis 17 MIM615360; Microphthalmia, isolated 4 MIM#613094
Mendeliome v1.4257 GDF6 Lucy Spencer Publications for gene: GDF6 were set to 18425797; 19129173; 32737436
Mendeliome v1.4256 GDF6 Lucy Spencer reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26643732, 29130651, 30733656, 18425797, 34573339, 23307924, 19129173, 20494911, 21070663, 24033328, 25457163; Phenotypes: Multiple synostoses syndrome 4 MIM#617898, Klippel-Feil syndrome 1, autosomal dominant MIM#118100, Leber congenital amaurosis 17 MIM615360, Microphthalmia, isolated 4 MIM#613094; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.311 Sarah Milton Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.311 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Clefting disorders. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Common deletion and duplication syndromes v0.156 ISCA-46303-Loss Sarah Milton Region: ISCA-46303-Loss was added
Region: ISCA-46303-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336
Review for Region: ISCA-46303-Loss was set to GREEN
Added comment: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals.

It should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature.
Sources: ClinGen
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Mendeliome v1.4256 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Mendeliome v1.4256 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Mendeliome v1.4256 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v1.4256 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Hereditary Spastic Paraplegia v1.140 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Hereditary Spastic Paraplegia v1.140 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Genetic Epilepsy v1.369 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Classified gene: PGBD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.656 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.655 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Review for gene: PGBD5 was set to GREEN
Added comment: 10 individuals reported from 5 consanguineous families with bi-allelic variants in this gene and global developmental delay with impaired intellectual development, delayed motor skills, and motor abnormalities. Affected individuals were unable to speak or walk due to peripheral spasticity, ataxia, or hypotonia, and developed early-onset seizures. Additional features included dysmorphic facies, short stature, and brain imaging abnormalities, such as thin corpus callosum and cerebellar atrophy.

Pgbd5-null mice were runted and had significantly smaller brains compared to wildtype. Mutant mice showed increased locomotor activity, reduced anxiety-like behavior, impaired motor coordination, increased susceptibility to seizures, and decreased cortical volume on brain MRI. Analysis of neurons derived from Pgbd5-null mouse brains showed reduced DNA breakage and repair in postmitotic neuronal precursors during cortical development compared to controls.
Sources: Literature
Common deletion and duplication syndromes v0.155 ISCA-37494-Gain Zornitza Stark changed review comment from: Well established CNV, includes MECP2. Severe disorder in males, variable features in females.; to: Well established CNV. Severe disorder in males, variable features in females.
Mendeliome v1.4255 ALDH6A1 Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:004096

ClinGen reports the same 5 probands mentioned below with biochemical abnormalities.
Their reasoning for classifying this GDA as limited is:
"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection."

Given the biochemical abnormality, gene remain as GREEN.; to: Classified as LIMITED by ClinGen Aminoacidopathy GCEP on 09/01/2026 - https://search.clinicalgenome.org/CCID:004096

ClinGen reports the same 5 probands mentioned below with biochemical abnormalities.
Their reasoning for classifying this GDA as limited is:
"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection."

Given the biochemical abnormality, gene remain as GREEN.
Mendeliome v1.4255 ALDH6A1 Sangavi Sivagnanasundram reviewed gene: ALDH6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004096; Phenotypes: methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome v0.46 FGF12 Sangavi Sivagnanasundram gene: FGF12 was added
gene: FGF12 was added to Brugada syndrome. Sources: ClinGen
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF12 were set to Brugada syndrome MONDO:0015263
Review for gene: FGF12 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009116

"Since the initial gene-disease assertion in 2013, there has been no further compelling genetic evidence corroborating this relationship. Indeed, two separate studies have specifically considered the prevalence of FGF12 variants in Brugada syndrome cohorts and have not found any rare variants within the coding exons of the gene. Given the absence of compelling clinical genetic data over a 13 year period, this gene-disease classification was disputed."
Sources: ClinGen
Brugada syndrome v0.45 Sangavi Sivagnanasundram Copied gene TMEM168 from panel Incidentalome
Brugada syndrome v0.45 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Brugada syndrome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Long QT Syndrome v0.63 Sangavi Sivagnanasundram Copied gene ALG10B from panel Incidentalome
Long QT Syndrome v0.63 ALG10B Sangavi Sivagnanasundram gene: ALG10B was added
gene: ALG10B was added to Long QT Syndrome. Sources: ClinGen
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG10B were set to 37071726
Phenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442
Incidentalome v0.420 ALG10B Sangavi Sivagnanasundram gene: ALG10B was added
gene: ALG10B was added to Incidentalome. Sources: ClinGen
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG10B were set to 37071726
Phenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442
Review for gene: ALG10B was set to RED
Added comment: Classified as LIMITED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009115

6 individuals from one family reported with the same missense variant c.16G>A, p.Gly6Ser.
Sources: ClinGen
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram commented on gene: TMEM168
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram Classified gene: TMEM168 as No list
Mendeliome v1.4255 TMEM168 Sangavi Sivagnanasundram Gene: tmem168 has been removed from the panel.
Incidentalome v0.419 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Incidentalome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Review for gene: TMEM168 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114
Sources: ClinGen
Mendeliome v1.4254 TMEM168 Sangavi Sivagnanasundram Deleted their review
Mendeliome v1.4254 TMEM168 Sangavi Sivagnanasundram gene: TMEM168 was added
gene: TMEM168 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114
Phenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263
Review for gene: TMEM168 was set to RED
Added comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114
Sources: ClinGen
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram edited their review of gene: IL21: Changed rating: RED
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133

Remain as Amber. ClinGen reports the same proband and siblings as below along with supportive functional assays; to: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133

Remain as RED. ClinGen reports the same proband and siblings as below along with supportive functional assays however only one reported proband with biallelic variant in this gene.
Mendeliome v1.4253 IL21 Sangavi Sivagnanasundram reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IL21-related infantile inflammatory bowel disease MONDO:0014338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 ABCC8 Sangavi Sivagnanasundram reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperinsulinism MONDO:0002177, hyperinsulinemic hypoglycemia, familial, 1 MONDO:0009734; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.319 TWNK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."; to: Hearing loss has been reported in multiple affected individuals.

Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."
Deafness_IsolatedAndComplex v1.319 Sangavi Sivagnanasundram Copied gene TWNK from panel Mendeliome
Deafness_IsolatedAndComplex v1.319 TWNK Sangavi Sivagnanasundram gene: TWNK was added
gene: TWNK was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 32234020; 18593709
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mode of pathogenicity for gene: TWNK was set to Other
Mendeliome v1.4253 TWNK Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173; to: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173

"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."
Deafness_IsolatedAndComplex v1.318 GRAP Sangavi Sivagnanasundram edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497
Mendeliome v1.4253 GRAP Sangavi Sivagnanasundram edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497
Mendeliome v1.4253 TWNK Sangavi Sivagnanasundram reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009173; Phenotypes: Perrault syndrome 5 MONDO:0014504; Mode of inheritance: None
Deafness_IsolatedAndComplex v1.318 Sangavi Sivagnanasundram Added reviews for gene GRAP from panel Mendeliome
Mendeliome v1.4253 GRAP Sangavi Sivagnanasundram reviewed gene: GRAP: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009156; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4253 ABCD4 Sangavi Sivagnanasundram reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004015; Phenotypes: methylmalonic acidemia with homocystinuria, type cblJ MONDO:0013925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.56 Sangavi Sivagnanasundram Added reviews for gene LDB3 from panel Mendeliome
Mendeliome v1.4253 LDB3 Sangavi Sivagnanasundram reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 POLR1C Sangavi Sivagnanasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009178; Phenotypes: POLR1C-related disorder MONDO:0700278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4253 CTC1 Sangavi Sivagnanasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009177; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:0024564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.137 Sangavi Sivagnanasundram Added reviews for gene RAP1B from panel Mendeliome
Mendeliome v1.4253 RAP1B Sangavi Sivagnanasundram reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005970; Phenotypes: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0958000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.408 RBBP8 Chirag Patel Marked gene: RBBP8 as ready
Skeletal dysplasia v0.408 RBBP8 Chirag Patel Gene: rbbp8 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.408 Chirag Patel Copied gene RBBP8 from panel Mendeliome
Skeletal dysplasia v0.408 RBBP8 Chirag Patel gene: RBBP8 was added
gene: RBBP8 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 21998596; 34270086
Phenotypes for gene: RBBP8 were set to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Skeletal dysplasia v0.407 DNA2 Chirag Patel Marked gene: DNA2 as ready
Skeletal dysplasia v0.407 DNA2 Chirag Patel Gene: dna2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.407 Chirag Patel Copied gene DNA2 from panel Mendeliome
Skeletal dysplasia v0.407 DNA2 Chirag Patel gene: DNA2 was added
gene: DNA2 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNA2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050; 31045292; 23352259; 25635128; 28554558; 37133451
Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, type 4, MIM# 620819; Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Skeletal dysplasia v0.406 CRIPT Chirag Patel Marked gene: CRIPT as ready
Skeletal dysplasia v0.406 CRIPT Chirag Patel Gene: cript has been classified as Green List (High Evidence).
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Deleted their comment
Skeletal dysplasia v0.406 CEP152 Chirag Patel Marked gene: CEP152 as ready
Skeletal dysplasia v0.406 CEP152 Chirag Patel Gene: cep152 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.406 CEP152 Chirag Patel Classified gene: CEP152 as Red List (low evidence)
Skeletal dysplasia v0.406 CEP152 Chirag Patel Gene: cep152 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.405 ATR Chirag Patel Marked gene: ATR as ready
Skeletal dysplasia v0.405 ATR Chirag Patel Gene: atr has been classified as Green List (High Evidence).
Skeletal dysplasia v0.405 Chirag Patel Copied gene CRIPT from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias
Skeletal dysplasia v0.405 CRIPT Chirag Patel gene: CRIPT was added
gene: CRIPT was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to 24389050; 27250922; 36630262; 37013901
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152: Not skeletal dysplasia
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152: Not skeletal dysplasia
Skeletal dysplasia v0.404 CEP152 Chirag Patel edited their review of gene: CEP152: Added comment: Not skeletal dysplasia; Changed rating: RED
Skeletal dysplasia v0.404 CEP152 Chirag Patel commented on gene: CEP152
Skeletal dysplasia v0.404 Chirag Patel Copied gene CEP152 from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias
Skeletal dysplasia v0.404 CEP152 Chirag Patel gene: CEP152 was added
gene: CEP152 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP152 were set to 21131973
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, MIM# 613823; MONDO:0013443
Skeletal dysplasia v0.404 Chirag Patel Copied gene ATR from panel Mendeliome
Skeletal dysplasia v0.404 ATR Chirag Patel gene: ATR was added
gene: ATR was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928
Phenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel Marked gene: FLNB as ready
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel Gene: flnb has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.105 Chirag Patel Copied gene FLNB from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.105 FLNB Chirag Patel gene: FLNB was added
gene: FLNB was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460; Boomerang dysplasia 112310
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel Marked gene: GZF1 as ready
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel Gene: gzf1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.104 Chirag Patel Copied gene GZF1 from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.104 GZF1 Chirag Patel gene: GZF1 was added
gene: GZF1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863; 33009817
Phenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel Marked gene: B3GAT3 as ready
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel Gene: b3gat3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.103 Chirag Patel Copied gene B3GAT3 from panel Multiple joint dislocations and laxity
Aortopathy_Connective Tissue Disorders v1.103 B3GAT3 Chirag Patel gene: B3GAT3 was added
gene: B3GAT3 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services,Radboud University Medical Center, Nijmegen,NHS GMS,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl)
Skeletal Ciliopathies v1.20 Chirag Patel Panel name changed from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy to Skeletal Ciliopathies
Skeletal Ciliopathies v1.19 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Monogenic Diabetes v0.202 PCYT1A Chirag Patel Marked gene: PCYT1A as ready
Monogenic Diabetes v0.202 PCYT1A Chirag Patel Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.202 Chirag Patel Copied gene PCYT1A from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.202 PCYT1A Chirag Patel gene: PCYT1A was added
gene: PCYT1A was added to Monogenic Diabetes. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT1A were set to 24889630
Phenotypes for gene: PCYT1A were set to Lipodystrophy, congenital generalized, type 5, MIM# 620680
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel Marked gene: PLA2G16 as ready
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel Gene: pla2g16 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.201 Chirag Patel Copied gene PLA2G16 from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.201 PLA2G16 Chirag Patel gene: PLA2G16 was added
gene: PLA2G16 was added to Monogenic Diabetes. Sources: Expert Review Green,Literature
new gene name tags were added to gene: PLA2G16.
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to PMID: 37919452
Phenotypes for gene: PLA2G16 were set to Lipodystrophy, familial partial, type 9, MIM# 620683
Mendeliome v1.4253 AKT2 Chirag Patel commented on gene: AKT2
Lipodystrophy_Lipoatrophy v1.40 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.40 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Classified gene: AKT2 as Red List (low evidence)
Lipodystrophy_Lipoatrophy v1.39 AKT2 Chirag Patel Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.38 AKT2 Chirag Patel edited their review of gene: AKT2: Added comment: ClinGen LIMITED (Jan 2026)
https://search.clinicalgenome.org/CCID:009131; Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Marked gene: MT-TL1 as ready
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Gene: mt-tl1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.200 MT-TL1 Chirag Patel Publications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140
Monogenic Diabetes v0.199 MT-TL1 Chirag Patel reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14749274, 16019720; Phenotypes: MELAS syndrome, MONDO:0010789, Maternally-inherited diabetes and deafness, MONDO:0010785; Mode of inheritance: MITOCHONDRIAL
Monogenic Diabetes v0.199 Chirag Patel Copied gene MT-TL1 from panel Mendeliome
Monogenic Diabetes v0.199 MT-TL1 Chirag Patel gene: MT-TL1 was added
gene: MT-TL1 was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TL1.
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 9323566; 12221518; 20471262; 23220830; 23273904; 24338029; 23582502; 11271374; 23258140
Phenotypes for gene: MT-TL1 were set to Mitochondrial disease (MONDO:0044970), MT-TL1-related
Vasculitis v0.95 BMPR2 Sangavi Sivagnanasundram reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: None
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Marked gene: NFKB1 as ready
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Gene: nfkb1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Classified gene: NFKB1 as Red List (low evidence)
Monogenic Diabetes v0.198 NFKB1 Chirag Patel Gene: nfkb1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.197 NFKB1 Chirag Patel reviewed gene: NFKB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 12, MONDO:0014697; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.197 NFKB1 Chirag Patel Deleted their review
Monogenic Diabetes v0.197 NFKB1 Chirag Patel commented on gene: NFKB1
Monogenic Diabetes v0.197 Chirag Patel Copied gene NFKB1 from panel Mendeliome
Monogenic Diabetes v0.197 NFKB1 Chirag Patel gene: NFKB1 was added
gene: NFKB1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB1 were set to 26279205; 32278790; 27022143; 7834752
Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel Marked gene: MFN2 as ready
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.38 Chirag Patel Copied gene MFN2 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.38 MFN2 Chirag Patel gene: MFN2 was added
gene: MFN2 was added to Lipodystrophy_Lipoatrophy. Sources: Expert Review Green,ClinGen
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064
Phenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153
Monogenic Diabetes v0.196 MFN2 Chirag Patel Marked gene: MFN2 as ready
Monogenic Diabetes v0.196 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.196 MFN2 Chirag Patel Classified gene: MFN2 as Green List (high evidence)
Monogenic Diabetes v0.196 MFN2 Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.195 MFN2 Chirag Patel gene: MFN2 was added
gene: MFN2 was added to Monogenic Diabetes. Sources: ClinGen
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064
Phenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153
Review for gene: MFN2 was set to GREEN
Added comment: ClinGen DEFINITIVE (Sep 2025)
https://search.clinicalgenome.org/CCID:008970

All reported affected individuals carry p.Arg707Trp on one allele (they are either homozygous or compound het) - gnomAD v4.1 FAF 0.05440%
Sources: ClinGen
Monogenic Diabetes v0.194 ITCH Chirag Patel Marked gene: ITCH as ready
Monogenic Diabetes v0.194 ITCH Chirag Patel Gene: itch has been classified as Green List (High Evidence).
Monogenic Diabetes v0.194 ITCH Chirag Patel Publications for gene: ITCH were set to 20170897; 31091003; 32356405
Monogenic Diabetes v0.193 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897,30705142,33894394; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.193 ITCH Chirag Patel Deleted their review
Monogenic Diabetes v0.193 ITCH Chirag Patel changed review comment from: ClinGen DEFINITIVE (Oct 2025)
https://search.clinicalgenome.org/CCID:009048; to: ClinGen DEFINITIVE (Oct 2025)
https://search.clinicalgenome.org/CCID:009048

3 individuals from 3 unrelated families with type 1 diabetes (elevated islet-cell antibodies, GAD antibodies, and insulin autoantibodies) and multisystem autoimmune disease, dysmorphic features, and developmental abnormalities.
Monogenic Diabetes v0.193 Chirag Patel Copied gene ITCH from panel Mendeliome
Monogenic Diabetes v0.193 ITCH Chirag Patel gene: ITCH was added
gene: ITCH was added to Monogenic Diabetes. Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services
founder tags were added to gene: ITCH.
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITCH were set to 20170897; 31091003; 32356405
Phenotypes for gene: ITCH were set to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4253 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4252 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Mendeliome v1.4251 Chirag Patel Added reviews for gene ITCH from panel Disorders of immune dysregulation
Disorders of immune dysregulation v1.36 ITCH Chirag Patel Phenotypes for gene: ITCH were changed from to Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Disorders of immune dysregulation v1.35 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Deleted their review
Disorders of immune dysregulation v1.35 ITCH Chirag Patel reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Deleted their review
Disorders of immune dysregulation v1.35 ITCH Chirag Patel commented on gene: ITCH
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Mode of inheritance for gene: ITCH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.35 ITCH Chirag Patel Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v1.34 ITCH Chirag Patel Marked gene: ITCH as ready
Disorders of immune dysregulation v1.34 ITCH Chirag Patel Gene: itch has been classified as Green List (High Evidence).
Monogenic Diabetes v0.192 CTLA4 Chirag Patel Marked gene: CTLA4 as ready
Monogenic Diabetes v0.192 CTLA4 Chirag Patel Gene: ctla4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.192 CTLA4 Chirag Patel reviewed gene: CTLA4: Rating: ; Mode of pathogenicity: None; Publications: 33788257; Phenotypes: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, MONDO:0014493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.192 Chirag Patel Copied gene CTLA4 from panel Mendeliome
Monogenic Diabetes v0.192 CTLA4 Chirag Patel gene: CTLA4 was added
gene: CTLA4 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTLA4 were set to Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD
Mendeliome v1.4250 NEUROD1 Chirag Patel changed review comment from: ClinGen DEFINITIVE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.
Monogenic Diabetes v0.191 NEUROD1 Chirag Patel changed review comment from: ClinGen DEFINITIVE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.; to: ClinGen MODERATE (Mar 2021)
https://search.clinicalgenome.org/CCID:005622

At least 5 variants (missense and nonsense) have been reported in at least 8 probands in association with a phenotype consisting of neonatal diabetes, intrauterine growth retardation, cerebellar hypoplasia, sensorineural deafness, visual impairment, and intellectual disability. This gene-disease relationship is supported by functional assays, expression studies, and animal models.

Note: ClinGen LIMITED (Oct 2021) for autosomal dominant NEUROD1-related diabetes.
Monogenic Diabetes v0.191 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242; 20573748; 12200761; 30259503
Mendeliome v1.4250 NEUROD1 Chirag Patel Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes to Monogenic diabetes, MONDO:0015967; Retinitis pigmentosa
Mendeliome v1.4249 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 25477324; 25684977; 22784109; 29521454
Mendeliome v1.4248 Chirag Patel Added reviews for gene NEUROD1 from panel Monogenic Diabetes
Monogenic Diabetes v0.190 NEUROD1 Chirag Patel Phenotypes for gene: NEUROD1 were changed from maturity-onset diabetes of the young type 6 MONDO:0011668 to Monogenic diabetes, MONDO:0015967
Monogenic Diabetes v0.189 NEUROD1 Chirag Patel Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Monogenic Diabetes v0.188 NEUROD1 Chirag Patel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29521454, 20573748, 12200761, 30259503; Phenotypes: Monogenic diabetes, MONDO:0015967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4247 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221; 33836561; 33776068; 32502478; 22474227; 28768485
Lipodystrophy_Lipoatrophy v1.37 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18237401; 25898808; 11739396; 18211975; 27717241; 26176221
Mendeliome v1.4246 Chirag Patel Added reviews for gene CAV1 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.36 Chirag Patel Added reviews for gene CAV1 from panel Monogenic Diabetes
Monogenic Diabetes v0.188 CAV1 Chirag Patel Phenotypes for gene: CAV1 were changed from Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome to Congenital generalized lipodystrophy type 3, MONDO:0012923
Monogenic Diabetes v0.187 CAV1 Chirag Patel Publications for gene: CAV1 were set to 18211975
Monogenic Diabetes v0.186 CAV1 Chirag Patel Classified gene: CAV1 as Green List (high evidence)
Monogenic Diabetes v0.186 CAV1 Chirag Patel Gene: cav1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.185 CAV1 Chirag Patel reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18541701,34643546,11739396,12660144; Phenotypes: Congenital generalized lipodystrophy type 3, MONDO:0012923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.185 CNOT1 Chirag Patel Marked gene: CNOT1 as ready
Monogenic Diabetes v0.185 CNOT1 Chirag Patel Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.185 Chirag Patel Copied gene CNOT1 from panel Holoprosencephaly and septo-optic dysplasia
Monogenic Diabetes v0.185 CNOT1 Chirag Patel gene: CNOT1 was added
gene: CNOT1 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787
Monogenic Diabetes v0.184 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Monogenic Diabetes v0.184 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Mendeliome v1.4245 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Mendeliome v1.4245 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Marked gene: NSMCE2 as ready
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Growth failure v1.97 NSMCE2 Chirag Patel Marked gene: NSMCE2 as ready
Growth failure v1.97 NSMCE2 Chirag Patel Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Growth failure v1.97 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Monogenic Diabetes v0.184 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Microcephaly v1.410 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Mendeliome v1.4245 NSMCE2 Chirag Patel Phenotypes for gene: NSMCE2 were changed from SECKEL SYNDROME 10 to Seckel syndrome 10, MONDO:0014991
Monogenic Diabetes v0.183 Chirag Patel Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy
Monogenic Diabetes v0.183 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Monogenic Diabetes. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Mendeliome v1.4244 Chirag Patel Copied gene ADRA2A from panel Lipodystrophy_Lipoatrophy
Mendeliome v1.4244 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Mendeliome. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel Marked gene: ADRA2A as ready
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.35 ADRA2A Chirag Patel gene: ADRA2A was added
gene: ADRA2A was added to Lipodystrophy_Lipoatrophy. Sources: Genomics England PanelApp
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to Lipodystrophy, familial partial, type 8, OMIM #620679
Review for gene: ADRA2A was set to RED
Added comment: 3 affected members of an African American family with onset of atypical partial lipodystrophy around 13 to 15 years of age. As adults, all developed diabetes, hypertension, and hyperlipidemia with increased triglycerides. WES identified a heterozygous missense variant in ADRA2A (L68F), which was absent in ExAC or dbSNP databases and segregated with the disorder in the family. Two clinically unaffected children (3 and 8 years of age) who were younger than the age of symptom onset also carried the variant. Expression of the variant in HEK293 cells showed that the mutant ADRA2A protein was expressed and localized normally to the plasma membrane, but caused slightly increased cAMP production compared to wildtype. Differentiated adipose cells (3T3-L1) transfected with the mutation had a higher rate of basal lipolysis compared to controls, as evidenced by glycerol release. Synthesis of cAMP and lipolysis in cells carrying the variant were resistant to suppression by clonidine and not sensitive to yohimbine, suggesting that the variant results in a loss of function. The findings suggested that excessive lipolysis from certain adipose tissue deposits is the main mechanism causing the disorder.
Sources: Genomics England PanelApp
Monogenic Diabetes v0.182 Chirag Patel Copied gene NSMCE2 from panel Mendeliome
Monogenic Diabetes v0.182 NSMCE2 Chirag Patel gene: NSMCE2 was added
gene: NSMCE2 was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Microcephaly v1.409 Chirag Patel Added reviews for gene NSMCE2 from panel Mendeliome
Growth failure v1.96 Chirag Patel Copied gene NSMCE2 from panel Mendeliome
Growth failure v1.96 NSMCE2 Chirag Patel gene: NSMCE2 was added
gene: NSMCE2 was added to Growth failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Mendeliome v1.4243 NSMCE2 Chirag Patel reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 10, MONDO:0014991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel Marked gene: PPP1R3A as ready
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel Gene: ppp1r3a has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.181 Chirag Patel Copied gene PPP1R3A from panel Mendeliome
Monogenic Diabetes v0.181 PPP1R3A Chirag Patel gene: PPP1R3A was added
gene: PPP1R3A was added to Monogenic Diabetes. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R3A were set to 29948331; 12118251; 18232732
Phenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic 125853
Monogenic Diabetes v0.180 LIPE Chirag Patel Marked gene: LIPE as ready
Monogenic Diabetes v0.180 LIPE Chirag Patel Gene: lipe has been classified as Green List (High Evidence).
Monogenic Diabetes v0.180 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from LIPE-related familial partial lipodystrophy, MONDO:0014431 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Monogenic Diabetes v0.180 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Lipodystrophy_Lipoatrophy v1.34 LIPE Chirag Patel Phenotypes for gene: LIPE were changed from Lipodystrophy, familial partial, type 6, 615980 to LIPE-related familial partial lipodystrophy, MONDO:0014431
Monogenic Diabetes v0.179 Chirag Patel Copied gene LIPE from panel Mendeliome
Monogenic Diabetes v0.179 LIPE Chirag Patel gene: LIPE was added
gene: LIPE was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy_Lipoatrophy v1.33 Chirag Patel Added reviews for gene LIPE from panel Mendeliome
Mendeliome v1.4243 LIPE Chirag Patel reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIPE-related familial partial lipodystrophy, MONDO:0014431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel Marked gene: CAVIN1 as ready
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel Gene: cavin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.178 Chirag Patel Copied gene CAVIN1 from panel Mendeliome
Monogenic Diabetes v0.178 CAVIN1 Chirag Patel gene: CAVIN1 was added
gene: CAVIN1 was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CAVIN1.
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876; 20300641; 20684003; 18840361
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Monogenic Diabetes v0.177 WRN Chirag Patel Marked gene: WRN as ready
Monogenic Diabetes v0.177 WRN Chirag Patel Gene: wrn has been classified as Green List (High Evidence).
Monogenic Diabetes v0.177 WRN Chirag Patel Publications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406
Monogenic Diabetes v0.176 WRN Chirag Patel reviewed gene: WRN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.176 Chirag Patel Copied gene WRN from panel Mendeliome
Monogenic Diabetes v0.176 WRN Chirag Patel gene: WRN was added
gene: WRN was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 28476236; 8602509; 8968742; 9012406
Phenotypes for gene: WRN were set to Werner syndrome, MIM# 277700; MONDO:0010196
Intellectual disability syndromic and non-syndromic v1.654 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.175 RNU6ATAC Chirag Patel Marked gene: RNU6ATAC as ready
Monogenic Diabetes v0.175 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.653 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.652 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.366 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Microcephaly v1.408 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Microcephaly v1.407 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Monogenic Diabetes v0.175 BLM Chirag Patel Marked gene: BLM as ready
Monogenic Diabetes v0.175 BLM Chirag Patel Gene: blm has been classified as Green List (High Evidence).
Monogenic Diabetes v0.175 BLM Chirag Patel Publications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838
Monogenic Diabetes v0.174 BLM Chirag Patel reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301572; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.174 Chirag Patel Copied gene BLM from panel Mendeliome
Monogenic Diabetes v0.174 BLM Chirag Patel gene: BLM was added
gene: BLM was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLM were set to 17407155; 9285778; 7585968; 8079989; 12242442; 11101838
Phenotypes for gene: BLM were set to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies
Monogenic Diabetes v0.173 Chirag Patel Copied gene RNU6ATAC from panel Mendeliome
Monogenic Diabetes v0.173 RNU6ATAC Chirag Patel gene: RNU6ATAC was added
gene: RNU6ATAC was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature
non-coding gene tags were added to gene: RNU6ATAC.
Mode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU6ATAC were set to 40975062
Phenotypes for gene: RNU6ATAC were set to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Microcephaly v1.407 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.652 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.366 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Monogenic Diabetes v0.172 TARS2 Chirag Patel Marked gene: TARS2 as ready
Monogenic Diabetes v0.172 TARS2 Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.172 TARS2 Chirag Patel Classified gene: TARS2 as Amber List (moderate evidence)
Monogenic Diabetes v0.172 TARS2 Chirag Patel Gene: tars2 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.171 TARS2 Chirag Patel gene: TARS2 was added
gene: TARS2 was added to Monogenic Diabetes. Sources: Expert List
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS2 were set to 39509107
Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation defect type 21, MONDO:0014398
Review for gene: TARS2 was set to AMBER
Added comment: 4 individuals diagnosed with diabetes (3 neonatal and 1 at 52 weeks) shared a rare homozygous missense variant c.980G>A, p.(Arg327Gln), in TARS2. One proband had epilepsy, one had development delay and two had both. On haplotype analysis, individuals 1, 3 and 4 shared a 1.8 Mb region (including TARS2), indicating inheritance from a common ancestor. Individual 2 did not share a haplotype. The reported variant is rare (9 alleles in gnomAD v4.1.0, no homozygotes); Revel score = 0.32, Uncertain. Authors hypothesise that homozygous missense variants specifically in the TARS2 301‐381aa region may impair binding of TARS2 to Rag GTPases and disrupt the mTORC1 signalling pathway, leading to β‐cell dysfunction.
Sources: Expert List
Microcephaly v1.406 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Microcephaly v1.406 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4243 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Mendeliome v1.4243 RNU6ATAC Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Mendeliome v1.4242 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Mendeliome v1.4242 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4241 RNU6ATAC Chirag Patel reviewed gene: RNU6ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes, humoral immunue defect, microcephaly, developmental delay.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.170 RNU4ATAC Chirag Patel reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.170 Chirag Patel Copied gene RNU4ATAC from panel Mendeliome
Monogenic Diabetes v0.170 RNU4ATAC Chirag Patel gene: RNU4ATAC was added
gene: RNU4ATAC was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services
non-coding gene tags were added to gene: RNU4ATAC.
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 23794361; 26522830; 30455926; 29265708; 12605445
Phenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Monogenic Diabetes v0.169 DUT Chirag Patel Marked gene: DUT as ready
Monogenic Diabetes v0.169 DUT Chirag Patel Gene: dut has been classified as Green List (High Evidence).
Monogenic Diabetes v0.169 Chirag Patel Copied gene DUT from panel Bone Marrow Failure
Monogenic Diabetes v0.169 DUT Chirag Patel gene: DUT was added
gene: DUT was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Mendeliome v1.4241 STAT1 Chirag Patel Phenotypes for gene: STAT1 were changed from Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162 to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599
Mendeliome v1.4240 Chirag Patel Added reviews for gene STAT1 from panel Monogenic Diabetes
Monogenic Diabetes v0.168 STAT1 Chirag Patel Publications for gene: STAT1 were set to 23534974; 33027576
Monogenic Diabetes v0.167 STAT1 Chirag Patel Classified gene: STAT1 as Green List (high evidence)
Monogenic Diabetes v0.167 STAT1 Chirag Patel Gene: stat1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.166 STAT1 Chirag Patel reviewed gene: STAT1: 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: 23534974, 27114460; Phenotypes: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4239 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4239 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Mendeliome v1.4238 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292
Mendeliome v1.4237 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Mendeliome v1.4237 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from PLIN1-related familial partial lipodystrophy, MONDO:0013478 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Lipodystrophy_Lipoatrophy v1.32 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 25114292; 29747582; 31504636; 11371650; 30020498
Lipodystrophy_Lipoatrophy v1.31 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, MIM# 613877 to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Lipodystrophy_Lipoatrophy v1.31 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 21345103; 31504636; 30020498; 25114292
Lipodystrophy_Lipoatrophy v1.30 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.30 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.166 PLIN1 Chirag Patel Tag disputed was removed from gene: PLIN1.
Mendeliome v1.4236 Chirag Patel Added reviews for gene PLIN1 from panel Monogenic Diabetes
Lipodystrophy_Lipoatrophy v1.29 Chirag Patel Added reviews for gene PLIN1 from panel Monogenic Diabetes
Monogenic Diabetes v0.166 PLIN1 Chirag Patel Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to PLIN1-related familial partial lipodystrophy, MONDO:0013478
Monogenic Diabetes v0.165 PLIN1 Chirag Patel Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Monogenic Diabetes v0.164 PLIN1 Chirag Patel Classified gene: PLIN1 as Green List (high evidence)
Monogenic Diabetes v0.164 PLIN1 Chirag Patel Gene: plin1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.163 PLIN1 Chirag Patel reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21345103, 25114292, 29747582, 31504636, 11371650; Phenotypes: PLIN1-related familial partial lipodystrophy, MONDO:0013478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.163 AKT2 Chirag Patel reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.163 AKT2 Chirag Patel Deleted their review
Monogenic Diabetes v0.163 AKT2 Chirag Patel Deleted their comment
Monogenic Diabetes v0.163 APPL1 Chirag Patel reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.163 AKT2 Chirag Patel changed review comment from: ClinGen LIMITED (Jan 2026)

https://search.clinicalgenome.org/CCID:009131; to: ClinGen LIMITED (Jan 2026)
https://search.clinicalgenome.org/CCID:009131
Monogenic Diabetes v0.163 AKT2 Chirag Patel commented on gene: AKT2
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; to: Association with hypotrichosis: missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Comment when marking as ready: Association with IBD -- two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model. GREEN for this MOI/association.
Mendeliome v1.4235 ADAM17 Zornitza Stark changed review comment from: Comment when marking as ready: Two families and a mouse model.; to: Comment when marking as ready: Association with IBD -- two families and a mouse model.
Mendeliome v1.4235 ADAM17 Zornitza Stark edited their review of gene: ADAM17: Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model. RED for this MOI.; Changed rating: RED; Changed publications: 38771644; Changed phenotypes: Hypotrichosis 16, MIM# 621490; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.83 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Hair disorders v0.83 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Hair disorders v0.83 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: ADAM17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAM17 were set to 38771644
Phenotypes for gene: ADAM17 were set to Hypotrichosis 16, MIM# 621490
Review for gene: ADAM17 was set to RED
Added comment: Missense variant identified in 7 individuals from a 4-generation family. Supportive mouse model.
Sources: Literature
Fetal anomalies v1.526 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to neurodevNeurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Fetal anomalies v1.525 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.651 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Intellectual disability syndromic and non-syndromic v1.650 KDM2B Zornitza Stark edited their review of gene: KDM2B: Changed phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Mendeliome v1.4235 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.523 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Congenital Heart Defect v0.522 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.162 KDM2B Zornitza Stark Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder MONDO#0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.161 KDM2B Zornitza Stark reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v1.56 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Hereditary Neuropathy v1.55 COX18 Zornitza Stark edited their review of gene: COX18: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mitochondrial disease v1.14 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mitochondrial disease v1.13 COX18 Zornitza Stark reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4235 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mendeliome v1.4234 COX18 Zornitza Stark reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4234 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease
Mendeliome v1.4234 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease to Congenital heart disease
Mendeliome v1.4233 FOXH1 Chirag Patel Phenotypes for gene: FOXH1 were changed from Congenital heart disease; holoprosencephaly to Congenital heart disease
Intellectual disability syndromic and non-syndromic v1.650 Sarah Milton Copied Region ISCA-37448-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.650 ISCA-37448-Loss Sarah Milton Region: ISCA-37448-Loss was added
Region: ISCA-37448-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656
Penetrance for Region: ISCA-37448-Loss were set to Incomplete
Mendeliome v1.4232 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to 26740508; 26539891; 29249292; 37841849
Mendeliome v1.4231 SMARCA1 Zornitza Stark edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919
Intellectual disability syndromic and non-syndromic v1.649 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to 37841849
Intellectual disability syndromic and non-syndromic v1.648 SMARCA1 Zornitza Stark edited their review of gene: SMARCA1: Added comment: Now published.; Changed publications: 37841849, 41213919
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46299-Gain Zornitza Stark Marked Region: ISCA-46299-Gain as ready
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Autism v0.243 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Autism v0.243 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Autism v0.243 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Autism v0.243 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Fetal anomalies v1.525 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Marked Region: ISCA-46300-Loss as ready
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Classified Region: ISCA-46300-Loss as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.648 ISCA-46300-Loss Zornitza Stark Region: isca-46300-loss has been classified as Green List (High Evidence).
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Marked Region: ISCA-46302-Gain as ready
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Region: isca-46302-gain has been classified as Green List (High Evidence).
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Classified Region: ISCA-46302-Gain as Green List (high evidence)
Differences of Sex Development v1.38 ISCA-46302-Gain Zornitza Stark Region: isca-46302-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.155 ISCA-46304-Gain Zornitza Stark Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Common deletion and duplication syndromes v0.154 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.154 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.647 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Marked Region: ISCA-46743-Gain as ready
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Classified Region: ISCA-46743-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.153 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Marked Region: ISCA-46743-Gain as ready
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Classified Region: ISCA-46743-Gain as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.646 ISCA-46743-Gain Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.645 Sarah Milton Copied Region ISCA-46743-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.645 ISCA-46743-Gain Sarah Milton Region: ISCA-46743-Gain was added
Region: ISCA-46743-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979
Common deletion and duplication syndromes v0.152 ISCA-46743-Gain Sarah Milton Phenotypes for Region: ISCA-46743-Gain were changed from Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome to Xq25 duplication syndrome, MIM#300979
Intellectual disability syndromic and non-syndromic v1.644 Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.644 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Genetic Epilepsy v1.364 Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.364 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Genetic Epilepsy. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Common deletion and duplication syndromes v0.151 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Review for Region: ISCA-46304-Gain was set to GREEN
Added comment: Known Clingen triplosensitive region containing MECP2 and IRAK1. Associated with intellectual disability, seizures, hypotonia, mild dysmorphism. Typically affects males but females may be mildly affected.
Sources: ClinGen
Differences of Sex Development v1.37 Sarah Milton Copied Region ISCA-46302-Gain from panel Common deletion and duplication syndromes
Differences of Sex Development v1.37 ISCA-46302-Gain Sarah Milton Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Differences of Sex Development. Sources: ClinGen
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226
Intellectual disability syndromic and non-syndromic v1.643 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.643 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Fetal anomalies v1.524 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.524 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Fetal anomalies. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Autism v0.242 Sarah Milton Copied Region ISCA-46300-Loss from panel Common deletion and duplication syndromes
Autism v0.242 ISCA-46300-Loss Sarah Milton Region: ISCA-46300-Loss was added
Region: ISCA-46300-Loss was added to Autism. Sources: ClinGen
Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256
Intellectual disability syndromic and non-syndromic v1.642 Sarah Milton Copied Region ISCA-46299-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.642 ISCA-46299-Gain Sarah Milton Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-46299-Gain.
Mode of inheritance for Region: ISCA-46299-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-46299-Gain were set to PMID: 22840365
Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705
Mendeliome v1.4231 Chirag Patel Added reviews for gene KDM1A from panel Primary nodular adrenocortical disease
Primary nodular adrenocortical disease v0.15 KDM1A Chirag Patel Classified gene: KDM1A as Green List (high evidence)
Primary nodular adrenocortical disease v0.15 KDM1A Chirag Patel Gene: kdm1a has been classified as Green List (High Evidence).
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel Marked gene: KDM1A as ready
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel Gene: kdm1a has been classified as Red List (Low Evidence).
Primary nodular adrenocortical disease v0.14 KDM1A Chirag Patel gene: KDM1A was added
gene: KDM1A was added to Primary nodular adrenocortical disease. Sources: Literature
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM1A were set to 34655521, 34906447
Phenotypes for gene: KDM1A were set to ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299
Review for gene: KDM1A was set to GREEN
Added comment: Numerous cases reported and established gene-disease association.
Sources: Literature
Primary nodular adrenocortical disease v0.13 Chirag Patel Panel name changed from Primary pigmented nodular adrenocortical disease to Primary nodular adrenocortical disease
HPO terms changed from Pigmented micronodular adrenocortical disease, HP:0001580 to Pigmented micronodular adrenocortical disease, HP:0001580; Macronodular adrenal hyperplasia, HP:0008231
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark Marked gene: MYADML2 as ready
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.102 Zornitza Stark Copied gene MYADML2 from panel Mendeliome
Aortopathy_Connective Tissue Disorders v1.102 MYADML2 Zornitza Stark gene: MYADML2 was added
gene: MYADML2 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert Review Red,Literature
SV/CNV tags were added to gene: MYADML2.
Mode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYADML2 were set to 32778762
Phenotypes for gene: MYADML2 were set to MYADML2-related connective tissue disroder MONDO:0003900
Mendeliome v1.4230 MYADML2 Zornitza Stark Phenotypes for gene: MYADML2 were changed from Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles to MYADML2-related connective tissue disroder MONDO:0003900
Mendeliome v1.4229 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mitochondrial disease v1.13 OXA1L Zornitza Stark Phenotypes for gene: OXA1L were changed from encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mitochondrial disease v1.12 OXA1L Zornitza Stark edited their review of gene: OXA1L: Changed phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mendeliome v1.4228 OXA1L Zornitza Stark Phenotypes for gene: OXA1L were changed from Encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Fetal anomalies v1.523 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities; early neonatal death to PAICS deficiency MONDO:0859003
Fetal anomalies v1.522 PAICS Zornitza Stark edited their review of gene: PAICS: Changed phenotypes: PAICS deficiency MONDO:0859003
Mendeliome v1.4227 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to PAICS deficiency MONDO:0859003
Mendeliome v1.4226 PAX3 Zornitza Stark Publications for gene: PAX3 were set to 20301703; 30854529
Mendeliome v1.4225 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4224 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Mendeliome v1.4223 DARS2 Zornitza Stark Publications for gene: DARS2 were set to 17384640; 15002045; 16788019
Mendeliome v1.4222 DARS2 Zornitza Stark edited their review of gene: DARS2: Added comment: PMID 40814755 reports 5 individuals from 3 unrelated families with CMT.; Changed publications: 17384640, 15002045, 16788019, 40814755; Changed phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105, Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Hereditary Neuropathy v1.55 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings to Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485
Hereditary Neuropathy v1.54 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Hereditary Neuropathy v1.53 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40814755; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.418 XK Zornitza Stark Marked gene: XK as ready
Incidentalome v0.418 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Incidentalome v0.418 XK Zornitza Stark Phenotypes for gene: XK were changed from to McLeod Syndrome with or without chronic granulomatous disease (MIM#300842)
Incidentalome v0.417 XK Zornitza Stark Publications for gene: XK were set to
Incidentalome v0.416 XK Zornitza Stark Mode of inheritance for gene: XK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v1.363 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark edited their review of gene: STXBP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark changed review comment from: Note recent report of BIALLELIC variants in this gene causing EE through GoF in two families.; to: Note recent report of BIALLELIC variants in this gene causing EE through GoF in one family. RED for this MOI.
Early-onset Dementia v1.55 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Early-onset Dementia v1.55 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Early-onset Dementia v1.55 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Intellectual disability syndromic and non-syndromic v1.641 SPART Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome; OMIM #275900 to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Intellectual disability syndromic and non-syndromic v1.640 SPART Zornitza Stark Publications for gene: SPART were set to PMID: 26003402; 28679690; 27112432; 20437587; 12134148; 18413476; 31314595; 28875386
Mendeliome v1.4222 SPART Zornitza Stark Marked gene: SPART as ready
Mendeliome v1.4222 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Mendeliome v1.4222 Zornitza Stark Copied gene SPART from panel Hereditary Spastic Paraplegia
Mendeliome v1.4222 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Mendeliome. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 12134148; 20437587; 26003402; 27112432; 31535723; 31535723; 28875386; 28679690
Phenotypes for gene: SPART were set to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156
Intellectual disability syndromic and non-syndromic v1.639 Zornitza Stark Added reviews for gene SPART from panel Hereditary Spastic Paraplegia
Incidentalome v0.415 SPART Zornitza Stark reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.415 SPART Zornitza Stark Classified gene: SPART as No list
Incidentalome v0.415 SPART Zornitza Stark Gene: spart has been removed from the panel.
Mendeliome v1.4221 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4221 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Mendeliome v1.4221 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Mendeliome v1.4221 Zornitza Stark Copied gene SCN1B from panel Genetic Epilepsy
Mendeliome v1.4221 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Mendeliome. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Epilepsy Flagship
Mode of inheritance for gene: SCN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN1B were set to 19710327; 28218389; 23148524
Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Incidentalome v0.414 SCN1B Zornitza Stark Classified gene: SCN1B as No list
Incidentalome v0.414 SCN1B Zornitza Stark Gene: scn1b has been removed from the panel.
Incidentalome v0.413 SCN1B Zornitza Stark reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.413 PRKN Zornitza Stark Marked gene: PRKN as ready
Incidentalome v0.413 PRKN Zornitza Stark Gene: prkn has been classified as Green List (High Evidence).
Incidentalome v0.413 PRKN Zornitza Stark Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116
Incidentalome v0.412 PRKN Zornitza Stark Publications for gene: PRKN were set to
Incidentalome v0.411 PRKN Zornitza Stark Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.410 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Incidentalome v0.410 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Incidentalome v0.410 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mismatch repair cancer syndrome 4, MIM# 619101
Incidentalome v0.409 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.408 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337, Mismatch repair cancer syndrome 4, MIM# 619101
Incidentalome v0.408 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.408 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Incidentalome v0.408 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Incidentalome v0.408 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset MIM#605909
Incidentalome v0.407 PINK1 Zornitza Stark Publications for gene: PINK1 were set to
Incidentalome v0.406 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.405 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Incidentalome v0.405 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Incidentalome v0.405 PARK7 Zornitza Stark Phenotypes for gene: PARK7 were changed from to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to 11462174; 11835383; 16240358; 20301402; 29644727
Incidentalome v0.404 PARK7 Zornitza Stark Publications for gene: PARK7 were set to
Incidentalome v0.403 PARK7 Zornitza Stark Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4220 GGCX Zornitza Stark Phenotypes for gene: GGCX were changed from Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450; pulmonary arterial hypertension MONDO:0015924
Mendeliome v1.4219 GGCX Zornitza Stark Publications for gene: GGCX were set to 32785662; 30531603; 26758921
Mendeliome v1.4218 GGCX Zornitza Stark Mode of inheritance for gene: GGCX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4217 Zornitza Stark Added reviews for gene GGCX from panel Pulmonary Arterial Hypertension
Mendeliome v1.4216 ARHGAP19 Zornitza Stark Phenotypes for gene: ARHGAP19 were changed from Motor Peripheral Neuropathy; MONDO:0002316; ARHGAP19 related to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466
Mendeliome v1.4215 ARHGAP19 Zornitza Stark reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v1.9 LRP5 Sangavi Sivagnanasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12172548, 12579474; Phenotypes: LRP5-related exudative vitreoretinopathy MONDO:0700228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.161 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Monogenic Diabetes v0.160 AIRE Chirag Patel Marked gene: AIRE as ready
Monogenic Diabetes v0.160 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Monogenic Diabetes v0.160 Chirag Patel Copied gene AIRE from panel Adrenal insufficiency
Monogenic Diabetes v0.160 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Monogenic Diabetes. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Adrenal insufficiency v0.57 Chirag Patel Panel status changed from internal to public
Adrenal insufficiency v0.56 SIX3 Chirag Patel Marked gene: SIX3 as ready
Adrenal insufficiency v0.56 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 GPR161 Chirag Patel Marked gene: GPR161 as ready
Adrenal insufficiency v0.56 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Adrenal insufficiency v0.56 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 SHH Chirag Patel Marked gene: SHH as ready
Adrenal insufficiency v0.56 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RBM28 Chirag Patel Marked gene: RBM28 as ready
Adrenal insufficiency v0.56 RBM28 Chirag Patel Gene: rbm28 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 RAX Chirag Patel Marked gene: RAX as ready
Adrenal insufficiency v0.56 RAX Chirag Patel Gene: rax has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 MCM4 Chirag Patel Marked gene: MCM4 as ready
Adrenal insufficiency v0.56 MCM4 Chirag Patel Gene: mcm4 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Marked gene: KCNQ1 as ready
Adrenal insufficiency v0.56 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Marked gene: ESRP2 as ready
Adrenal insufficiency v0.56 ESRP2 Chirag Patel Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 CDON Chirag Patel Marked gene: CDON as ready
Adrenal insufficiency v0.56 CDON Chirag Patel Gene: cdon has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Adrenal insufficiency v0.56 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Marked gene: ZRSR2 as ready
Adrenal insufficiency v0.56 ZRSR2 Chirag Patel Gene: zrsr2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBX19 Chirag Patel Marked gene: TBX19 as ready
Adrenal insufficiency v0.56 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Marked gene: TBC1D32 as ready
Adrenal insufficiency v0.56 TBC1D32 Chirag Patel Gene: tbc1d32 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 STAR Chirag Patel Marked gene: STAR as ready
Adrenal insufficiency v0.56 STAR Chirag Patel Gene: star has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SOX3 Chirag Patel Marked gene: SOX3 as ready
Adrenal insufficiency v0.56 SOX3 Chirag Patel Gene: sox3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Marked gene: SGPL1 as ready
Adrenal insufficiency v0.56 SGPL1 Chirag Patel Gene: sgpl1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Marked gene: SAMD9 as ready
Adrenal insufficiency v0.56 SAMD9 Chirag Patel Gene: samd9 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Marked gene: ROBO1 as ready
Adrenal insufficiency v0.56 ROBO1 Chirag Patel Gene: robo1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POR Chirag Patel Marked gene: POR as ready
Adrenal insufficiency v0.56 POR Chirag Patel Gene: por has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 POMC Chirag Patel Marked gene: POMC as ready
Adrenal insufficiency v0.56 POMC Chirag Patel Gene: pomc has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Marked gene: PCSK1 as ready
Adrenal insufficiency v0.56 PCSK1 Chirag Patel Gene: pcsk1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 OTX2 Chirag Patel Marked gene: OTX2 as ready
Adrenal insufficiency v0.56 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Marked gene: NR5A1 as ready
Adrenal insufficiency v0.56 NR5A1 Chirag Patel Gene: nr5a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Adrenal insufficiency v0.56 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NNT Chirag Patel Marked gene: NNT as ready
Adrenal insufficiency v0.56 NNT Chirag Patel Gene: nnt has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MRAP Chirag Patel Marked gene: MRAP as ready
Adrenal insufficiency v0.56 MRAP Chirag Patel Gene: mrap has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 MC2R Chirag Patel Marked gene: MC2R as ready
Adrenal insufficiency v0.56 MC2R Chirag Patel Gene: mc2r has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LIPA Chirag Patel Marked gene: LIPA as ready
Adrenal insufficiency v0.56 LIPA Chirag Patel Gene: lipa has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX4 Chirag Patel Marked gene: LHX4 as ready
Adrenal insufficiency v0.56 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 LHX3 Chirag Patel Marked gene: LHX3 as ready
Adrenal insufficiency v0.56 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Adrenal insufficiency v0.56 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HID1 Chirag Patel Marked gene: HID1 as ready
Adrenal insufficiency v0.56 HID1 Chirag Patel Gene: hid1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 HESX1 Chirag Patel Marked gene: HESX1 as ready
Adrenal insufficiency v0.56 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI3 Chirag Patel Marked gene: GLI3 as ready
Adrenal insufficiency v0.56 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 GLI2 Chirag Patel Marked gene: GLI2 as ready
Adrenal insufficiency v0.56 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Marked gene: CYP21A2 as ready
Adrenal insufficiency v0.56 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Marked gene: CYP17A1 as ready
Adrenal insufficiency v0.56 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Marked gene: CYP11B2 as ready
Adrenal insufficiency v0.56 CYP11B2 Chirag Patel Gene: cyp11b2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Marked gene: CYP11B1 as ready
Adrenal insufficiency v0.56 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Marked gene: CYP11A1 as ready
Adrenal insufficiency v0.56 CYP11A1 Chirag Patel Gene: cyp11a1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Marked gene: CDKN1C as ready
Adrenal insufficiency v0.56 CDKN1C Chirag Patel Gene: cdkn1c has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AIRE Chirag Patel Marked gene: AIRE as ready
Adrenal insufficiency v0.56 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Marked gene: ABCD1 as ready
Adrenal insufficiency v0.56 ABCD1 Chirag Patel Gene: abcd1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 AAAS Chirag Patel Marked gene: AAAS as ready
Adrenal insufficiency v0.56 AAAS Chirag Patel Gene: aaas has been classified as Green List (High Evidence).
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Adrenal insufficiency v0.56 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Marked gene: NFKB2 as ready
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel Gene: nfkb2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.173 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Pituitary hormone deficiency v0.173 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Adrenal insufficiency v0.56 Chirag Patel Copied gene NFKB2 from panel Mendeliome
Adrenal insufficiency v0.56 NFKB2 Chirag Patel gene: NFKB2 was added
gene: NFKB2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 24140114; 24888602; 25524009; 31417880
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Adrenal insufficiency v0.55 POLE Chirag Patel Marked gene: POLE as ready
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.55 POLE Chirag Patel Classified gene: POLE as Green List (high evidence)
Adrenal insufficiency v0.55 POLE Chirag Patel Gene: pole has been classified as Green List (High Evidence).
Adrenal insufficiency v0.54 POLE Chirag Patel gene: POLE was added
gene: POLE was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519
Phenotypes for gene: POLE were set to IMAGE-I syndrome, MONDO:0032684
Review for gene: POLE was set to GREEN
Added comment: IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
15 individuals from 12 families reported with a recurrent intronic variant (c.1686+32C-G, intron 15) found in combination with multiple other variants.
Sources: Literature
Mendeliome v1.4215 APPL1 Zornitza Stark Publications for gene: APPL1 were set to 26073777; 36208030
Mendeliome v1.4214 APPL1 Zornitza Stark reviewed gene: APPL1: Rating: RED; Mode of pathogenicity: None; Publications: 40779032; Phenotypes: ; Mode of inheritance: None
Adrenal insufficiency v0.53 LIPA Chirag Patel commented on gene: LIPA
Adrenal insufficiency v0.53 Chirag Patel Copied gene LIPA from panel Mendeliome
Adrenal insufficiency v0.53 LIPA Chirag Patel gene: LIPA was added
gene: LIPA was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: LIPA.
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 11487567
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204
Adrenal insufficiency v0.52 PEX1 Chirag Patel Marked gene: PEX1 as ready
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.52 PEX1 Chirag Patel Classified gene: PEX1 as Green List (high evidence)
Adrenal insufficiency v0.52 PEX1 Chirag Patel Gene: pex1 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.51 PEX1 Chirag Patel gene: PEX1 was added
gene: PEX1 was added to Adrenal insufficiency. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100
Review for gene: PEX1 was set to GREEN
Added comment: Well established gene-disease association. Small adrenals is a feature of the condition.
Sources: Literature
Adrenal insufficiency v0.50 Chirag Patel Added reviews for gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.49 Chirag Patel Copied gene NR5A1 from panel Differences of Sex Development
Adrenal insufficiency v0.49 NR5A1 Chirag Patel gene: NR5A1 was added
gene: NR5A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NR5A1 were set to 31513305; 38650427; 20453312
Phenotypes for gene: NR5A1 were set to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)
Mendeliome v1.4214 Chirag Patel Added reviews for gene AIRE from panel Disorders of immune dysregulation
Adrenal insufficiency v0.48 Chirag Patel Copied gene AIRE from panel Disorders of immune dysregulation
Adrenal insufficiency v0.48 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Adrenal insufficiency. Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Adrenal insufficiency v0.47 Chirag Patel Copied gene SGPL1 from panel Mendeliome
Adrenal insufficiency v0.47 SGPL1 Chirag Patel gene: SGPL1 was added
gene: SGPL1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to RENI syndrome (MIM#617575)
Adrenal insufficiency v0.46 Chirag Patel Copied gene ABCD1 from panel Mendeliome
Adrenal insufficiency v0.46 ABCD1 Chirag Patel gene: ABCD1 was added
gene: ABCD1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy MIM#300100
Adrenal insufficiency v0.45 Chirag Patel Copied gene MCM4 from panel Mendeliome
Adrenal insufficiency v0.45 MCM4 Chirag Patel gene: MCM4 was added
gene: MCM4 was added to Adrenal insufficiency. Sources: Expert Review Amber,Victorian Clinical Genetics Services
founder tags were added to gene: MCM4.
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM4 were set to 22354167; 22354170; 22499342
Phenotypes for gene: MCM4 were set to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy
Adrenal insufficiency v0.44 Chirag Patel Copied gene AAAS from panel Prepair 1000+
Adrenal insufficiency v0.44 AAAS Chirag Patel gene: AAAS was added
gene: AAAS was added to Adrenal insufficiency. Sources: Expert Review Green,Mackenzie's Mission
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 29255950
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Adrenal insufficiency v0.43 SAMD9 Chirag Patel commented on gene: SAMD9
Adrenal insufficiency v0.43 Chirag Patel Copied gene SAMD9 from panel Differences of Sex Development
Adrenal insufficiency v0.43 SAMD9 Chirag Patel gene: SAMD9 was added
gene: SAMD9 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome (MIM#617053)
Mendeliome v1.4213 GINS4 Zornitza Stark Publications for gene: GINS4 were set to 36345943
Mendeliome v1.4212 GINS4 Zornitza Stark Classified gene: GINS4 as Amber List (moderate evidence)
Mendeliome v1.4212 GINS4 Zornitza Stark Gene: gins4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4211 GINS4 Zornitza Stark reviewed gene: GINS4: Rating: AMBER; Mode of pathogenicity: None; Publications: 39914554, 40510848; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: None
Adrenal insufficiency v0.42 WNT4 Chirag Patel Marked gene: WNT4 as ready
Adrenal insufficiency v0.42 WNT4 Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence).
Adrenal insufficiency v0.42 WNT4 Chirag Patel gene: WNT4 was added
gene: WNT4 was added to Adrenal insufficiency. Sources: Expert List
Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL syndrome, OMIM #611812
Review for gene: WNT4 was set to RED
Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome with adrenal anomalies has only been described in a single consanguineous kindred with four affected fetuses (A114V variant).
Sources: Expert List
Combined Immunodeficiency v1.142 GINS4 Zornitza Stark Publications for gene: GINS4 were set to 36345943
Combined Immunodeficiency v1.141 GINS4 Zornitza Stark Classified gene: GINS4 as Amber List (moderate evidence)
Combined Immunodeficiency v1.141 GINS4 Zornitza Stark Gene: gins4 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark edited their review of gene: GINS4: Changed rating: AMBER
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark changed review comment from: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; to: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports further studies on the previously reported siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.
Combined Immunodeficiency v1.140 GINS4 Zornitza Stark edited their review of gene: GINS4: Added comment: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features.

PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; Changed publications: 39914554, 40510848
Adrenal insufficiency v0.41 Chirag Patel Copied gene NNT from panel Mendeliome
Adrenal insufficiency v0.41 NNT Chirag Patel gene: NNT was added
gene: NNT was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361; 40709434
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Adrenal insufficiency v0.40 Chirag Patel Copied gene MRAP from panel Mendeliome
Adrenal insufficiency v0.40 MRAP Chirag Patel gene: MRAP was added
gene: MRAP was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRAP were set to 15654338
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398
Adrenal insufficiency v0.39 Chirag Patel Copied gene MC2R from panel Mendeliome
Adrenal insufficiency v0.39 MC2R Chirag Patel gene: MC2R was added
gene: MC2R was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: MC2R.
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MC2R were set to 8094489; 8227361
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Adrenal insufficiency v0.38 PCSK1 Chirag Patel commented on gene: PCSK1
Adrenal insufficiency v0.38 Chirag Patel Copied gene PCSK1 from panel Mendeliome
Adrenal insufficiency v0.38 PCSK1 Chirag Patel gene: PCSK1 was added
gene: PCSK1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCSK1 were set to 30383237
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing MIM#600955
Adrenal insufficiency v0.37 Chirag Patel Copied gene POMC from panel Mendeliome
Adrenal insufficiency v0.37 POMC Chirag Patel gene: POMC was added
gene: POMC was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMC were set to 33666293
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Mendeliome v1.4211 CSNK1E Zornitza Stark Publications for gene: CSNK1E were set to 30488659
Mendeliome v1.4210 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262
Genetic Epilepsy v1.362 CSNK1E Zornitza Stark Publications for gene: CSNK1E were set to 30488659
Adrenal insufficiency v0.36 Chirag Patel Copied gene SIX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.36 SIX3 Chirag Patel gene: SIX3 was added
gene: SIX3 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX3 were set to 35951005
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762
Genetic Epilepsy v1.361 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262
Adrenal insufficiency v0.35 Chirag Patel Copied gene GPR161 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.35 GPR161 Chirag Patel gene: GPR161 was added
gene: GPR161 was added to Adrenal insufficiency. Sources: Expert Review Red,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related
Adrenal insufficiency v0.34 Chirag Patel Copied gene TGIF1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.34 TGIF1 Chirag Patel gene: TGIF1 was added
gene: TGIF1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGIF1 were set to 23476075, 34440302
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4, MONDO:0007734
Adrenal insufficiency v0.33 Chirag Patel Copied gene SHH from panel Pituitary hormone deficiency
Adrenal insufficiency v0.33 SHH Chirag Patel gene: SHH was added
gene: SHH was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHH were set to 22897141
Phenotypes for gene: SHH were set to Hypopituitarism, MONDO:0005152; Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Adrenal insufficiency v0.32 Chirag Patel Copied gene RBM28 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.32 RBM28 Chirag Patel gene: RBM28 was added
gene: RBM28 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 20231366; 18439547; 33941690
Phenotypes for gene: RBM28 were set to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Adrenal insufficiency v0.31 Chirag Patel Copied gene RAX from panel Pituitary hormone deficiency
Adrenal insufficiency v0.31 RAX Chirag Patel gene: RAX was added
gene: RAX was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 30811539, 40321348
Phenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038
Adrenal insufficiency v0.30 Chirag Patel Copied gene KCNQ1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.30 KCNQ1 Chirag Patel gene: KCNQ1 was added
gene: KCNQ1 was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500)
Adrenal insufficiency v0.29 Chirag Patel Copied gene ESRP2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.29 ESRP2 Chirag Patel gene: ESRP2 was added
gene: ESRP2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152
Adrenal insufficiency v0.28 Chirag Patel Copied gene CDON from panel Pituitary hormone deficiency
Adrenal insufficiency v0.28 CDON Chirag Patel gene: CDON was added
gene: CDON was added to Adrenal insufficiency. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063; 29749693; 32729136; 33270637; 26529631; 27974186
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Adrenal insufficiency v0.27 Chirag Patel Copied gene ARNT2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.27 ARNT2 Chirag Patel gene: ARNT2 was added
gene: ARNT2 was added to Adrenal insufficiency. Sources: Expert Review Amber,Literature,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475, 11381139
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome 615926
Adrenal insufficiency v0.26 Chirag Patel Copied gene ZRSR2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.26 ZRSR2 Chirag Patel gene: ZRSR2 was added
gene: ZRSR2 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, MIM# 301132
Adrenal insufficiency v0.25 Chirag Patel Copied gene TBX19 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.25 TBX19 Chirag Patel gene: TBX19 was added
gene: TBX19 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX19 were set to 15613420, 31998673, 11290323, 15476446, 22170728
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400
Adrenal insufficiency v0.24 Chirag Patel Copied gene TBC1D32 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.24 TBC1D32 Chirag Patel gene: TBC1D32 was added
gene: TBC1D32 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 24285566; 31130284; 36826837; 40319332
Phenotypes for gene: TBC1D32 were set to Syndromic hypopituitarism
Adrenal insufficiency v0.23 Chirag Patel Copied gene SOX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.23 SOX3 Chirag Patel gene: SOX3 was added
gene: SOX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Adrenal insufficiency v0.22 Chirag Patel Copied gene ROBO1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.22 ROBO1 Chirag Patel gene: ROBO1 was added
gene: ROBO1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530
Phenotypes for gene: ROBO1 were set to Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Adrenal insufficiency v0.21 Chirag Patel Copied gene HESX1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.21 HESX1 Chirag Patel gene: HESX1 was added
gene: HESX1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Adrenal insufficiency v0.20 Chirag Patel Copied gene OTX2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.20 OTX2 Chirag Patel gene: OTX2 was added
gene: OTX2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Adrenal insufficiency v0.19 Chirag Patel Copied gene LHX4 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.19 LHX4 Chirag Patel gene: LHX4 was added
gene: LHX4 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX4.
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX4 were set to 18073311; 18445675; 11567216
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Adrenal insufficiency v0.18 Chirag Patel Copied gene LHX3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.18 LHX3 Chirag Patel gene: LHX3 was added
gene: LHX3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp
treatable tags were added to gene: LHX3.
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Adrenal insufficiency v0.17 Chirag Patel Copied gene HID1 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.17 HID1 Chirag Patel gene: HID1 was added
gene: HID1 was added to Adrenal insufficiency. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Adrenal insufficiency v0.16 Chirag Patel Copied gene GLI3 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.16 GLI3 Chirag Patel gene: GLI3 was added
gene: GLI3 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Genomics England PanelApp
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 24736735; 15739154; 9054938 10945658 11693785
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Adrenal insufficiency v0.15 Chirag Patel Copied gene GLI2 from panel Pituitary hormone deficiency
Adrenal insufficiency v0.15 GLI2 Chirag Patel gene: GLI2 was added
gene: GLI2 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI2 were set to 14581620; 17096318; 33235745; 27585885; 15994174; 20685856; 30629636; 30583238
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Pituitary hormone deficiency v0.172 FGF17 Chirag Patel Phenotypes for gene: FGF17 were changed from to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270
Adrenal insufficiency v0.14 Chirag Patel Copied gene NR0B1 from panel Mendeliome
Adrenal insufficiency v0.14 NR0B1 Chirag Patel gene: NR0B1 was added
gene: NR0B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: NR0B1.
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NR0B1 were set to 19508677; 26030781
Phenotypes for gene: NR0B1 were set to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Adrenal insufficiency v0.13 Chirag Patel Copied gene CYP11B2 from panel Mendeliome
Adrenal insufficiency v0.13 CYP11B2 Chirag Patel gene: CYP11B2 was added
gene: CYP11B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B2.
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 8439335; 9360501; 15240589; 9814506; 12788848; 8772616
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).
Adrenal insufficiency v0.12 Chirag Patel Copied gene STAR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.12 STAR Chirag Patel gene: STAR was added
gene: STAR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 7892608; 8634702
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710)
Adrenal insufficiency v0.11 Chirag Patel Copied gene POR from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.11 POR Chirag Patel gene: POR was added
gene: POR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27068427
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Adrenal insufficiency v0.10 Chirag Patel Copied gene HSD3B2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812; 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Adrenal insufficiency v0.9 Chirag Patel Copied gene CYP21A2 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.9 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Adrenal insufficiency v0.8 Chirag Patel Copied gene CYP17A1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.8 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Adrenal insufficiency v0.7 Chirag Patel Copied gene CYP11B1 from panel Congenital adrenal hyperplasia
Adrenal insufficiency v0.7 CYP11B1 Chirag Patel gene: CYP11B1 was added
gene: CYP11B1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B1.
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Adrenal insufficiency v0.6 Chirag Patel Copied gene CYP11A1 from panel Differences of Sex Development
Adrenal insufficiency v0.6 CYP11A1 Chirag Patel gene: CYP11A1 was added
gene: CYP11A1 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 12161514; 16705068; 18182448; 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Adrenal insufficiency v0.5 Chirag Patel Copied gene CDKN1C from panel Differences of Sex Development
Adrenal insufficiency v0.5 CDKN1C Chirag Patel gene: CDKN1C was added
gene: CDKN1C was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 22634751; 33076988; 31976094; 31497289
Phenotypes for gene: CDKN1C were set to IMAGe syndrome, MIM# 614732
Mode of pathogenicity for gene: CDKN1C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adrenal insufficiency v0.4 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Adrenal insufficiency v0.3 Chirag Patel HPO terms changed from to Adrenal insufficiency, HP:0000846; Congenital adrenal hypoplasia, HP:0008244
Congenital adrenal hyperplasia v0.8 Chirag Patel Panel status changed from internal to public
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel Marked gene: STAR as ready
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel Gene: star has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 POR Chirag Patel Marked gene: POR as ready
Congenital adrenal hyperplasia v0.7 POR Chirag Patel Gene: por has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Congenital adrenal hyperplasia v0.7 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 CYP21A2 Chirag Patel Marked gene: CYP21A2 as ready
Congenital adrenal hyperplasia v0.7 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 CYP11B1 Chirag Patel Marked gene: CYP11B1 as ready
Congenital adrenal hyperplasia v0.7 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.7 Chirag Patel Copied gene STAR from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.7 STAR Chirag Patel gene: STAR was added
gene: STAR was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 7892608; 8634702
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710)
Congenital adrenal hyperplasia v0.6 Chirag Patel Copied gene POR from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.6 POR Chirag Patel gene: POR was added
gene: POR was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27068427
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Congenital adrenal hyperplasia v0.5 Chirag Patel Copied gene CYP11B1 from panel Differences of Sex Development
Congenital adrenal hyperplasia v0.5 CYP11B1 Chirag Patel gene: CYP11B1 was added
gene: CYP11B1 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
treatable tags were added to gene: CYP11B1.
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel Marked gene: HSD3B2 as ready
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.4 CYP17A1 Chirag Patel Marked gene: CYP17A1 as ready
Congenital adrenal hyperplasia v0.4 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Congenital adrenal hyperplasia v0.4 Chirag Patel Copied gene HSD3B2 from panel Mendeliome
Congenital adrenal hyperplasia v0.4 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812; 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Congenital adrenal hyperplasia v0.3 Chirag Patel Copied gene CYP17A1 from panel Hypertension and Aldosterone disorders
Congenital adrenal hyperplasia v0.3 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Congenital adrenal hyperplasia v0.2 Chirag Patel Copied gene CYP21A2 from panel Hypertension and Aldosterone disorders
Congenital adrenal hyperplasia v0.2 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Congenital adrenal hyperplasia. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Congenital adrenal hyperplasia v0.1 Chirag Patel HPO terms changed from to Congenital adrenal hyperplasia, HP:0008258
Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Familial hypocalciuric hypercalcaemia v0.6 Chirag Patel Panel status changed from internal to public
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel Marked gene: GNA11 as ready
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel Gene: gna11 has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.5 AP2S1 Chirag Patel Marked gene: AP2S1 as ready
Familial hypocalciuric hypercalcaemia v0.5 AP2S1 Chirag Patel Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.5 Chirag Patel Copied gene GNA11 from panel Hypercalcaemia
Familial hypocalciuric hypercalcaemia v0.5 GNA11 Chirag Patel gene: GNA11 was added
gene: GNA11 was added to Familial hypocalciuric hypercalcaemia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 23802516; 28833550; 27913609
Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcaemia, type II, MIM# 145981; MONDO:0007792
Familial hypocalciuric hypercalcaemia v0.4 Chirag Patel Copied gene AP2S1 from panel Hypercalcaemia
Familial hypocalciuric hypercalcaemia v0.4 AP2S1 Chirag Patel gene: AP2S1 was added
gene: AP2S1 was added to Familial hypocalciuric hypercalcaemia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 23222959; 33729479; 33168530; 3204769; 31723423; 29479578
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Hyperparathyroidism v0.10 Chirag Patel Panel status changed from internal to public
Hyperparathyroidism v0.9 RET Chirag Patel Marked gene: RET as ready
Hyperparathyroidism v0.9 RET Chirag Patel Gene: ret has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 MEN1 Chirag Patel Marked gene: MEN1 as ready
Hyperparathyroidism v0.9 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 GCM2 Chirag Patel Marked gene: GCM2 as ready
Hyperparathyroidism v0.9 GCM2 Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 CDKN1B Chirag Patel Marked gene: CDKN1B as ready
Hyperparathyroidism v0.9 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 CDC73 Chirag Patel Marked gene: CDC73 as ready
Hyperparathyroidism v0.9 CDC73 Chirag Patel Gene: cdc73 has been classified as Green List (High Evidence).
Hyperparathyroidism v0.9 Chirag Patel Copied gene GCM2 from panel Hypercalcaemia
Hyperparathyroidism v0.9 GCM2 Chirag Patel gene: GCM2 was added
gene: GCM2 was added to Hyperparathyroidism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCM2 were set to 27745835
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343
Penetrance for gene: GCM2 were set to unknown
Mode of pathogenicity for gene: GCM2 was set to Other
Hyperparathyroidism v0.8 Chirag Patel Copied gene RET from panel Calcium and Phosphate disorders
Hyperparathyroidism v0.8 RET Chirag Patel gene: RET was added
gene: RET was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert Review Green,Expert Review
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Hyperparathyroidism v0.7 Chirag Patel Copied gene MEN1 from panel Calcium and Phosphate disorders
Hyperparathyroidism v0.7 MEN1 Chirag Patel gene: MEN1 was added
gene: MEN1 was added to Hyperparathyroidism. Sources: Expert Review Green,Expert list,Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to PMID: 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Hyperparathyroidism v0.6 Chirag Patel Copied gene CDKN1B from panel Mendeliome
Hyperparathyroidism v0.6 CDKN1B Chirag Patel gene: CDKN1B was added
gene: CDKN1B was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 24819502; 17030811; 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Hyperparathyroidism v0.5 Chirag Patel Copied gene CDC73 from panel Hypercalcaemia
Hyperparathyroidism v0.5 CDC73 Chirag Patel gene: CDC73 was added
gene: CDC73 was added to Hyperparathyroidism. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to 12434154
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Familial hypocalciuric hypercalcaemia v0.3 Chirag Patel HPO terms changed from to Hypocalciuria, HP:0003127; Hypercalcemia, HP:0003072
Hyperparathyroidism v0.4 CASR Chirag Patel Classified gene: CASR as Green List (high evidence)
Hyperparathyroidism v0.4 CASR Chirag Patel Gene: casr has been classified as Green List (High Evidence).
Familial hypocalciuric hypercalcaemia v0.2 CASR Chirag Patel Classified gene: CASR as Green List (high evidence)
Familial hypocalciuric hypercalcaemia v0.2 CASR Chirag Patel Gene: casr has been classified as Green List (High Evidence).
Hyperparathyroidism v0.3 CASR Chirag Patel Marked gene: CASR as ready
Hyperparathyroidism v0.3 CASR Chirag Patel Gene: casr has been classified as Red List (Low Evidence).
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel Marked gene: CASR as ready
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel Gene: casr has been classified as Red List (Low Evidence).
Familial hypocalciuric hypercalcaemia v0.1 CASR Chirag Patel gene: CASR was added
gene: CASR was added to Familial hypocalciuric hypercalcaemia. Sources: Genomics England PanelApp
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 7916660,19423559,9011580,7717399,17698911,7726161
Phenotypes for gene: CASR were set to Familial hypocalciuric hypercalcemia 1, MONDO:0007791
Review for gene: CASR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Genomics England PanelApp
Hyperparathyroidism v0.3 CASR Chirag Patel gene: CASR was added
gene: CASR was added to Hyperparathyroidism. Sources: Genomics England PanelApp
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 8675635,15292296,9253359,8675635,25162666,28740527
Phenotypes for gene: CASR were set to Neonatal severe primary hyperparathyroidism, MONDO:0009397
Review for gene: CASR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Genomics England PanelApp
Hyperparathyroidism v0.2 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hyperparathyroidism v0.1 Chirag Patel HPO terms changed from to Hyperparathyroidism, HP:0000843
Familial hypoparathyroidism v1.13 Chirag Patel List of related panels changed from Hypoparathyroidism; HP:0000829 to
Mendeliome v1.4210 MFN2 Sangavi Sivagnanasundram reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary motor and sensory neuropathy MONDO:0015358, multiple symmetric lipomatosis with partial lipodystrophy MONDO:1060153; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4210 PAX3 Sangavi Sivagnanasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7726174; Phenotypes: Waardenburg syndrome MONDO:0018094; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4210 PDHB Sangavi Sivagnanasundram Publications for gene: PDHB were set to
Mendeliome v1.4209 MASP2 Sangavi Sivagnanasundram Publications for gene: MASP2 were set to
Mendeliome v1.4208 PAICS Sangavi Sivagnanasundram reviewed gene: PAICS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PAICS deficiency MONDO:0859003; Mode of inheritance: None
Mendeliome v1.4208 OXA1L Sangavi Sivagnanasundram reviewed gene: OXA1L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732; Mode of inheritance: None
Mendeliome v1.4208 GDF5 Lucy Spencer Phenotypes for gene: GDF5 were changed from Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298) to Brachydactyly MONDO:0021004, GDF5-related; Acromelic dysplasia MONDO:0019695, GDF5-related; Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)
Mendeliome v1.4207 GDF5 Lucy Spencer reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly MONDO:0021004, GDF5-related, Acromelic dysplasia MONDO:0019695, GDF5-related; Mode of inheritance: None
Mendeliome v1.4207 GNAS Lucy Spencer Phenotypes for gene: GNAS were changed from Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463) to Disorder of GNAS inactivation MONDO:0800466; Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)
Mendeliome v1.4206 GNAS Lucy Spencer reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Disorder of GNAS inactivation MONDO:0800466; Mode of inheritance: None
Mendeliome v1.4206 KRT14 Lucy Spencer Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000 to Epidermolysis bullosa MONDO:0006541, KRT14-related; Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Mendeliome v1.4205 KRT14 Lucy Spencer reviewed gene: KRT14: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT14-related; Mode of inheritance: None
Mendeliome v1.4205 MYT1 Sangavi Sivagnanasundram reviewed gene: MYT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYT1-related oculoauriculovertebral spectrum MONDO:0007712; Mode of inheritance: None
Mendeliome v1.4205 KRT10 Lucy Spencer Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602 to Ichthyosis MONDO:0019269, KRT10-related; Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602
Mendeliome v1.4204 KRT10 Lucy Spencer reviewed gene: KRT10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT10-related; Mode of inheritance: None
Mendeliome v1.4204 KRT1 Lucy Spencer Phenotypes for gene: KRT1 were changed from 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 to Ichthyosis MONDO:0019269, KRT1-related; Palmoplantar keratosis MONDO:0006590, KRT1-related; 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 v1.4203 KRT1 Lucy Spencer reviewed gene: KRT1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis MONDO:0019269, KRT1-related, Palmoplantar keratosis MONDO:0006590, KRT1-related; Mode of inheritance: None
Mendeliome v1.4203 KRT5 Lucy Spencer Phenotypes for gene: KRT5 were changed from Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 to Epidermolysis bullosa MONDO:0006541, KRT5-related; Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Mendeliome v1.4202 KRT5 Lucy Spencer reviewed gene: KRT5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa MONDO:0006541, KRT5-related; Mode of inheritance: None
Mendeliome v1.4202 MYADML2 Sangavi Sivagnanasundram reviewed gene: MYADML2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: MYADML2-related connective tissue disroder MONDO:0003900; Mode of inheritance: None
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Callosome v0.588 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Callosome v0.588 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark Marked gene: TMPRSS7 as ready
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark Gene: tmprss7 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.134 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Hydrocephalus_Ventriculomegaly v0.134 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Fetal anomalies v1.522 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Fetal anomalies v1.522 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Callosome v0.588 Zornitza Stark Copied gene TMPRSS7 from panel Intellectual disability syndromic and non-syndromic
Callosome v0.588 TMPRSS7 Zornitza Stark gene: TMPRSS7 was added
gene: TMPRSS7 was added to Callosome. Sources: Literature
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS7 were set to 40796295
Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related
Intellectual disability syndromic and non-syndromic v1.638 TMPRSS7 Zornitza Stark changed review comment from: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus.
Sources: Literature; to: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder, presenting with fetal agenesis of the corpus callosum and ventriculomegaly. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus.
Sources: Literature
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark Marked gene: SKAP2 as ready
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark Gene: skap2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v2.45 Zornitza Stark Copied gene SKAP2 from panel Mendeliome
Autoinflammatory Disorders v2.45 SKAP2 Zornitza Stark gene: SKAP2 was added
gene: SKAP2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SKAP2 were set to 40771593; 34172489
Phenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778
Mendeliome v1.4202 SKAP2 Zornitza Stark Marked gene: SKAP2 as ready
Mendeliome v1.4202 SKAP2 Zornitza Stark Gene: skap2 has been classified as Red List (Low Evidence).
Mendeliome v1.4202 SKAP2 Zornitza Stark gene: SKAP2 was added
gene: SKAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SKAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SKAP2 were set to 40771593; 34172489
Phenotypes for gene: SKAP2 were set to Inborn error of immunity, MONDO:0003778
Review for gene: SKAP2 was set to RED
Added comment: PMID 34172489 reports a de novo heterozygous SKAP2 missense variant (c.457G>A, p.Gly153Arg) in a child with childhood‑onset type 1 diabetes and multiple autoimmune disorders; functional studies in THP‑1 macrophages, patient‑derived macrophages and neutrophils show constitutive SKAP2 activation and hyper‑integrin signaling. The same variant was later described in PMID 40771593.
Sources: Literature
Microcephaly v1.405 Rylee Peters Copied gene NRDC from panel Mendeliome
Microcephaly v1.405 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Intellectual disability syndromic and non-syndromic v1.638 Rylee Peters Copied gene NRDC from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.638 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Mendeliome v1.4201 NRDC Rylee Peters Classified gene: NRDC as Amber List (moderate evidence)
Mendeliome v1.4201 NRDC Rylee Peters Gene: nrdc has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4200 NRDC Rylee Peters gene: NRDC was added
gene: NRDC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Review for gene: NRDC was set to AMBER
Added comment: Two unrelated families reported with the same homozygous NMD-predicted frameshift variant. PMID: 41449824 describes two affected siblings with severe neurodevelopmental disorder (developmental delay, microcephaly, hypotonia, seizures, absent speech). PMID: 28017472 reports one individual with severe global developmental delay, ataxia, progressive neurodegeneration, and acquired microcephaly.

PMID: 34582790 describes an additional homozygous splice variant (NRDC c.3081-2A>G) in an infant with developmental delay, ventricular dilatation and large nevi; however, the individual was also homozygous for a pathogenic NANS missense variant (c.635T>C; p.I212T), which has an established gene–disease association.

PMID: 19935654 | Nrd1−/− mice show reduced brain size, thin cerebral cortex, central and peripheral hypomyelination, with motor impairment and cognitive deficits.
Sources: Literature
Incidentalome v0.402 VCP Zornitza Stark Marked gene: VCP as ready
Incidentalome v0.402 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Incidentalome v0.402 VCP Zornitza Stark Phenotypes for gene: VCP were changed from to Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501; MIM 613954); Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320)
Incidentalome v0.401 VCP Zornitza Stark Publications for gene: VCP were set to 21145000; 33004675
Incidentalome v0.400 VCP Zornitza Stark Publications for gene: VCP were set to
Incidentalome v0.399 VCP Zornitza Stark Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.398 PRNP Zornitza Stark Marked gene: PRNP as ready
Incidentalome v0.398 PRNP Zornitza Stark Gene: prnp has been classified as Green List (High Evidence).
Incidentalome v0.398 PRNP Zornitza Stark Phenotypes for gene: PRNP were changed from to Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)
Incidentalome v0.397 PRNP Zornitza Stark Publications for gene: PRNP were set to
Incidentalome v0.396 PRNP Zornitza Stark Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4199 NNT Zornitza Stark Publications for gene: NNT were set to 22634753; 23474776; 25879317; 26070314; 27129361
Mendeliome v1.4198 NNT Zornitza Stark reviewed gene: NNT: Rating: RED; Mode of pathogenicity: None; Publications: 40709434; Phenotypes: Familial sebaceous hyperplasia, MONDO:0011130, NNT-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.337 NAA15 Zornitza Stark Publications for gene: NAA15 were set to 38380600
Dystonia and Chorea v0.336 NAA15 Zornitza Stark edited their review of gene: NAA15: Added comment: Multiple reports of dystonia as part of the clinical presentation.; Changed publications: 38380600, 36221186, 35730864
Dystonia and Chorea v0.336 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from dystonia; neurodevelopmental delay to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
Dystonia and Chorea v0.335 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.521 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Fetal anomalies v1.520 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924
Fetal anomalies v1.520 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Clefting disorders v0.310 ARCN1 Zornitza Stark commented on gene: ARCN1: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Skeletal dysplasia v0.402 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Skeletal dysplasia v0.401 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed publications: 27476655, 33154040, 35300924
Skeletal dysplasia v0.401 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Intellectual disability syndromic and non-syndromic v1.637 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.61 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Mendeliome v1.4198 ARCN1 Zornitza Stark changed review comment from: At least 8 unrelated families reported with heterozygous variants.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Microcephaly v1.404 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.403 ARCN1 Zornitza Stark changed review comment from: At least 14 individuals with the dominant disorder reported.; to: At least 14 individuals reported, summarised in PMID 35300924. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%).
Microcephaly v1.403 ARCN1 Zornitza Stark changed review comment from: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; to: At least 14 individuals with the dominant disorder reported.
Microcephaly v1.403 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4198 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4197 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported with heterozygous variants.; to: At least 8 unrelated families reported with heterozygous variants.
Mendeliome v1.4197 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4197 ARCN1 Zornitza Stark Deleted their comment
Pierre Robin Sequence v0.60 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pierre Robin Sequence v0.59 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.636 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Intellectual disability syndromic and non-syndromic v1.635 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.634 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Microcephaly v1.403 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655
Microcephaly v1.402 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Microcephaly v1.401 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.

At least 8 individuals with the dominant disorder reported.; Changed rating: GREEN; Changed publications: 35300924, 27476655, 31075182, 33154040, 35300924, 38044464, 39731039, 40620618; Changed phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4197 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655; 33154040
Mendeliome v1.4196 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4195 ARCN1 Zornitza Stark changed review comment from: 4 unrelated families reported.; to: 4 unrelated families reported with heterozygous variants.
Mendeliome v1.4195 ARCN1 Zornitza Stark edited their review of gene: ARCN1: Added comment: PMID 35300924 reports 14 individuals (9 post‑natal, 5 fetuses) from 3 unrelated families with biallelic loss‑of‑function ARCN1 variants. Core phenotype includes intrauterine growth restriction, micrognathia, short stature, rhizomelic shortening, microcephaly, variable developmental delay/intellectual disability, genitourinary anomalies in males, cataracts, transient liver dysfunction/glycosylation abnormalities, and rare complications such as hepatoblastoma. Functional assays show defective type I collagen transport and abnormal N‑glycan profiles.; Changed publications: 27476655, 33154040, 35300924; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinitis pigmentosa v0.238 VWA8 Zornitza Stark Marked gene: VWA8 as ready
Retinitis pigmentosa v0.238 VWA8 Zornitza Stark Gene: vwa8 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Marked gene: TXNRD2 as ready
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Green List (High Evidence).
Adrenal insufficiency v0.2 TXNRD2 Zornitza Stark Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Adrenal insufficiency v0.1 Zornitza Stark Copied gene TXNRD2 from panel Mendeliome
Adrenal insufficiency v0.1 TXNRD2 Zornitza Stark gene: TXNRD2 was added
gene: TXNRD2 was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNRD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNRD2 were set to 24601690; 21247928; 34258490
Phenotypes for gene: TXNRD2 were set to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502
Rasopathy v0.113 YWHAZ Zornitza Stark Marked gene: YWHAZ as ready
Rasopathy v0.113 YWHAZ Zornitza Stark Gene: ywhaz has been classified as Amber List (Moderate Evidence).
Rasopathy v0.113 Zornitza Stark Copied gene YWHAZ from panel Intellectual disability syndromic and non-syndromic
Rasopathy v0.113 YWHAZ Zornitza Stark gene: YWHAZ was added
gene: YWHAZ was added to Rasopathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352; 40692796
Phenotypes for gene: YWHAZ were set to Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related
Intellectual disability syndromic and non-syndromic v1.634 YWHAZ Zornitza Stark Publications for gene: YWHAZ were set to 36001342
Mendeliome v1.4195 YWHAZ Zornitza Stark Publications for gene: YWHAZ were set to 36001342; 31024343; 35143101; 35501409; 22124272; 26207352
Mendeliome v1.4194 YWHAZ Zornitza Stark edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 36001342, 31024343, 35143101, 35501409, 22124272, 26207352, 40692796
Intellectual disability syndromic and non-syndromic v1.633 YWHAZ Zornitza Stark edited their review of gene: YWHAZ: Added comment: Further invidividual reported as part of a large CFC cohort PMID 40692796, missense variant, limited further information.; Changed publications: 31024343, 35143101, 35501409, 22124272, 26207352, 40692796
Early-onset Dementia v1.54 PRKCH Zornitza Stark Marked gene: PRKCH as ready
Early-onset Dementia v1.54 PRKCH Zornitza Stark Gene: prkch has been classified as Red List (Low Evidence).
Early-onset Dementia v1.54 PRKCH Zornitza Stark gene: PRKCH was added
gene: PRKCH was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: PRKCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKCH were set to 40591711
Phenotypes for gene: PRKCH were set to Alzheimer disease, MONDO:0004975, PRKCH-related
Review for gene: PRKCH was set to RED
Added comment: PMID 40591711 reports eight individuals from one family with a homozygous missense K65R variant
Sources: Literature
Mendeliome v1.4194 PRKCH Zornitza Stark Phenotypes for gene: PRKCH were changed from to Alzheimer disease, MONDO:0004975, PRKCH-related
Mendeliome v1.4193 PRKCH Zornitza Stark Publications for gene: PRKCH were set to
Mendeliome v1.4192 PRKCH Zornitza Stark Mode of inheritance for gene: PRKCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4191 PRKCH Zornitza Stark reviewed gene: PRKCH: Rating: RED; Mode of pathogenicity: None; Publications: 40591711; Phenotypes: Alzheimer disease, MONDO:0004975, PRKCH-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark Marked gene: NXF3 as ready
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark Gene: nxf3 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.78 Zornitza Stark Copied gene NXF3 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.78 NXF3 Zornitza Stark gene: NXF3 was added
gene: NXF3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NXF3 were set to 40624043
Phenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related
Mendeliome v1.4191 NXF3 Zornitza Stark edited their review of gene: NXF3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4191 NXF3 Zornitza Stark Marked gene: NXF3 as ready
Mendeliome v1.4191 NXF3 Zornitza Stark Gene: nxf3 has been classified as Red List (Low Evidence).
Mendeliome v1.4191 NXF3 Zornitza Stark Mode of inheritance for gene: NXF3 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4190 NXF3 Zornitza Stark gene: NXF3 was added
gene: NXF3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NXF3 were set to 40624043
Phenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related
Review for gene: NXF3 was set to RED
Added comment: PMID 40624043 reports a single individual with a hemizygous stop‑gain NXF3 variant inherited from a heterozygous carrier mother, presenting with severe oligoasthenoteratozoospermia. Functional studies show a truncated protein lacking the NTF2‑like domain, loss of binding to NXT2, and absence of NXF3 staining in sperm, supporting a loss‑of‑function mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark Marked gene: MED14 as ready
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark Gene: med14 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.633 Zornitza Stark Copied gene MED14 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.633 MED14 Zornitza Stark gene: MED14 was added
gene: MED14 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MED14 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED14 were set to PMID: 40597352
Phenotypes for gene: MED14 were set to Neurodevelopmental disorder (MONDO:0700092), MED14-related
Mendeliome v1.4189 TTC37 Zornitza Stark changed review comment from: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.; to: Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.

New HGNC approved name is SKIC3.
Mendeliome v1.4189 TTC37 Zornitza Stark Tag new gene name tag was added to gene: TTC37.
Mendeliome v1.4189 LRRC6 Zornitza Stark changed review comment from: More than 10 unrelated families reported.

Newe HGNC approved name is DNAAF11.; to: More than 10 unrelated families reported.

New HGNC approved name is DNAAF11.
Mendeliome v1.4189 LRRC6 Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported.

Newe HGNC approved name is DNAAF11.
Mendeliome v1.4189 LRRC6 Zornitza Stark Tag new gene name tag was added to gene: LRRC6.
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark Marked gene: SUN5 as ready
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.77 Zornitza Stark Copied gene SUN5 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.77 SUN5 Zornitza Stark gene: SUN5 was added
gene: SUN5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUN5 were set to 34159570; 33671757; 27640305
Phenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related
Mendeliome v1.4189 SUN5 Zornitza Stark Marked gene: SUN5 as ready
Mendeliome v1.4189 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Mendeliome v1.4189 SUN5 Zornitza Stark Classified gene: SUN5 as Green List (high evidence)
Mendeliome v1.4189 SUN5 Zornitza Stark Gene: sun5 has been classified as Green List (High Evidence).
Mendeliome v1.4188 SUN5 Zornitza Stark gene: SUN5 was added
gene: SUN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUN5 were set to 34159570; 33671757; 27640305
Phenotypes for gene: SUN5 were set to Spermatogenic failure, MONDO:0004983, SUN5-related
Review for gene: SUN5 was set to GREEN
Added comment: SUN5 encodes a testis‑specific SUN‑domain protein that anchors the sperm head to the tail. Multiple independent studies have identified biallelic loss‑of‑function SUN5 variants in >30 individuals with acephalic spermatozoa syndrome. Functional studies—including Western blot, immunofluorescence, Sun5 knockout mouse models, HeLa splicing assays, Y2H/GST pull‑down and proteasome‑inhibition rescue—demonstrate loss of SUN5 protein and disrupted head‑tail coupling, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark Marked gene: SPNS1 as ready
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.632 Zornitza Stark Copied gene SPNS1 from panel Lysosomal Storage Disorder
Intellectual disability syndromic and non-syndromic v1.632 SPNS1 Zornitza Stark gene: SPNS1 was added
gene: SPNS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS1 were set to 40608416; 38451736
Phenotypes for gene: SPNS1 were set to Lysosomal disorder, SPNS1-related, MONDO:0002561
Lysosomal Storage Disorder v1.27 SPNS1 Zornitza Stark Publications for gene: SPNS1 were set to 40608416
Lysosomal Storage Disorder v1.26 SPNS1 Zornitza Stark Classified gene: SPNS1 as Green List (high evidence)
Lysosomal Storage Disorder v1.26 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.25 SPNS1 Zornitza Stark reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4187 SPNS1 Zornitza Stark Publications for gene: SPNS1 were set to 40608416
Mendeliome v1.4186 SPNS1 Zornitza Stark Classified gene: SPNS1 as Green List (high evidence)
Mendeliome v1.4186 SPNS1 Zornitza Stark Gene: spns1 has been classified as Green List (High Evidence).
Mendeliome v1.4185 SPNS1 Zornitza Stark reviewed gene: SPNS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38451736; Phenotypes: Lysosomal disorder, SPNS1-related, MONDO:0002561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Marked gene: MTSS1L as ready
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.24 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Congenital nystagmus v1.23 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.401 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Intellectual disability syndromic and non-syndromic v1.631 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Intellectual disability syndromic and non-syndromic v1.630 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Intellectual disability syndromic and non-syndromic v1.630 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.401 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766; 39890443; 40698928
Microcephaly v1.401 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Microcephaly v1.400 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4185 MTSS1L Zornitza Stark Tag new gene name tag was added to gene: MTSS1L.
Mendeliome v1.4185 MTSS1L Zornitza Stark Publications for gene: MTSS1L were set to PMID: 36067766
Mendeliome v1.4184 MTSS1L Zornitza Stark reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 39890443, 40698928; Phenotypes: Intellectual developmental disorder with ocular anomalies and distinctive facial features, MIM# 620086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4184 CSMD3 Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.361 CSMD3 Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.4184 KRT8 Bryony Thompson Mode of inheritance for gene: KRT8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.630 SF3B1 Zornitza Stark Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related
Intellectual disability syndromic and non-syndromic v1.629 SF3B1 Zornitza Stark Publications for gene: SF3B1 were set to
Intellectual disability syndromic and non-syndromic v1.628 SF3B1 Zornitza Stark reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4183 SF3B1 Zornitza Stark Phenotypes for gene: SF3B1 were changed from complex neurodevelopmental disorder MONDO:0100038 to complex neurodevelopmental disorder MONDO:0100038, SF3B1-related
Mendeliome v1.4182 SF3B1 Zornitza Stark Publications for gene: SF3B1 were set to
Mendeliome v1.4181 SF3B1 Zornitza Stark reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41577671; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, SF3B1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 ZP3 Zornitza Stark Classified gene: ZP3 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 ZP3 Zornitza Stark changed review comment from: Presentations with POF reported, PMID 39485610.; to: Presentations with POF reported, PMID 39485610, upgrade to Green.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 ZP3 Zornitza Stark edited their review of gene: ZP3: Added comment: Presentations with POF reported, PMID 39485610.; Changed rating: GREEN; Changed publications: 28886344, 30810869, 39485610
Mendeliome v1.4181 TUBB1 Zornitza Stark changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present. Also note relatively high gnomAD counts for the reported variants, hence AMBER for association with hypothyroidism.
Mendeliome v1.4181 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Changed rating: AMBER
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Classified gene: TUBB1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.82 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for mono-allelic. RED for bi-allelic.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts including for the previously reported R318W variant. AMBER for this association.
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Deleted their comment
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Changed rating: AMBER
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark changed review comment from: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; to: Further 4 individuals reported with heterozygous missense variants and hypothyroidism. However, note very high gnomAD counts. AMBER for this association.
Mendeliome v1.4181 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141 to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141; Hypothyroidism
Mendeliome v1.4180 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486
Mendeliome v1.4179 TUBB1 Zornitza Stark changed review comment from: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; to: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic. Unclear if this is a separate association at present.
Mendeliome v1.4179 TUBB1 Zornitza Stark Deleted their comment
Mendeliome v1.4179 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Added comment: PMIDs 30446499, 31642429 and 40071799 -- more than 5 individuals reported with congenital hypothyroidism and mono-allelic variants in TUBB1. One individual with bi-allelic.; Changed publications: 30446499, 31642429, 40071799; Changed phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141, Hypothyroidism
Congenital hypothyroidism v0.81 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 30446499; 31642429
Congenital hypothyroidism v0.80 TUBB1 Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.79 TUBB1 Zornitza Stark edited their review of gene: TUBB1: Added comment: Further 4 individuals reported with heterozygous missense variants and hypothyroidism.; Changed rating: GREEN; Changed publications: 40071799; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v1.36 STAR Zornitza Stark changed review comment from: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; to: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype. All had variants at same position, c.65-2A. LIMITED evidence for this MOI.
Mendeliome v1.4179 SAG Zornitza Stark changed review comment from: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; to: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.

Associations with RP are AMBER due to the recurrent nature of the variants.
Mendeliome v1.4179 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758 to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228
Mendeliome v1.4178 SAG Zornitza Stark Publications for gene: SAG were set to 7670478; 9565049; 15234147; 28549094; 33047631
Mendeliome v1.4177 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4176 SAG Zornitza Stark edited their review of gene: SAG: Added comment: Association with AD RP: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.

Association with AR RP: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 7670478, 9565049, 15234147, 28549094, 33047631, 9565049, 31257036; Changed phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.238 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Retinitis pigmentosa 47, MIM# 613758 to Retinitis pigmentosa 47, autosomal recessive MIM# 613758; Retinitis pigmentosa 96, autosomal dominant, MIM# 620228
Retinitis pigmentosa v0.237 SAG Zornitza Stark Publications for gene: SAG were set to 28549094; 33047631
Retinitis pigmentosa v0.236 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.235 SAG Zornitza Stark changed review comment from: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.; to: PMID: 28549094 12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of dominant founder mutation PMID: 33047631 1x Australian family *all sharing the same variant Cys147Phe.
Retinitis pigmentosa v0.235 SAG Zornitza Stark edited their review of gene: SAG: Added comment: Recurrent homozygous 1-bp deletion, 1147delA, identified in multiple Japanese families -- in some, affected individuals had Oguchi disease, suggesting the two conditions are part of a spectrum.; Changed publications: 28549094, 33047631, 9565049, 31257036]; Changed phenotypes: Retinitis pigmentosa 47, autosomal recessive MIM# 613758, Retinitis pigmentosa 96, autosomal dominant, MIM# 620228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.235 SAG Zornitza Stark edited their review of gene: SAG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4176 RNF213 Zornitza Stark changed review comment from: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).; to: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).

RED for this MOI/association.
Mendeliome v1.4176 RNF213 Zornitza Stark reviewed gene: RNF213: Rating: RED; Mode of pathogenicity: None; Publications: 28962888; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Marked gene: RNF213 as ready
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Gene: rnf213 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.52 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from to Moyamoya disease, MONDO:0016820
Pulmonary Arterial Hypertension v1.51 RNF213 Zornitza Stark edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820
Pulmonary Arterial Hypertension v1.51 RNF213 Zornitza Stark gene: RNF213 was added
gene: RNF213 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: RNF213 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF213 were set to 28962888
Review for gene: RNF213 was set to RED
Added comment: Five unrelated adults (four males, one female; median diagnosis age 26 y) reported with peripheral pulmonary artery stenosis (PPAS) presenting with pulmonary hypertension, a characteristic string‑of‑beads pattern on angiography and multiple extracranial vascular lesions. All five were homozygous for the missense RNF213 p.Arg4810Lys (c.14429G>A) variant; three also had Moyamoya disease (MMD).
Sources: Literature
Incidentalome v0.395 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Incidentalome v0.395 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Incidentalome v0.395 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3 (MONDO:0011913; MIM#607822)
Incidentalome v0.394 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to 20301340; 7596406; 16033913
Incidentalome v0.393 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to
Incidentalome v0.392 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.391 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.317 OTOG Zornitza Stark Publications for gene: OTOG were set to 29800624; 23122587
Deafness_IsolatedAndComplex v1.316 OTOG Zornitza Stark reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4176 OTOG Zornitza Stark Publications for gene: OTOG were set to 29800624; 23122587
Mendeliome v1.4175 OTOG Zornitza Stark reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139988, 31645975, 32048449, 32244554, 32860223, 34118384, 35248088, 38894825, 39858607, 40389292, 40565546, 33136635, 38519595, 40565546; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4175 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, MIM# 251850; Cholestasis to Microvillus inclusion disease, MIM# 251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Mendeliome v1.4174 MYO5B Zornitza Stark Publications for gene: MYO5B were set to 30564347; 29266534; 28027573; 27532546
Mendeliome v1.4173 MYO5B Zornitza Stark edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 30564347, 29266534, 28027573, 27532546, 33525641; Changed phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Cholestasis v1.8 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Cholestasis; Microvillus inclusion disease, MIM#251850 to Microvillus inclusion disease, MIM#251850; Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Cholestasis v1.7 MYO5B Zornitza Stark Publications for gene: MYO5B were set to 28027573; 27532546
Cholestasis v1.6 MYO5B Zornitza Stark edited their review of gene: MYO5B: Added comment: PMID 33525641 summarises data on 114 individuals with bi-allelic variants in MYO5B: (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED).; Changed publications: 28027573, 27532546, 33525641
Cholestasis v1.6 MYO5B Zornitza Stark edited their review of gene: MYO5B: Changed phenotypes: Microvillus inclusion disease, MIM#251850, Cholestasis, progressive familial intrahepatic, 10, MIM# 619868
Incidentalome v0.390 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Incidentalome v0.390 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Incidentalome v0.390 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Schwannomatosis-2, susceptibility to MIM#615670; Noonan syndrome 10 MIM# 616564; Noonan syndrome 2, MIM# 605275
Incidentalome v0.389 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.388 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.387 LZTR1 Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannomatosis-2, susceptibility to MIM#615670, Noonan syndrome 10 MIM# 616564, Noonan syndrome 2, MIM# 605275; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4173 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4172 HSPB1 Zornitza Stark changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple AD families reported, functional data. Different patterns of neuropathy described.
Mendeliome v1.4172 HSPB1 Zornitza Stark edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4172 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Vascular malformation, MONDO:0024291, GPAA1-relatedVascular malformation, MONDO:0024291, GPAA1-related
Vascular Malformations_Germline v1.13 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from Vascular anomalies to Vascular malformation, MONDO:0024291, GPAA1-related
Vascular Malformations_Germline v1.12 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformation, MONDO:0024291, GPAA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4171 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to 29100095
Mendeliome v1.4170 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4169 GPAA1 Zornitza Stark changed review comment from: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; to: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.

AMBER for this MOI.
Mendeliome v1.4169 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Changed phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810, Vascular malformation, MONDO:0024291, GPAA1-related
Mendeliome v1.4169 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Added comment: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; Changed publications: 29100095, 32533362; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4169 FLI1 Zornitza Stark Publications for gene: FLI1 were set to 10891501; 10981960; 24100448; 28255014; 26316623
Mendeliome v1.4168 FLI1 Zornitza Stark Mode of inheritance for gene: FLI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4167 FLI1 Zornitza Stark reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24100448, 28255014, 26316623, 26494917; Phenotypes: Bleeding disorder, platelet-type, 21, MIM# 617443; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Marked gene: F12 as ready
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Gene: f12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.72 F12 Zornitza Stark Phenotypes for gene: F12 were changed from Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000
Bleeding and Platelet Disorders v1.71 F12 Zornitza Stark Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Bleeding and Platelet Disorders v1.70 F12 Zornitza Stark Mode of inheritance for gene: F12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.69 Zornitza Stark Copied gene F12 from panel Mendeliome
Bleeding and Platelet Disorders v1.69 F12 Zornitza Stark gene: F12 was added
gene: F12 was added to Bleeding and Platelet Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Phenotypes for gene: F12 were set to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526
Mode of pathogenicity for gene: F12 was set to Other
Mendeliome v1.4167 F12 Zornitza Stark Phenotypes for gene: F12 were changed from Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526
Mendeliome v1.4166 F12 Zornitza Stark Publications for gene: F12 were set to 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767
Mendeliome v1.4165 F12 Zornitza Stark Mode of inheritance for gene: F12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4164 F12 Zornitza Stark reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528215, 10361128; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Fetal anomalies v1.520 VPS51 Zornitza Stark Publications for gene: VPS51 were set to PMID: 30624672; 31207318
Genetic Epilepsy v1.361 Zornitza Stark Copied gene VPS51 from panel Mendeliome
Genetic Epilepsy v1.361 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 40565173; 30624672; 31207318; 40176246
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Fetal anomalies v1.519 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Fetal anomalies v1.519 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Fetal anomalies v1.518 VPS51 Zornitza Stark reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: None; Publications: 40176246, 40565173; Phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.628 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Intellectual disability syndromic and non-syndromic v1.627 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.627 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.626 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246, 40565173; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Microcephaly v1.400 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Microcephaly v1.399 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Microcephaly v1.399 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Microcephaly v1.398 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Cerebellar and Pontocerebellar Hypoplasia v1.98 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Cerebellar and Pontocerebellar Hypoplasia v1.97 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.97 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.96 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Mendeliome v1.4164 VPS51 Zornitza Stark Publications for gene: VPS51 were set to 30624672; 31207318
Mendeliome v1.4163 VPS51 Zornitza Stark edited their review of gene: VPS51: Changed publications: 40565173, 30624672, 31207318, 40176246
Mendeliome v1.4163 VPS51 Zornitza Stark edited their review of gene: VPS51: Changed publications: 40565173
Mendeliome v1.4163 VPS51 Zornitza Stark Classified gene: VPS51 as Green List (high evidence)
Mendeliome v1.4163 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Mendeliome v1.4162 VPS51 Zornitza Stark edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.

PMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606
Hereditary Spastic Paraplegia v1.139 SPTSSA Zornitza Stark Publications for gene: SPTSSA were set to 36718090
Hereditary Spastic Paraplegia v1.138 SPTSSA Zornitza Stark edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.; Changed publications: 40533086
Mendeliome v1.4162 SPTSSA Zornitza Stark Publications for gene: SPTSSA were set to 36718090
Mendeliome v1.4161 SPTSSA Zornitza Stark changed review comment from: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; to: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.
Mendeliome v1.4161 SPTSSA Zornitza Stark edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; Changed publications: 40533086
Fetal anomalies v1.518 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Fetal anomalies v1.517 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Fetal anomalies v1.517 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Fetal anomalies v1.516 MYL1 Zornitza Stark edited their review of gene: MYL1: Added comment: PMID 40488356 reports 4 individuals from 4 unrelated families with biallelic loss‑of‑function MYL1 variants (nonsense, frameshift, splice‑site, missense) presenting with severe congenital myopathy: antenatal/polyhydramnios, early hypotonia, respiratory insufficiency requiring ventilation, feeding difficulties, skeletal fractures, and a distinctive floret‑like pattern of small fast‑twitch fibres on muscle biopsy.; Changed rating: GREEN; Changed publications: 30215711, 40488356
Muscular dystrophy and myopathy_Paediatric v1.120 MYL1 Zornitza Stark Phenotypes for gene: MYL1 were changed from Congenital Myopathy 14 (MIM#618414) to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Muscular dystrophy and myopathy_Paediatric v1.119 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Muscular dystrophy and myopathy_Paediatric v1.118 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.118 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.117 MYL1 Zornitza Stark reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4161 MYL1 Zornitza Stark Publications for gene: MYL1 were set to 30215711
Mendeliome v1.4160 MYL1 Zornitza Stark Classified gene: MYL1 as Green List (high evidence)
Mendeliome v1.4160 MYL1 Zornitza Stark Gene: myl1 has been classified as Green List (High Evidence).
Mendeliome v1.4159 MYL1 Zornitza Stark reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.140 IL6R Zornitza Stark Publications for gene: IL6R were set to 31235509
Combined Immunodeficiency v1.139 IL6R Zornitza Stark Classified gene: IL6R as Green List (high evidence)
Combined Immunodeficiency v1.139 IL6R Zornitza Stark Gene: il6r has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.138 IL6R Zornitza Stark edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.

PMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed rating: GREEN; Changed publications: 31235509, 39277818, 40536180
Mendeliome v1.4159 IL6R Zornitza Stark Publications for gene: IL6R were set to 31235509
Mendeliome v1.4158 IL6R Zornitza Stark Classified gene: IL6R as Green List (high evidence)
Mendeliome v1.4158 IL6R Zornitza Stark Gene: il6r has been classified as Green List (High Evidence).
Mendeliome v1.4157 IL6R Zornitza Stark edited their review of gene: IL6R: Changed rating: GREEN
Mendeliome v1.4157 IL6R Zornitza Stark edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.

PMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed publications: 31235509, 39277818, 40536180
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Pituitary hormone deficiency v0.171 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Hypogonadotropic hypogonadism v0.79 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Differences of Sex Development v1.36 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Mendeliome v1.4157 IL17RD Zornitza Stark edited their review of gene: IL17RD: Changed rating: RED
Hereditary Spastic Paraplegia v1.138 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055
Hereditary Spastic Paraplegia v1.137 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Hereditary Spastic Paraplegia v1.137 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.136 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651, congenital neurodevelopmental syndrome, spastic paraplegia, multiple contractures, profound developmental delay, epilepsy, failure to thrive
Intellectual disability syndromic and non-syndromic v1.626 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Intellectual disability syndromic and non-syndromic v1.625 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.625 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.624 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.359 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Microcephaly v1.398 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Microcephaly v1.397 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Microcephaly v1.397 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Microcephaly v1.396 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Arthrogryposis v1.14 SEC31A Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110
Arthrogryposis v1.13 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Arthrogryposis v1.13 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Arthrogryposis v1.12 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Mendeliome v1.4157 SEC31A Zornitza Stark Publications for gene: SEC31A were set to PMID: 30464055; 40508110
Mendeliome v1.4156 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Mendeliome v1.4156 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Mendeliome v1.4155 SEC31A Zornitza Stark commented on gene: SEC31A: Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.
Mendeliome v1.4155 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Fetal anomalies v1.516 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Fetal anomalies v1.516 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.515 HEY2 Zornitza Stark reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4155 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Mendeliome v1.4155 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4154 HEY2 Zornitza Stark edited their review of gene: HEY2: Changed rating: AMBER
Congenital Heart Defect v0.522 HEY2 Zornitza Stark edited their review of gene: HEY2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital Heart Defect v0.522 HEY2 Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence)
Congenital Heart Defect v0.522 HEY2 Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.521 HEY2 Zornitza Stark edited their review of gene: HEY2: Added comment: PMID 32820247 reports a homozygous loss‑of‑function p.G108* in a Dutch isolate (3 homozygotes, 20 heterozygotes) causing severe congenital heart defects (CHD) and familial thoracic aortic aneurysm/dissection (FTAAD); functional luciferase, Western‑blot and qPCR assays show altered repression. Homozygotes (n = 3) had life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta.; Changed rating: AMBER; Changed publications: 40481234, 32820247
Intellectual disability syndromic and non-syndromic v1.624 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Developmental and epileptic encephalopathy 121, MIM# 621475
Intellectual disability syndromic and non-syndromic v1.623 LGI1 Zornitza Stark reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.359 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475
Genetic Epilepsy v1.358 LGI1 Zornitza Stark edited their review of gene: LGI1: Changed phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512, Developmental and epileptic encephalopathy 121, MIM# 621475; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4154 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475
Mendeliome v1.4153 LGI1 Zornitza Stark reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 121, MIM# 621475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.36 PLXNA1 Lucy Spencer Classified gene: PLXNA1 as Amber List (moderate evidence)
Differences of Sex Development v1.36 PLXNA1 Lucy Spencer Gene: plxna1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v1.35 PLXNA1 Lucy Spencer gene: PLXNA1 was added
gene: PLXNA1 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLXNA1 were set to 28334861; 30467832; 34636164
Phenotypes for gene: PLXNA1 were set to Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Review for gene: PLXNA1 was set to AMBER
Added comment: reported phenotype expansion for monoallelic Kallman syndrome:
PMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.

PMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.

PMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.

So at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.623 Sarah Milton Copied Region ISCA-46296-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.623 ISCA-46296-Loss Sarah Milton Region: ISCA-46296-Loss was added
Region: ISCA-46296-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46296-Loss were set to PMID: 25217958
Common deletion and duplication syndromes v0.150 ISCA-46296-Loss Sarah Milton Region: ISCA-46296-Loss was added
Region: ISCA-46296-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46296-Loss were set to PMID: 25217958
Added comment: HI3 deletion defined by Clingen, characteristic features include dev delay, ID, seizures, ASD

Slightly small del than ISCA 37396
Sources: ClinGen
Mendeliome v1.4153 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for a neurodevelopmental disorder in this gene is now RED, still GREEN for biallelic
Mendeliome v1.4153 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Changed publications: 34054129, 28464511, 28334861, 30467832, 34636164; Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955, Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4153 PLXNA1 Lucy Spencer Publications for gene: PLXNA1 were set to 34054129; 28464511
Mendeliome v1.4152 PLXNA1 Lucy Spencer Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955; Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Mendeliome v1.4151 PLXNA1 Lucy Spencer Mode of inheritance for gene: PLXNA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4150 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Added comment: reported phenotype expansion for monoallelic Kallman syndrome:
PMIDs 28334861 13 families with Kallman syndrome, however only 3 of these variants (His684Tyr Lys1618Thr Cys1744Phe) are absent from gnomad, the rest have at least 6 hets and most have over 20 hets. in transfected cells His684Tyr, Lys1618Thr and some of the common missense variants were shown to result in reduced total amounts of protein. In a minigene assay Cys1744Phe which is at the last base of an exon was shown to cause intron 28 retention which would be out of frame. No variants in this study were noted to be de novo.

PMID: 30467832 10 missense variants identified in patients with hypogonadotropic hypogonadism. Again some of the reported missense have over 20 hets in gnomad but 5 of the variants are rare or absent Lys1451Arg, Ser1850Arg, Ile1701Val, Pro485Leu and Val536Ile. All of these variants were either inherited from a parent or inheritance was unknown, and 1 individual had a better diagnosis with a nonsense in FGFR1 while other patients had variants in other genes amber for HH. No variants in this study were noted to be de novo.

PMID: 34636164 another 10 missense variants identified in 11 families with hypogonadotropic hypogonadism. However, only 3 were not common in gnomad; Pro848Arg, Ala1106Val, and Ser1709Leu. Ala1106Val and Ser1709Leu were both inherited from unaffected mothers, and most patients in this study also had variants of interest in other genes. No variants in this study were noted to be de novo.

So at least 10 reports of variants that are rare/absent in gnomad with Kallman syndrome, all missense variants, most without segregation information or inherited from unaffected/unknown if affected parents. Some with a bit of functional work. Many patients also have variants of interest in other genes amber or green for the same phenotype. borderline amber/green; Changed rating: AMBER; Changed phenotypes: Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Mendeliome v1.4150 LINGO4 Lucy Spencer Publications for gene: LINGO4 were set to PMID: 33098801
Mendeliome v1.4149 LINGO4 Lucy Spencer Phenotypes for gene: LINGO4 were changed from Developmental Delay, Intellectual disability, speech disorder to Neurodevelopmental disorder (MONDO:0700092), LINGO4-related
Mendeliome v1.4148 SRP72 Lucy Spencer edited their review of gene: SRP72: Changed publications: 40922878, 37176611, 41472573, 40510848, 41142505
Mendeliome v1.4148 SRP72 Lucy Spencer changed review comment from: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; to: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green
Mendeliome v1.4148 SRP72 Lucy Spencer Publications for gene: SRP72 were set to 22541560; 31254415; 40922878; 3717661; 41472573; 40510848; 41142505
Mendeliome v1.4147 SRP72 Lucy Spencer Publications for gene: SRP72 were set to 22541560; 31254415; 40922878
Mendeliome v1.4146 SRP72 Lucy Spencer edited their review of gene: SRP72: Added comment: PMID: 41142505 15yo with thrombocytopenia, mild anemia with macrocytosis and mild leukopenia. found to have a paternally inherited missense in SRP72 (2 hets in gnomad) along with maternally inherited missense (absent from gnomad) in TINF2 and deep intronic variant in TERT (absent from gnomad).

PMID: 41472573 6yo boy with aplastic anemia, pancytopenia and leukopenia, thrombocytopenia and reduced red cell count. Found to have a de novo canonical splice variant c.1502+1G>A that has 63 hets in gnomad. RT-PCR showed retention of 2bp leading to an out of frame product.

PMID: 40510848 1 individual in a congenital neuropenia cohort with an SPR72 variant. Variant only listed in the supplementary material Trp474*, inheritance unknown, absent from gnomad

PMID: 37176611 4yo girl with repeated infections and severe neutropenia. Found to have a paternally inherited balanced translocation t(3;8)(p26;q21)c, as well as maternally inherited synonymous variant in SRP72 and missense in ANKRD26. The synonymous variant in this case has over 4000 homs in gnomad and is very unlikely to be contributing to the phenotype.

Only 1 compelling report in PMID: 40510848, however other NMD variants are present in gnomad with high het counts. borderline amber/green; Changed publications: 40922878, 3717661, 41472573, 40510848, 41142505
Intellectual disability syndromic and non-syndromic v1.622 Sarah Milton Copied gene LAGE3 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.622 LAGE3 Sarah Milton gene: LAGE3 was added
gene: LAGE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, MIM# 301006
Infertility and Recurrent Pregnancy Loss v1.76 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ZNF185 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZNF185 were set to 39267058
Phenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.621 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF185 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZNF185 were set to 41404552
Phenotypes for gene: ZNF185 were set to Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 41404552 describes a single female individual with cerebro oculo nasal syndrome and a de novo heterozygous X linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes
Sources: Literature
Mendeliome v1.4146 ZNF185 Lucy Spencer edited their review of gene: ZNF185: Changed publications: 41404552, 39267058; Changed phenotypes: Azoospermia MONDO:0100459, ZNF185-related, Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4146 ZNF185 Lucy Spencer Publications for gene: ZNF185 were set to 39267058
Mendeliome v1.4145 ZNF185 Lucy Spencer Phenotypes for gene: ZNF185 were changed from Azoospermia MONDO:0100459, ZNF185-related to Azoospermia MONDO:0100459, ZNF185-related; Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4144 ZNF185 Lucy Spencer edited their review of gene: ZNF185: Added comment: PMID 41404552 describes a single female individual with cerebro‑oculo‑nasal syndrome and a de novo heterozygous X‑linked frameshift ZNF185. The proband presented with developmental delay, moderate ID, dysmorphic facial features, cleft lip/palate, nasal anomaly, CHD and anopthalmia. She was shown to have skewed X-inactivation 19:81, however it is not stated if the skewing was towards the allele with the variant. The variant in this individual (p.Gln102SerfsTer18) is NMD predicted and absent from gnomad, however there are at least 6 NMD variants present in gnomad as hemizygous (4 with over 4 hemis) all of which also have over 5 heterozygotes.; Changed publications: 41404552; Changed phenotypes: Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related
Mendeliome v1.4144 ZNF185 Lucy Spencer gene: ZNF185 was added
gene: ZNF185 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF185 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZNF185 were set to 39267058
Phenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related
Review for gene: ZNF185 was set to RED
Added comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants.
Sources: Literature
Mendeliome v1.4143 NLRP7 Zornitza Stark edited their review of gene: NLRP7: Changed rating: GREEN
Mendeliome v1.4143 NLRP7 Zornitza Stark changed review comment from: Two individuals reported with this phenotype and mono-allelic variants.; to: Five individuals reported with this phenotype and mono-allelic variants.
Mendeliome v1.4143 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from Hydatidiform mole, recurrent, 1 - MIM#231090 to Hydatidiform mole, recurrent, 1 - MIM#231090; Oocyte/zygote/embryo maturation arrest 25, MIM# 621471
Mendeliome v1.4142 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to 23201303; 23125094; 25097207; 26606510; 19650864; 23880596; 22770628; 26544189; 28428943; 21623199; 21439709; 33583041; 32055942; 19246479; 19066229; 34189227
Mendeliome v1.4141 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4140 NLRP7 Zornitza Stark Classified gene: NLRP7 as Green List (high evidence)
Mendeliome v1.4140 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Mendeliome v1.4139 NLRP7 Zornitza Stark reviewed gene: NLRP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 37148315; Phenotypes: Oocyte/zygote/embryo maturation arrest 25, MIM# 621471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4139 IMPG1 Bryony Thompson Mode of inheritance for gene: IMPG1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4138 IGF1 Bryony Thompson Mode of inheritance for gene: IGF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4137 PCBP1 Zornitza Stark Marked gene: PCBP1 as ready
Mendeliome v1.4137 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Mendeliome v1.4137 PCBP1 Zornitza Stark Classified gene: PCBP1 as Green List (high evidence)
Mendeliome v1.4137 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Marked gene: PCBP1 as ready
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Classified gene: PCBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.620 PCBP1 Zornitza Stark Gene: pcbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.619 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4136 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Mendeliome v1.4136 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4136 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Mendeliome v1.4136 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Autism v0.241 UNC13C Zornitza Stark Marked gene: UNC13C as ready
Autism v0.241 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Autism v0.241 UNC13C Zornitza Stark Classified gene: UNC13C as Amber List (moderate evidence)
Autism v0.241 UNC13C Zornitza Stark Gene: unc13c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4135 OSR2 Zornitza Stark Marked gene: OSR2 as ready
Mendeliome v1.4135 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Mendeliome v1.4135 OSR2 Zornitza Stark Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related
Mendeliome v1.4134 OSR2 Zornitza Stark Classified gene: OSR2 as Green List (high evidence)
Mendeliome v1.4134 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Mendeliome v1.4133 OSR2 Zornitza Stark reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Marked gene: OSR2 as ready
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.401 OSR2 Zornitza Stark Phenotypes for gene: OSR2 were changed from MONDO:0005497 to Skeletal dysplasia, MONDO:0018230, OSR2-related
Skeletal dysplasia v0.400 OSR2 Zornitza Stark Classified gene: OSR2 as Green List (high evidence)
Skeletal dysplasia v0.400 OSR2 Zornitza Stark Gene: osr2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.399 OSR2 Zornitza Stark reviewed gene: OSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, OSR2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.358 Zornitza Stark Copied gene GSPT2 from panel Fetal anomalies
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Genetic Epilepsy. Sources: Expert Review Green,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GSPT2 were set to 28414775; 41420488
Phenotypes for gene: GSPT2 were set to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.515 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Fetal anomalies v1.514 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Fetal anomalies v1.513 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Fetal anomalies v1.513 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Fetal anomalies v1.512 GSPT2 Zornitza Stark edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.618 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Intellectual disability syndromic and non-syndromic v1.617 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.617 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.616 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Intellectual disability syndromic and non-syndromic v1.615 GSPT2 Zornitza Stark edited their review of gene: GSPT2: Added comment: PMID 41420488: Six unrelated males reported with hemizygosity for variants in GSTP2 and neurodevelopmental disorder including intellectual disability, language impairment, autism, motor impairment, epilepsy, or abnormal fetal brain development. Variants were reported to be inherited from unaffected mothers. Functional evidence did support deleterious effects of the variants and gene knock-out.; Changed rating: GREEN; Changed publications: 28414775, 41420488; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Mendeliome v1.4133 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from Intellectual disability MONDO:0001071, GSPT2-related to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Mendeliome v1.4132 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to 28414775
Mendeliome v1.4131 GSPT2 Zornitza Stark Classified gene: GSPT2 as Green List (high evidence)
Mendeliome v1.4131 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Differences of Sex Development v1.34 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Differences of Sex Development v1.34 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Differences of Sex Development v1.34 Zornitza Stark Copied gene CCDC149 from panel Mendeliome
Differences of Sex Development v1.34 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Differences of Sex Development. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related
Mendeliome v1.4130 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Mendeliome v1.4130 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Mendeliome v1.4130 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related
Review for gene: CCDC149 was set to RED
Added comment: PMID 40459248 reports a single 8‑year‑old boy from a consanguineous family with bilateral cryptorchidism due to a homozygous nonsense CCDC149 variant (c.448C>T, p.Gln150Ter), biparental inheritance. Ccdc149 knockout mice recapitulate undescended testes and sperm abnormalities, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Mendeliome v1.4129 TFCP2L1 Zornitza Stark Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Mendeliome v1.4128 TFCP2L1 Zornitza Stark edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Renal Tubulopathies and related disorders v1.25 TFCP2L1 Zornitza Stark Phenotypes for gene: TFCP2L1 were changed from CAKUT, MONDO:0019719, TFGP2L1-related to Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Renal Tubulopathies and related disorders v1.24 TFCP2L1 Zornitza Stark edited their review of gene: TFCP2L1: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related
Mendeliome v1.4128 GDF2 Bryony Thompson Mode of inheritance for gene: GDF2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4127 LIPC Bryony Thompson Mode of inheritance for gene: LIPC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4126 LIM2 Bryony Thompson Mode of inheritance for gene: LIM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4125 LIM2 Bryony Thompson Mode of inheritance for gene: LIM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4124 SCN10A Chirag Patel changed review comment from: Comment on mode of pathogenicity: AD - GOF
AR - LOF; to: Episodic pain syndrome, familial, 2 MIM#615551 - AD - GOF (green)
Neurodevelopmental disorder (MONDO#0700092), SCN10A-related - AR - LOF (amber)
Mendeliome v1.4124 SCN10A Chirag Patel Deleted their comment
Mendeliome v1.4124 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from s) Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Mendeliome v1.4123 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2, MIM# 615551 to s) Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Mendeliome v1.4122 SCN10A Chirag Patel Publications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136
Mendeliome v1.4121 SCN10A Chirag Patel Mode of inheritance for gene: SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4120 SCN10A Chirag Patel Added comment: Comment on mode of pathogenicity: AD - GOF
AR - LOF
Mendeliome v1.4120 SCN10A Chirag Patel Mode of pathogenicity for gene: SCN10A was changed from to Other
Mendeliome v1.4119 Chirag Patel Added reviews for gene SCN10A from panel Genetic Epilepsy
Genetic Epilepsy v1.357 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.357 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A Chirag Patel Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.356 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A Chirag Patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A Chirag Patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.355 SCN10A Chirag Patel reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Movement Disorders Superpanel v3.180 Bryony Thompson Panel name changed from Tremors_Superpanel to Movement Disorders Superpanel
Changed child panels to: Early-onset Parkinson disease; Brain Channelopathies; Dystonia and Chorea; Paroxysmal Dyskinesia
Mendeliome v1.4118 Bryony Thompson Copied gene GPR88 from panel Dystonia and Chorea
Mendeliome v1.4118 GPR88 Bryony Thompson gene: GPR88 was added
gene: GPR88 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR88 were set to 27123486
Phenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839
Dystonia and Chorea v0.335 GPR88 Bryony Thompson Marked gene: GPR88 as ready
Dystonia and Chorea v0.335 GPR88 Bryony Thompson Gene: gpr88 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.335 GPR88 Bryony Thompson gene: GPR88 was added
gene: GPR88 was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: GPR88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR88 were set to 27123486
Phenotypes for gene: GPR88 were set to chorea, childhood-onset, with psychomotor retardation MONDO:0014839
Review for gene: GPR88 was set to RED
Added comment: Single consanguineous Palestinian family reported with a homozygous stopgain variant (c.873C>A, p.Cys291*)
Sources: Literature
Dystonia and Chorea v0.334 PRNP Bryony Thompson Marked gene: PRNP as ready
Dystonia and Chorea v0.334 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.334 PRNP Bryony Thompson Classified gene: PRNP as Green List (high evidence)
Dystonia and Chorea v0.334 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.333 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Dystonia and Chorea. Sources: Literature
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 30713928; 27400454
Phenotypes for gene: PRNP were set to Huntington disease-like 1 MONDO:0011299
Review for gene: PRNP was set to GREEN
Added comment: Chorea can be feature of inherited prionopathies.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark Marked gene: S100A3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark Gene: s100a3 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.332 Bryony Thompson Copied STR PRNP_CJD_octapeptide from panel Repeat Disorders
Dystonia and Chorea v0.332 PRNP_CJD_octapeptide Bryony Thompson STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PRNP_CJD_octapeptide.
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 Zornitza Stark Copied gene S100A3 from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v1.3 S100A3 Zornitza Stark gene: S100A3 was added
gene: S100A3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature
digenic tags were added to gene: S100A3.
Mode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A3 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark Marked gene: S100A13 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark Gene: s100a13 has been classified as Red List (Low Evidence).
Mendeliome v1.4117 S100A3 Zornitza Stark Marked gene: S100A3 as ready
Mendeliome v1.4117 S100A3 Zornitza Stark Gene: s100a3 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.331 Bryony Thompson Copied STR TBP_SCA17_CAG from panel Repeat Disorders
Dystonia and Chorea v0.331 TBP_SCA17_CAG Bryony Thompson STR: TBP_SCA17_CAG was added
STR: TBP_SCA17_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: TBP_SCA17_CAG.
Mode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606
Phenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136
Mendeliome v1.4117 S100A3 Zornitza Stark gene: S100A3 was added
gene: S100A3 was added to Mendeliome. Sources: Literature
digenic tags were added to gene: S100A3.
Mode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A3 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related
Review for gene: S100A3 was set to RED
Added comment: PMID 31073086 reports 13 individuals from 2 unrelated families, with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by hypomorphic S100A3 missense variant in a digenic context with high impact S100A13 homozygous variant. Functional studies in patient‑derived fibroblasts, iPSC‑derived alveolar cells and rescue experiments demonstrate reduced S100A3 expression, impaired calcium signalling, mitochondrial dysfunction and cytokine dysregulation, supporting pathogenicity.

However, note variant c.229C>T (p.R77C) is present in homozygous state in 12 individuals in gnomAD v4, hence S100A3 variant may be solely responsible.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 Zornitza Stark Copied gene S100A13 from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v1.2 S100A13 Zornitza Stark gene: S100A13 was added
gene: S100A13 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Literature
digenic tags were added to gene: S100A13.
Mode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A13 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related
Mendeliome v1.4116 GSPT2 Morten Herlin reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 41420488; Phenotypes: MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.4116 S100A13 Zornitza Stark changed review comment from: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature; to: PMID 31073086 reports 13 individuals from 2 families with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature
Mendeliome v1.4116 S100A13 Zornitza Stark Marked gene: S100A13 as ready
Mendeliome v1.4116 S100A13 Zornitza Stark Gene: s100a13 has been classified as Red List (Low Evidence).
Mendeliome v1.4116 S100A13 Zornitza Stark gene: S100A13 was added
gene: S100A13 was added to Mendeliome. Sources: Literature
digenic tags were added to gene: S100A13.
Mode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: S100A13 were set to 40497957; 38099297; 31073086
Phenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related
Review for gene: S100A13 was set to RED
Added comment: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13.
Sources: Literature
Dystonia and Chorea v0.330 Bryony Thompson Copied STR ATN1_DRPLA_CAG from panel Repeat Disorders
Dystonia and Chorea v0.330 ATN1_DRPLA_CAG Bryony Thompson STR: ATN1_DRPLA_CAG was added
STR: ATN1_DRPLA_CAG was added to Dystonia and Chorea. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: ATN1_DRPLA_CAG.
Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664
Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Clefting disorders v0.310 BOC Zornitza Stark Marked gene: BOC as ready
Clefting disorders v0.310 BOC Zornitza Stark Gene: boc has been classified as Red List (Low Evidence).
Clefting disorders v0.310 BOC Zornitza Stark Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related
Clefting disorders v0.309 BOC Zornitza Stark edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related
Mendeliome v1.4115 BOC Zornitza Stark Marked gene: BOC as ready
Mendeliome v1.4115 BOC Zornitza Stark Gene: boc has been classified as Red List (Low Evidence).
Mendeliome v1.4115 BOC Zornitza Stark Phenotypes for gene: BOC were changed from to Orofacial clefting, MONDO:0000358, BOC-related
Mendeliome v1.4114 BOC Zornitza Stark edited their review of gene: BOC: Changed phenotypes: Orofacial clefting, MONDO:0000358, BOC-related
Skeletal dysplasia v0.399 Sangavi Sivagnanasundram Copied gene OSR2 from panel Mendeliome
Skeletal dysplasia v0.399 OSR2 Sangavi Sivagnanasundram gene: OSR2 was added
gene: OSR2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSR2 were set to 41424369; 21262216
Phenotypes for gene: OSR2 were set to MONDO:0005497
Mendeliome v1.4114 OSR2 Sangavi Sivagnanasundram gene: OSR2 was added
gene: OSR2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OSR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OSR2 were set to 41424369; 21262216
Phenotypes for gene: OSR2 were set to MONDO:0005497
Review for gene: OSR2 was set to GREEN
Added comment: 41424369 reports six unrelated families (13 affected individuals) presenting with radioulnar synostosis, distal ulna hypoplasia, joint stiffness, ear deformities, scoliosis and short stature.

Variant: two nonsense, two missense at the same codon, and a 383‑kb deletion were reported. The variants segregate in an autosomal‑dominant pattern with incomplete penetrance and was identified de novo in one family

Functional assays (Western blot, immunofluorescence) demonstrate loss‑of‑function.

21262216 - Reports Osr2 knockout mice that recapitulate the human phenotype of joint fusion, supporting the loss-of-function mechanism of the disease.
Sources: Literature
Clefting disorders v0.309 Zornitza Stark Copied gene BOC from panel Mendeliome
Clefting disorders v0.309 BOC Zornitza Stark gene: BOC was added
gene: BOC was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BOC were set to 40464334; 28677295
Mendeliome v1.4113 BOC Zornitza Stark gene: BOC was added
gene: BOC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BOC were set to 40464334; 28677295
Review for gene: BOC was set to RED
Added comment: BOC encodes a cell‑surface co‑receptor for Sonic Hedgehog signaling. PMID 40464334 reports 4 unrelated families with heterozygous BOC variants causing non‑syndromic orofacial clefts (cleft palate and microform cleft lip); three variants are de novo and one segregates dominantly, and zebrafish and cell‑based assays confirm hypomorphic activity. PMID 28677295 and PMID 28915250 describe BOC missense variants in holoprosencephaly and Gorlin syndrome, respectively, but present them as modifier alleles without segregation or functional validation.

However, all reported variants have relatively high gnomAD frequencies, raising the possibility that these are susceptibility alleles.
Sources: Literature
Mendeliome v1.4112 AXDND1 Zornitza Stark Classified gene: AXDND1 as Green List (high evidence)
Mendeliome v1.4112 AXDND1 Zornitza Stark Gene: axdnd1 has been classified as Green List (High Evidence).
Mendeliome v1.4111 AXDND1 Zornitza Stark edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Ax​dnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255
Infertility and Recurrent Pregnancy Loss v1.75 AXDND1 Zornitza Stark Classified gene: AXDND1 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.75 AXDND1 Zornitza Stark Gene: axdnd1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.74 AXDND1 Zornitza Stark edited their review of gene: AXDND1: Added comment: PMID 38997255: Reports 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function or missense variants in AXDND1 presenting with non‑obstructive azoospermia/severe oligozoospermia. One family carries a homozygous stop‑gain (p.R313X) and two families carry heterozygous missense variants (p.Leu536Gln; p.Lys817Asn) with phenotypes ranging from Sertoli‑cell‑only syndrome to hypospermatogenesis. A mouse Ax​dnd1 knockout recapitulates male infertility, defective spermatogenesis and abnormal sperm tail ultrastructure, providing strong functional validation of gene loss‑of‑function as the disease mechanism.; Changed rating: GREEN; Changed publications: 40457935, 38997255
Autism v0.240 Sangavi Sivagnanasundram Copied gene UNC13C from panel Mendeliome
Autism v0.240 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Autism. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.615 Sangavi Sivagnanasundram Copied gene UNC13C from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.615 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.4111 UNC13C Sangavi Sivagnanasundram gene: UNC13C was added
gene: UNC13C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13C were set to 41399760
Phenotypes for gene: UNC13C were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: UNC13C was set to AMBER
Added comment: PMID 41399760 reports 11 individuals from 9 unrelated families with biallelic nonsense and missense UNC13C variants presenting with a severe neurodevelopmental disorder (global developmental delay, microcephaly, autism spectrum disorder, brain malformations, hypotonia). Inheritance is autosomal recessive. Drosophila knock‑in models examined ethanol sensitivity but did not reproduce neurodevelopmental phenotypes, offering limited functional support for pathogenicity.

Multiple different biallelic variants were reported - all were either absent or rare enough for AR gene in gnomAD v4.1 except for c.283C>T(p.Arg95Ter) which has a FAF of 0.4409%
Sources: Literature
Pain syndromes v0.37 SCN10A Chirag Patel reviewed gene: SCN10A: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4110 SCN10A Chirag Patel reviewed gene: SCN10A: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel Marked gene: SEPT2 as ready
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.614 Chirag Patel Copied gene SEPT2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.614 SEPT2 Chirag Patel gene: SEPT2 was added
gene: SEPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT2 were set to 41408595
Phenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related
Mendeliome v1.4110 Chirag Patel Added reviews for gene SEPT2 from panel Mendeliome
Mendeliome v1.4109 SEPT2 Chirag Patel Marked gene: SEPT2 as ready
Mendeliome v1.4109 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Mendeliome v1.4109 SEPT2 Chirag Patel Classified gene: SEPT2 as Green List (high evidence)
Mendeliome v1.4109 SEPT2 Chirag Patel Gene: sept2 has been classified as Green List (High Evidence).
Mendeliome v1.4108 SEPT2 Chirag Patel gene: SEPT2 was added
gene: SEPT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT2 were set to 41408595
Phenotypes for gene: SEPT2 were set to Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related
Review for gene: SEPT2 was set to GREEN
Added comment: 7 individuals from 6 families (5 unrelated) with heterozygous missense SEPTIN2 variants causing a neurodevelopmental disorder. Clinical features included developmental delay/intellectual disability (6/7), hearing loss (4/7), cleft palate (3/7), ptosis (3/7), septal heart defect (2/7), syndactyly (2/7), and ADHD (2/7).

Most variants were de novo (5 families) except 1 family where the variant was inherited from an affected mother. Functional assays demonstrated dominant‑negative disruption of Septin‑2 homodimerisation and axon initial segment formation. Expression of mutant Septin-2 constructs in neurons leads to the disappearance of canonical hallmarks of the axon initial segment.
Sources: Literature
Mendeliome v1.4107 PTPN13 Sangavi Sivagnanasundram reviewed gene: PTPN13: Rating: AMBER; Mode of pathogenicity: None; Publications: 41422331, 29093530; Phenotypes: bone marrow failure syndrome MONDO:0000159, PTPN13-related, Hirschsprung disease MONDO:0018309; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.613 Sarah Milton Copied gene PCBP1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.613 PCBP1 Sarah Milton gene: PCBP1 was added
gene: PCBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCBP1 were set to 41415500
Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related
Stroke v1.46 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from {Ischemic stroke, susceptibility to} MIM#601367 to {Ischemic stroke, susceptibility to} MIM#601367; Moyamoya disease, MONDO:0016820
Mendeliome v1.4107 PCBP1 Sarah Milton gene: PCBP1 was added
gene: PCBP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCBP1 were set to 41415500
Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PCBP1-related
Review for gene: PCBP1 was set to GREEN
Added comment: Below information taken from pre print paper.

PCBP1 encodes the poly(rC)-binding protein 1, an RNA‑binding protein involved in transcriptional and translational processes and splicing.

PMID 41415500 reports 13 unrelated individuals with heterozygous de‑novo truncating or missense variants in PCBP1 presenting with a neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder, hypotonia, and variable additional features (seizures 3/13, microcephaly 3/13, ophthalmologic features 6/13).

All variants absent from gnomAD v4 and LOF proposed mechanism of disease with a significant paucity of LOF variants in the gene in gnomAD.

Functional assays in primary mouse hippocampal neurons transfected with patient variants showed mixed results. RNA‑sequencing from three of the patients showed altered splicing of other genes thought secondary to variants in PCBP1.
Sources: Literature
Stroke v1.45 NOS3 Zornitza Stark Publications for gene: NOS3 were set to 24986538; 28084234
Stroke v1.44 NOS3 Zornitza Stark Mode of inheritance for gene: NOS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stroke v1.43 NOS3 Zornitza Stark Classified gene: NOS3 as Amber List (moderate evidence)
Stroke v1.43 NOS3 Zornitza Stark Gene: nos3 has been classified as Amber List (Moderate Evidence).
Stroke v1.42 Zornitza Stark Added reviews for gene NOS3 from panel Cerebral vascular malformations
Cerebral vascular malformations v1.12 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM# 621469
Mendeliome v1.4106 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from Moyamoya disease, MONDO:0016820 to Moyamoya disease 8, MIM# 621469
Dystonia and Chorea v0.329 Bryony Thompson Panel name changed from Dystonia - complex to Dystonia and Chorea
HPO terms changed from Dystonia, HP:0001332 to Dystonia, HP:0001332; Chorea, HP:0002072
List of related panels changed from Dystonia; HP:0001332 to Dystonia; HP:0001332; Chorea; HP:0002072
Dystonia and Chorea v0.328 Bryony Thompson Copied STR JPH3_HDL2_CTG from panel Repeat Disorders
Dystonia and Chorea v0.328 JPH3_HDL2_CTG Bryony Thompson STR: JPH3_HDL2_CTG was added
STR: JPH3_HDL2_CTG was added to Dystonia - complex. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: JPH3_HDL2_CTG.
Mode of inheritance for STR: JPH3_HDL2_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: JPH3_HDL2_CTG were set to 11558794; 20301701
Phenotypes for STR: JPH3_HDL2_CTG were set to Huntington disease-like 2 MIM#606438
Dystonia and Chorea v0.327 Bryony Thompson Copied STR HTT_HD_CAG from panel Repeat Disorders
Dystonia and Chorea v0.327 HTT_HD_CAG Bryony Thompson STR: HTT_HD_CAG was added
STR: HTT_HD_CAG was added to Dystonia - complex. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: HTT_HD_CAG.
Mode of inheritance for STR: HTT_HD_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_HD_CAG were set to 8458085; 20301482; 29325606
Phenotypes for STR: HTT_HD_CAG were set to Huntington disease MIM#143100
Dystonia and Chorea v0.326 Bryony Thompson Copied gene VPS11 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.326 VPS11 Bryony Thompson gene: VPS11 was added
gene: VPS11 was added to Dystonia - complex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 33452836
Phenotypes for gene: VPS11 were set to Dystonia 32, MIM# 619637; Dystonia, adult-onset
Dystonia and Chorea v0.325 Bryony Thompson Copied gene TUBB4A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.325 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4A were set to 23424103; 23595291; 33084096; 32943487
Phenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Dystonia and Chorea v0.324 Bryony Thompson Copied gene TOR1A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.324 TOR1A Bryony Thompson gene: TOR1A was added
gene: TOR1A was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 9288096; 19955557; 18477710; 32243914; 31583275; 31347572
Phenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100
Dystonia and Chorea v0.323 Bryony Thompson Copied gene THAP1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.323 THAP1 Bryony Thompson gene: THAP1 was added
gene: THAP1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: THAP1 were set to 21793105; 22377579; 36205328; 21425335; 20211909
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia; MONDO:0011264
Dystonia and Chorea v0.322 Bryony Thompson Copied gene TH from panel Dystonia - isolated/combined
Dystonia and Chorea v0.322 TH Bryony Thompson gene: TH was added
gene: TH was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407; MONDO:0011551
Dystonia and Chorea v0.321 Bryony Thompson Copied STR TAF1_XDP_CCCTCT from panel Dystonia - isolated/combined
Dystonia and Chorea v0.321 TAF1_XDP_CCCTCT Bryony Thompson STR: TAF1_XDP_CCCTCT was added
STR: TAF1_XDP_CCCTCT was added to Dystonia - complex. Sources: Expert Review Green,Expert list
founder tags were added to STR: TAF1_XDP_CCCTCT.
Mode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810
Phenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250
Dystonia and Chorea v0.320 Bryony Thompson Copied gene SPR from panel Dystonia - isolated/combined
Dystonia and Chorea v0.320 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to 11443547; 18502672; 22522443; 16532389; 31777525; 29147684; 28189489
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994
Dystonia and Chorea v0.319 Bryony Thompson Copied gene SLC2A1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.319 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC2A1 were set to Dystonia 9, MIM# 601042; MONDO:0010983
Dystonia and Chorea v0.318 Bryony Thompson Copied gene SGCE from panel Dystonia - isolated/combined
Dystonia and Chorea v0.318 SGCE Bryony Thompson gene: SGCE was added
gene: SGCE was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 11528394; 12821748; 16227522
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Dystonia and Chorea v0.317 Bryony Thompson Copied gene RELN from panel Dystonia - isolated/combined
Dystonia and Chorea v0.317 RELN Bryony Thompson gene: RELN was added
gene: RELN was added to Dystonia - complex. Sources: Expert Review Red,Other
Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELN were set to 32334381; 25648840
Phenotypes for gene: RELN were set to Myoclonus-dystonia syndrome MONDO:0000903
Dystonia and Chorea v0.316 Bryony Thompson Copied gene PRRT2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.316 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22101681; 22120146; 22744660; 22399141
Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494
Dystonia and Chorea v0.315 Bryony Thompson Copied gene PRKRA from panel Dystonia - isolated/combined
Dystonia and Chorea v0.315 PRKRA Bryony Thompson gene: PRKRA was added
gene: PRKRA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
founder tags were added to gene: PRKRA.
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 18243799; 25142429; 29279192
Phenotypes for gene: PRKRA were set to Dystonia 16, MIM# 612067; MONDO:0012789
Dystonia and Chorea v0.314 Bryony Thompson Copied gene PODXL from panel Dystonia - isolated/combined
Dystonia and Chorea v0.314 PODXL Bryony Thompson gene: PODXL was added
gene: PODXL was added to Dystonia - complex. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PODXL were set to 26864383
Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease
Dystonia and Chorea v0.313 Bryony Thompson Copied gene PNKD from panel Dystonia - isolated/combined
Dystonia and Chorea v0.313 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259; 19124534; 21487022
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Dystonia and Chorea v0.312 Bryony Thompson Copied gene PDE10A from panel Dystonia - isolated/combined
Dystonia and Chorea v0.312 PDE10A Bryony Thompson gene: PDE10A was added
gene: PDE10A was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to PMID 27058447
Phenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)
Dystonia and Chorea v0.311 Bryony Thompson Copied gene PARK7 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.311 PARK7 Bryony Thompson gene: PARK7 was added
gene: PARK7 was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARK7 were set to 29644727
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset MIM#606324
Dystonia and Chorea v0.310 Bryony Thompson Copied gene NIT1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.310 NIT1 Bryony Thompson gene: NIT1 was added
gene: NIT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIT1 were set to 38430071
Phenotypes for gene: NIT1 were set to Brain small vessel disease 4, MIM# 621313
Penetrance for gene: NIT1 were set to unknown
Dystonia and Chorea v0.309 Bryony Thompson Copied gene KMT2B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.309 KMT2B Bryony Thompson gene: KMT2B was added
gene: KMT2B was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2B were set to 27839873; 27992417
Phenotypes for gene: KMT2B were set to early-onset dystonia; Dystonia 28, childhood-onset 617284; MONDO:0015004
Dystonia and Chorea v0.308 Bryony Thompson Copied gene KCTD17 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.308 KCTD17 Bryony Thompson gene: KCTD17 was added
gene: KCTD17 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCTD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCTD17 were set to 25983243; 30642807; 30579817
Phenotypes for gene: KCTD17 were set to Dystonia 26, myoclonic MIM#616398
Dystonia and Chorea v0.307 Bryony Thompson Copied gene KCNN2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.307 KCNN2 Bryony Thompson gene: KCNN2 was added
gene: KCNN2 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN2 were set to 32212350; 33242881
Phenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Dystonia and Chorea v0.306 Bryony Thompson Copied gene KCNMA1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.306 KCNMA1 Bryony Thompson gene: KCNMA1 was added
gene: KCNMA1 was added to Dystonia - complex. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 26195193; 15937479; 29356177
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446
Mode of pathogenicity for gene: KCNMA1 was set to Other
Dystonia and Chorea v0.305 Bryony Thompson Copied gene HPCA from panel Dystonia - isolated/combined
Dystonia and Chorea v0.305 HPCA Bryony Thompson gene: HPCA was added
gene: HPCA was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 25799108; 30991467; 30145809
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; MONDO:0009141; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Dystonia and Chorea v0.304 Bryony Thompson Copied gene GNAL from panel Dystonia - isolated/combined
Dystonia and Chorea v0.304 GNAL Bryony Thompson gene: GNAL was added
gene: GNAL was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 33175450; 32180288
Phenotypes for gene: GNAL were set to Dystonia 25, MIM# 615073; MONDO:0014033
Dystonia and Chorea v0.303 Bryony Thompson Copied gene GCH1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.303 GCH1 Bryony Thompson gene: GCH1 was added
gene: GCH1 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 7874165; 11113234; 15753436
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Dystonia and Chorea v0.302 Bryony Thompson Copied gene GABRB3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.302 GABRB3 Bryony Thompson gene: GABRB3 was added
gene: GABRB3 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Dystonia and Chorea v0.301 Bryony Thompson Copied gene DRD2 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.301 DRD2 Bryony Thompson gene: DRD2 was added
gene: DRD2 was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DRD2 were set to 33200438
Phenotypes for gene: DRD2 were set to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems
Penetrance for gene: DRD2 were set to Complete
Mode of pathogenicity for gene: DRD2 was set to Other
Dystonia and Chorea v0.300 Bryony Thompson Copied gene COL6A3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.300 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 26004199; 32037012; 26872670; 32037012
Phenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411
Dystonia and Chorea v0.299 Bryony Thompson Copied gene CIZ1 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.299 CIZ1 Bryony Thompson gene: CIZ1 was added
gene: CIZ1 was added to Dystonia - complex. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIZ1 were set to 27163549; 29154038; 22447717
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Dystonia and Chorea v0.298 Bryony Thompson Copied gene CACNA1B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.298 CACNA1B Bryony Thompson gene: CACNA1B was added
gene: CACNA1B was added to Dystonia - complex. Sources: Expert Review Red,Other
Mode of inheritance for gene: CACNA1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1B were set to 25296916; 26157024; 35698023; 33051750; 35041927
Phenotypes for gene: CACNA1B were set to Myoclonus-dystonia syndrome MONDO:0000903
Dystonia and Chorea v0.297 Bryony Thompson Copied gene C9orf3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.297 C9orf3 Bryony Thompson gene: C9orf3 was added
gene: C9orf3 was added to Dystonia - complex. Sources: Expert Review Green,Literature
new gene name tags were added to gene: C9orf3.
Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf3 were set to 34596301
Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565
Dystonia and Chorea v0.296 Bryony Thompson Copied gene ATP5B from panel Dystonia - isolated/combined
Dystonia and Chorea v0.296 ATP5B Bryony Thompson gene: ATP5B was added
gene: ATP5B was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP5B were set to 36860166; 40276935
Phenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related
Penetrance for gene: ATP5B were set to Incomplete
Dystonia and Chorea v0.295 Bryony Thompson Copied gene ATP1A3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.295 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Dystonia - complex. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 15260953; 17282997; 19351654, 22842232, 24468074, 33762331, 29861155, 31425744
Phenotypes for gene: ATP1A3 were set to ATP1A3-associated neurological disorder, MONDO:0700002
Dystonia and Chorea v0.294 Bryony Thompson Copied gene ARFGEF3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.294 ARFGEF3 Bryony Thompson gene: ARFGEF3 was added
gene: ARFGEF3 was added to Dystonia - complex. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARFGEF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF3 were set to PMID: 33098801
Phenotypes for gene: ARFGEF3 were set to Dystonia, MONDO:0044807, ARFGEF3-related
Dystonia and Chorea v0.293 Bryony Thompson Copied gene ANO3 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.293 ANO3 Bryony Thompson gene: ANO3 was added
gene: ANO3 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO3 were set to 33388357
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Dystonia and Chorea v0.292 Bryony Thompson Copied gene ADCY5 from panel Dystonia - isolated/combined
Dystonia and Chorea v0.292 ADCY5 Bryony Thompson gene: ADCY5 was added
gene: ADCY5 was added to Dystonia - complex. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598; 34631954; 28971144; 30975617
Phenotypes for gene: ADCY5 were set to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Intellectual disability syndromic and non-syndromic v1.612 MAEA Bryony Thompson Classified gene: MAEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.612 MAEA Bryony Thompson Gene: maea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.611 Bryony Thompson Added reviews for gene MAEA from panel Mendeliome
Mendeliome v1.4105 MAEA Bryony Thompson Classified gene: MAEA as Green List (high evidence)
Mendeliome v1.4105 MAEA Bryony Thompson Gene: maea has been classified as Green List (High Evidence).
Mendeliome v1.4104 MAEA Bryony Thompson Publications for gene: MAEA were set to 40880485
Mendeliome v1.4103 MAEA Bryony Thompson reviewed gene: MAEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 41420108, 40880485; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Parkinson disease v2.49 TENM4 Bryony Thompson Phenotypes for gene: TENM4 were changed from Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376 to tremor, hereditary essential, 5 MONDO:0014756
Early-onset Parkinson disease v2.48 TENM4 Bryony Thompson changed review comment from: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.

Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.

PMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association

PMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported
Sources: Literature; to: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.
Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.
Sources: Literature
Early-onset Parkinson disease v2.48 Bryony Thompson Copied gene TENM4 from panel Mendeliome
Early-onset Parkinson disease v2.48 TENM4 Bryony Thompson gene: TENM4 was added
gene: TENM4 was added to Early-onset Parkinson disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103
Phenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376
Mendeliome v1.4103 TENM4 Bryony Thompson Classified gene: TENM4 as Amber List (moderate evidence)
Mendeliome v1.4103 TENM4 Bryony Thompson Gene: tenm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4102 TENM4 Bryony Thompson gene: TENM4 was added
gene: TENM4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TENM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TENM4 were set to 41449293; 36689009; 26188006; 29249217; 34589676; 22915103
Phenotypes for gene: TENM4 were set to Neurodevelopmental disorder, MONDO:0700092; tremor, hereditary essential, 5 MONDO:0014756; first branchial cleft anomaly MONDO:0015376
Review for gene: TENM4 was set to AMBER
Added comment: TENM4 encodes a type II transmembrane teneurin involved in neuronal development and oligodendrocyte maturation.

Amber for essential tremor - 2 families with rare missense and supporting segregation evidence, plus mouse & zebrafish models. 2 other GDAs have limited evidence.
PMID 26188006 - 3 families reported with essential tremor with incomplete segregation. 2 of the variants (p.Ala1442Thr and p.Val1138Met) are more common than expected in gnomAD. p.Thr1367Asn is a rare missense and segregates with ET over 3 generations (2 unaffected carriers under the average age of onset). Functional assays demonstrate dominant‑negative effects in oligodendrocyte precursor cells and zebrafish axon‑guidance defects for all 3 variants.
 PMID 36689009 - rare heterozygous missense (p.P421L) segregating in 5 affected individuals with ET in a single family
 PMID 29249217 -  a case with hereditary tremor‑like syndrome with palatal tremor but no description of the TENM4 variant in the paper.
PMID 22915103 - myelination of small-diameter axons was dramatically reduced, and differentiation of oligodendrocytes, the myelin-forming cells in the CNS, was inhibited in null mouse model.

PMID 34589676 - 2 rare missense in 2 patients with first branchial cleft anomalies. No other evidence. Multiple missense in different genes in one of the patients. - limited evidence for gene-disease association

PMID 41449293 - rare splice variant identified in a single family (segregates in 6 individuals) with childhood‑onset intellectual disability with epilepsy. Splice‑site‑mediated exon 10 skipping leading to seizures in a mouse model, supporting a pathogenic role. - single family reported
Sources: Literature
Mendeliome v1.4101 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4100 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, MIM# 618435 to Arthrogryposis, distal, type 2B2, MIM# 618435; Nemaline myopathy MONDO:0018958
Mendeliome v1.4099 TNNT3 Zornitza Stark Mode of inheritance for gene: TNNT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4098 TNNT3 Zornitza Stark edited their review of gene: TNNT3: Added comment: Three individuals from two unrelated families with bi-allelic variants and nemaline myopathy.; Changed publications: 12865991, 19142688, 21402185, 25337069, 17194691, 33977145, 29266598, 23775847; Changed phenotypes: Arthrogryposis, distal, type 2B2, MIM# 618435, Nemaline myopathy MONDO:0018958; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.387 SETX Zornitza Stark Marked gene: SETX as ready
Incidentalome v0.387 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Incidentalome v0.387 SETX Zornitza Stark Phenotypes for gene: SETX were changed from to Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)
Incidentalome v0.386 SETX Zornitza Stark Publications for gene: SETX were set to
Incidentalome v0.385 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.384 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Incidentalome v0.384 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Incidentalome v0.384 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive 612953
Incidentalome v0.383 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Incidentalome v0.382 PLA2G6 Zornitza Stark Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v2.44 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Autoinflammatory Disorders v2.43 NOD2 Zornitza Stark Publications for gene: NOD2 were set to 15459013
Autoinflammatory Disorders v2.42 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v2.41 NOD2 Zornitza Stark edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.

Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4098 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Mendeliome v1.4097 NOD2 Zornitza Stark Publications for gene: NOD2 were set to 15459013
Mendeliome v1.4096 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4095 NOD2 Zornitza Stark edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease.
Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4095 NCSTN Zornitza Stark Phenotypes for gene: NCSTN were changed from to Acne inversa, familial, 1 MIM#142690
Mendeliome v1.4094 NCSTN Zornitza Stark Publications for gene: NCSTN were set to
Mendeliome v1.4093 NCSTN Zornitza Stark Mode of inheritance for gene: NCSTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.398 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Skeletal dysplasia v0.397 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.396 EVC2 Zornitza Stark edited their review of gene: EVC2: Added comment: Both conditions have skeletal manifestations.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.300 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Polydactyly v0.300 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Polydactyly v0.300 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530
Polydactyly v0.299 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4092 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome (MIM#225500) to Ellis-van Creveld syndrome (MIM#225500); Weyers acrofacial dysostosis, MIM# 193530
Mendeliome v1.4091 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4090 EVC2 Zornitza Stark edited their review of gene: EVC2: Added comment: Variants associated with Weyers acrofacial dysostosis cluster in exon 22.; Changed phenotypes: Ellis-van Creveld syndrome (MIM#225500), Weyers acrofacial dysostosis, MIM# 193530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.117 Sarah Milton Copied gene B3GNT4 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.117 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.65 Sarah Milton Copied gene B3GNT4 from panel Mendeliome
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.65 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Mendeliome v1.4090 B3GNT4 Sarah Milton gene: B3GNT4 was added
gene: B3GNT4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GNT4 were set to 41444428
Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related
Review for gene: B3GNT4 was set to RED
Added comment: PMID 41444428 reports 1 individual from 1 family with autosomal recessive homozygous missense variant c.478G>T (p.G160W) presenting with late‑onset progressive brain atrophy and muscular dystrophy. The patient had normal development until age 8, then progressive motor decline, spastic paresis, severe muscle wasting, elevated CK, loss of language, and died at 47 years of age from respiratory failure. A knock‑in mouse model reproduces the muscle but not CNS aspects of phenotype.
Sources: Literature
Mendeliome v1.4089 RNU4-2 Zornitza Stark Phenotypes for gene: RNU4-2 were changed from Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851; Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Mendeliome v1.4088 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538; 40297424
Mendeliome v1.4087 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 39830270: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis. PREPRINT; Changed publications: 38991538, 40297424, 39830270; Changed phenotypes: Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851, Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Classified gene: RNU4-2 as Green List (high evidence)
Retinitis pigmentosa v0.235 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.234 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Retinitis pigmentosa v0.234 RNU4-2 Zornitza Stark gene: RNU4-2 was added
gene: RNU4-2 was added to Retinitis pigmentosa. Sources: Literature
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 39830270
Phenotypes for gene: RNU4-2 were set to Retinitis pigmentosa, MONDO:0019200, RNU4-2 related
Review for gene: RNU4-2 was set to GREEN
Added comment: Reports 36 individuals from 13 unrelated families with heterozygous dominant variants n.18_19insA and n.56T>C in RNU4-2 presenting with autosomal dominant retinitis pigmentosa (adRP). Night‑blindness and progressive peripheral vision loss start in late adolescence/early adulthood, with classic RP fundus changes, cystoid macular edema, and cataracts. Both inherited and de novo cases are observed. Immunoprecipitation assays demonstrate increased association of mutant U4 snRNA with di‑snRNP proteins SART3 and PRPF31, indicating a gain‑of‑function/dominant‑negative effect on snRNP biogenesis.

PREPRINT
Sources: Literature
Genetic Epilepsy v1.355 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark Marked gene: AP1M2 as ready
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark Gene: ap1m2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v2.41 Zornitza Stark Copied gene AP1M2 from panel Mendeliome
Autoinflammatory Disorders v2.41 AP1M2 Zornitza Stark gene: AP1M2 was added
gene: AP1M2 was added to Autoinflammatory Disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1M2 were set to 41451456
Phenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778
Mendeliome v1.4087 AP1M2 Zornitza Stark Marked gene: AP1M2 as ready
Mendeliome v1.4087 AP1M2 Zornitza Stark Gene: ap1m2 has been classified as Red List (Low Evidence).
Mendeliome v1.4087 AP1M2 Zornitza Stark gene: AP1M2 was added
gene: AP1M2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1M2 were set to 41451456
Phenotypes for gene: AP1M2 were set to Inborn error of immunity, MONDO:0003778
Review for gene: AP1M2 was set to RED
Added comment: PMID 41451456 reports a single individual with biallelic splice‑site loss‑of‑function variant presenting with early‑onset autoinflammatory disease with severe colitis, failure‑to‑thrive, and perianal fistula. Functional studies demonstrate exon 10 skipping, loss of μ‑subunit interaction with TGN38, NF‑κB hyperactivation, and colitis in Ap1m2‑deficient mice that is rescued by TNFR1 knockout.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark Marked gene: NDUFA3 as ready
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.610 Zornitza Stark Copied gene NDUFA3 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.610 NDUFA3 Zornitza Stark gene: NDUFA3 was added
gene: NDUFA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA3 were set to 41038977; 39661167
Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence)
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Mitochondrial disease v1.11 NDUFA3 Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351
Mendeliome v1.4086 NDUFA3 Zornitza Stark Publications for gene: NDUFA3 were set to 41038977; 39661167
Mendeliome v1.4085 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence)
Mendeliome v1.4085 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Mendeliome v1.4084 NDUFA3 Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351
Mendeliome v1.4084 G6PC Zornitza Stark Marked gene: G6PC as ready
Mendeliome v1.4084 G6PC Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is G6PC1.
Mendeliome v1.4084 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
Mendeliome v1.4084 G6PC Zornitza Stark Tag new gene name tag was added to gene: G6PC.
Hypertrophic cardiomyopathy v1.22 Zornitza Stark Panel name changed from Hypertrophic cardiomyopathy_HCM to Hypertrophic cardiomyopathy
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Skeletal dysplasia v0.396 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.395 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Skeletal dysplasia v0.395 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER; Changed publications: 25391829, 21892160, 29636449
Intellectual disability syndromic and non-syndromic v1.609 MIR17HG Zornitza Stark Publications for gene: MIR17HG were set to PMID: 25391829; 21892160
Intellectual disability syndromic and non-syndromic v1.608 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.608 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.607 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV.
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v1.607 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449
Mendeliome v1.4084 MIR17HG Zornitza Stark Classified gene: MIR17HG as Amber List (moderate evidence)
Mendeliome v1.4084 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4083 MIR17HG Zornitza Stark changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV
Sources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.
Sources: Expert list
Mendeliome v1.4083 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Changed rating: AMBER
Mendeliome v1.4083 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Mendeliome v1.4083 MIR17HG Zornitza Stark edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449
Skeletal dysplasia v0.395 MIR140 Zornitza Stark Classified gene: MIR140 as Amber List (moderate evidence)
Skeletal dysplasia v0.395 MIR140 Zornitza Stark Gene: mir140 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.394 MIR140 Zornitza Stark edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Mendeliome v1.4083 MIR140 Zornitza Stark Classified gene: MIR140 as Amber List (moderate evidence)
Mendeliome v1.4083 MIR140 Zornitza Stark Gene: mir140 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4082 MIR140 Zornitza Stark edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Intellectual disability syndromic and non-syndromic v1.607 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Intellectual disability syndromic and non-syndromic v1.606 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.355 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Genetic Epilepsy v1.354 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4082 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Mendeliome v1.4081 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v1.30 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Lissencephaly and Band Heterotopia v1.29 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: None
Mendeliome v1.4081 MYO9B Zornitza Stark Publications for gene: MYO9B were set to 16720215; 16423886; 16282976
Mendeliome v1.4080 MYO9B Zornitza Stark reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40382695; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.21 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.280 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Marked gene: JUP as ready
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.217 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Cardiomyopathy_Paediatric v0.216 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.215 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Marked gene: JUP as ready
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.106 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia, Naxos disease to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Ectodermal Dysplasia v0.105 JUP Zornitza Stark Publications for gene: JUP were set to
Ectodermal Dysplasia v0.104 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.103 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.
Ectodermal Dysplasia v0.103 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v1.131 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v1.130 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4080 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4079 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.
Mendeliome v1.4079 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.35 JUP Zornitza Stark Marked gene: JUP as ready
Desmosomal disorders v0.35 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Desmosomal disorders v0.35 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214
Desmosomal disorders v0.34 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.33 JUP Zornitza Stark changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos disease: DEFINITIVE by ClinGen.
Desmosomal disorders v0.33 JUP Zornitza Stark edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.55 JUP Zornitza Stark edited their review of gene: JUP: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.55 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.76 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.75 JUP Zornitza Stark changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for the biallelic association.

Limited evidence for mono allelic association.
Arrhythmogenic Cardiomyopathy v0.75 JUP Zornitza Stark edited their review of gene: JUP: Changed phenotypes: Naxos disease, MIM# 601214, Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypoparathyroidism v1.12 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v1.606 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Intellectual disability syndromic and non-syndromic v1.605 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.354 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.353 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Mendeliome v1.4079 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Mendeliome v1.4078 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Intellectual disability syndromic and non-syndromic v1.605 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255
Intellectual disability syndromic and non-syndromic v1.604 COPB1 Zornitza Stark Publications for gene: COPB1 were set to 33632302
Intellectual disability syndromic and non-syndromic v1.603 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.603 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.602 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Cataract v0.537 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255
Cataract v0.536 COPB1 Zornitza Stark Publications for gene: COPB1 were set to 33632302
Cataract v0.535 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Cataract v0.535 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed rating: GREEN
Cataract v0.535 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Cataract v0.535 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Mendeliome v1.4078 COPB1 Zornitza Stark Classified gene: COPB1 as Green List (high evidence)
Mendeliome v1.4078 COPB1 Zornitza Stark Gene: copb1 has been classified as Green List (High Evidence).
Mendeliome v1.4077 COPB1 Zornitza Stark edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 40396222, 33632302; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255
Leukodystrophy v0.392 CNP Zornitza Stark Publications for gene: CNP were set to 32128616; 12590258
Leukodystrophy v0.391 CNP Zornitza Stark Classified gene: CNP as Green List (high evidence)
Leukodystrophy v0.391 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Leukodystrophy v0.390 CNP Zornitza Stark edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark Marked gene: CNP as ready
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Regression v0.602 CNP Zornitza Stark Marked gene: CNP as ready
Regression v0.602 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Regression v0.602 Zornitza Stark Copied gene CNP from panel Mendeliome
Regression v0.602 CNP Zornitza Stark gene: CNP was added
gene: CNP was added to Regression. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258; 40396300
Phenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Intellectual disability syndromic and non-syndromic v1.602 Zornitza Stark Copied gene CNP from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.602 CNP Zornitza Stark gene: CNP was added
gene: CNP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258; 40396300
Phenotypes for gene: CNP were set to Leukodystrophy, hypomyelinating, 20, MIM# 619071
Leukodystrophy v0.390 Zornitza Stark Added reviews for gene CNP from panel Mendeliome
Mendeliome v1.4077 CNP Zornitza Stark edited their review of gene: CNP: Changed phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071
Mendeliome v1.4077 CNP Zornitza Stark Publications for gene: CNP were set to 32128616; 12590258
Mendeliome v1.4076 CNP Zornitza Stark Classified gene: CNP as Green List (high evidence)
Mendeliome v1.4076 CNP Zornitza Stark Gene: cnp has been classified as Green List (High Evidence).
Mendeliome v1.4075 CNP Zornitza Stark edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300, 32128616; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark Marked gene: SPAG17 as ready
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark Gene: spag17 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.74 Zornitza Stark Copied gene SPAG17 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.74 SPAG17 Zornitza Stark gene: SPAG17 was added
gene: SPAG17 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG17 were set to 28548327; 40330001; 39686771
Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380
Mendeliome v1.4075 SPAG17 Zornitza Stark Publications for gene: SPAG17 were set to 28548327
Mendeliome v1.4074 SPAG17 Zornitza Stark Classified gene: SPAG17 as Green List (high evidence)
Mendeliome v1.4074 SPAG17 Zornitza Stark Gene: spag17 has been classified as Green List (High Evidence).
Mendeliome v1.4073 SPAG17 Zornitza Stark edited their review of gene: SPAG17: Added comment: Recent studies (PMIDs 28548327, 39686771, 40330001 and supporting mouse data in PMID 29690537) expand SPAG17‑associated male infertility to four unrelated families (seven affected individuals) with biallelic loss‑of‑function variants causing severe asthenozoospermia, multiple morphological abnormalities of the flagella (MMAF) or oligoasthenoteratozoospermia. Detailed semen analyses, sperm ultrastructure, immunofluorescence, Western blot, qPCR and TEM demonstrate loss of SPAG17 protein and axonemal defects, while a Spag17 knockout mouse recapitulates the infertility phenotype.; Changed rating: GREEN; Changed publications: 40330001, 39686771, 28548327
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark Marked gene: C1orf146 as ready
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark Gene: c1orf146 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.73 Zornitza Stark Copied gene C1orf146 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.73 C1orf146 Zornitza Stark gene: C1orf146 was added
gene: C1orf146 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf146 were set to 40374915; 37270785
Phenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related
Mendeliome v1.4073 C1orf146 Zornitza Stark Marked gene: C1orf146 as ready
Mendeliome v1.4073 C1orf146 Zornitza Stark Gene: c1orf146 has been classified as Red List (Low Evidence).
Mendeliome v1.4073 C1orf146 Zornitza Stark gene: C1orf146 was added
gene: C1orf146 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf146 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf146 were set to 40374915; 37270785
Phenotypes for gene: C1orf146 were set to Infertility disorder, MONDO:0005047, C1orf146-related
Review for gene: C1orf146 was set to RED
Added comment: PMID 37270785 reports a 36‑year‑old woman with a homozygous splice‑site loss‑of‑function SPO16 variant (c.160+8A>G) presenting with premature ovarian insufficiency; minigene splicing assays demonstrated exon 3 skipping. PMID 40374915 describes a male from a separate unrelated family carrying a homozygous frameshift SPO16 variant (c.266del) who has non‑obstructive azoospermia with meiotic arrest; no functional studies were performed.
Sources: Literature
Mendeliome v1.4072 SKIV2L Zornitza Stark commented on gene: SKIV2L: New HGNC approved name is SKIC2
Mendeliome v1.4072 SKIV2L Zornitza Stark Tag new gene name tag was added to gene: SKIV2L.
Mendeliome v1.4072 HBD Zornitza Stark Marked gene: HBD as ready
Mendeliome v1.4072 HBD Zornitza Stark Gene: hbd has been classified as Green List (High Evidence).
Mendeliome v1.4072 Zornitza Stark Copied gene HBD from panel Red cell disorders
Mendeliome v1.4072 HBD Zornitza Stark gene: HBD was added
gene: HBD was added to Mendeliome. Sources: Expert Review Green,Yorkshire and North East GLH,NHS GMS,Wessex and West Midlands GLH,North West GLH,London South GLH
Mode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBD were set to 27630894; 25490067
Phenotypes for gene: HBD were set to Thalassaemia, delta-; Thalassaemia due to Hb Lepore
Growth failure v1.95 PFAS Zornitza Stark Marked gene: PFAS as ready
Growth failure v1.95 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark Marked gene: PFAS as ready
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.601 Zornitza Stark Copied gene PFAS from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.601 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark Marked gene: PFAS as ready
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Growth failure v1.95 Zornitza Stark Copied gene PFAS from panel Mendeliome
Growth failure v1.95 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Growth failure. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Miscellaneous Metabolic Disorders v1.60 Zornitza Stark Copied gene PFAS from panel Mendeliome
Miscellaneous Metabolic Disorders v1.60 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Mendeliome v1.4071 PFAS Zornitza Stark Marked gene: PFAS as ready
Mendeliome v1.4071 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4071 PFAS Zornitza Stark Classified gene: PFAS as Amber List (moderate evidence)
Mendeliome v1.4071 PFAS Zornitza Stark Gene: pfas has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4070 PFAS Zornitza Stark gene: PFAS was added
gene: PFAS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PFAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFAS were set to 40421664
Phenotypes for gene: PFAS were set to Inborn error of metabolism, MONDO:0019052, PFAS-related
Review for gene: PFAS was set to AMBER
Added comment: PMID 40421664 reports 2 individuals from 2 unrelated families with biallelic missense variants presenting with prematurity, short stature, seizures, and mild neurodevelopmental impairment. Functional studies in patient fibroblasts show ~30% PFAS protein, ~16% enzyme activity, impaired purinosome formation, and rescue of purinosome formation and FGAR levels by wild‑type PFAS, supporting pathogenicity.
Sources: Literature
Mendeliome v1.4069 MAEL Zornitza Stark Marked gene: MAEL as ready
Mendeliome v1.4069 MAEL Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4069 MAEL Zornitza Stark Classified gene: MAEL as Amber List (moderate evidence)
Mendeliome v1.4069 MAEL Zornitza Stark Gene: mael has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4068 MAEL Zornitza Stark gene: MAEL was added
gene: MAEL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAEL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAEL were set to 40442410; 39122675
Phenotypes for gene: MAEL were set to Spermatogenic failure, MONDO:0004983, MAEL-related
Review for gene: MAEL was set to AMBER
Added comment: PMID 39122675 reports 1 individual and PMID 40442410 reports a second individual, together 2 unrelated families with autosomal recessive loss‑of‑function MAEL variants causing non‑obstructive azoospermia with meiotic arrest (male infertility). Functional evidence includes a minigene splicing assay and IHC loss of MAEL protein, as well as protein structural modelling, evolutionary conservation analysis, and a mouse knockout model that recapitulates spermatogenic failure.
Sources: Literature
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark Marked gene: LY9 as ready
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.29 Zornitza Stark Copied gene LY9 from panel Mendeliome
Defects of intrinsic and innate immunity v1.29 LY9 Zornitza Stark gene: LY9 was added
gene: LY9 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY9 were set to 40446017
Phenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related
Mendeliome v1.4067 LY9 Zornitza Stark Marked gene: LY9 as ready
Mendeliome v1.4067 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Mendeliome v1.4067 LY9 Zornitza Stark Classified gene: LY9 as Green List (high evidence)
Mendeliome v1.4067 LY9 Zornitza Stark Gene: ly9 has been classified as Green List (High Evidence).
Mendeliome v1.4066 LY9 Zornitza Stark gene: LY9 was added
gene: LY9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LY9 were set to 40446017
Phenotypes for gene: LY9 were set to Inborn error of immunity, MONDO:0003778, LY9-related
Review for gene: LY9 was set to GREEN
Added comment: PMID 40446017 reports three individuals from three unrelated families with biallelic loss-of-function LY9 frameshift variants presenting with active tuberculosis (infant pulmonary TB, adult pulmonary TB, mediastinal tuberculous lymphadenitis). Detailed clinical phenotyping, segregation data, and rescue experiments demonstrate LY9 deficiency as the genetic cause of TB susceptibility.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark Marked gene: FOXK2 as ready
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark Gene: foxk2 has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v1.116 Zornitza Stark Copied gene FOXK2 from panel Mendeliome
Muscular dystrophy and myopathy_Paediatric v1.116 FOXK2 Zornitza Stark gene: FOXK2 was added
gene: FOXK2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXK2 were set to 40410591
Phenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related
Mendeliome v1.4065 FOXK2 Zornitza Stark Marked gene: FOXK2 as ready
Mendeliome v1.4065 FOXK2 Zornitza Stark Gene: foxk2 has been classified as Red List (Low Evidence).
Mendeliome v1.4065 FOXK2 Zornitza Stark gene: FOXK2 was added
gene: FOXK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXK2 were set to 40410591
Phenotypes for gene: FOXK2 were set to Myopathy, MONDO:0005336, FOXK2-related
Review for gene: FOXK2 was set to RED
Added comment: PMID 40410591 reports five affected individuals from one family with isolated congenital ptosis and additional affected individuals from four families with congenital myopathy and ptosis, all carrying heterozygous missense variants in FOXK2 inherited in an autosomal dominant manner; functional assays in zebrafish, muscle‑specific mouse knockout, and FOXK2‑KO C2C12 cells demonstrate reduced protein levels, impaired myogenic differentiation and mitochondrial dysfunction that are rescued by wild‑type FOXK2. However, all the variants are present in gnomAD, including one in over 2,000 individuals, hence Red rating.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark Marked gene: DUSP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark Gene: dusp1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 Zornitza Stark Copied gene DUSP1 from panel Mendeliome
Palmoplantar Keratoderma and Erythrokeratoderma v0.141 DUSP1 Zornitza Stark gene: DUSP1 was added
gene: DUSP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUSP1 were set to 40359362
Phenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related
Mendeliome v1.4064 DUSP1 Zornitza Stark Marked gene: DUSP1 as ready
Mendeliome v1.4064 DUSP1 Zornitza Stark Gene: dusp1 has been classified as Red List (Low Evidence).
Mendeliome v1.4064 DUSP1 Zornitza Stark gene: DUSP1 was added
gene: DUSP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DUSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUSP1 were set to 40359362
Phenotypes for gene: DUSP1 were set to Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related
Review for gene: DUSP1 was set to RED
Added comment: PMID 40359362 reports four individuals from two unrelated families with heterozygous and homozygous missense variants in DUSP1 presenting with semidominant palmoplantar keratoderma, focal hyperkeratosis, and, in homozygotes, severe PPK with hearing loss. Functional assays in primary keratinocytes and 3‑D skin equivalents demonstrate reduced DUSP1 protein, increased ERK1/2 phosphorylation, and rescue by ERK1/2 inhibition. The inheritance is postulated to be semidominant (monoallelic and biallelic) with dose‑dependent severity -- one family has two heterozygous individuals (insufficient segregation) and second family has a more severely affected homozygous individual and affected parent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.600 Sarah Milton Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.600 ISCA-46295-Loss Sarah Milton Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Genetic Epilepsy v1.353 Sarah Milton Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.353 ISCA-46295-Loss Sarah Milton Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Intellectual disability syndromic and non-syndromic v1.599 Sarah Milton Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.599 ISCA-46290-Gain Sarah Milton Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Genetic Epilepsy v1.352 Sarah Milton Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.352 ISCA-46290-Gain Sarah Milton Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 19716111; 27605428; 29707408; 16900295
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Red cell disorders v1.43 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Red cell disorders v1.43 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Red cell disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Radial Ray Abnormalities v1.21 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Radial Ray Abnormalities v1.21 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Intellectual disability syndromic and non-syndromic v1.598 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.598 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Fetal anomalies v1.512 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.512 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Diamond Blackfan anaemia v1.15 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Diamond Blackfan anaemia v1.15 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Diamond Blackfan anaemia. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Bone Marrow Failure v1.136 Sarah Milton Copied Region ISCA-37500-Loss from panel Common deletion and duplication syndromes
Bone Marrow Failure v1.136 ISCA-37500-Loss Sarah Milton Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Bone Marrow Failure. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to 20921022; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Intellectual disability syndromic and non-syndromic v1.597 Sarah Milton Copied Region ISCA-37498-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.597 ISCA-37498-Loss Sarah Milton Region: ISCA-37498-Loss was added
Region: ISCA-37498-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen
Mode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.596 DLAT Zornitza Stark Publications for gene: DLAT were set to
Intellectual disability syndromic and non-syndromic v1.595 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.595 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Mitochondrial disease v1.11 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v0.381 TARDBP Zornitza Stark Mode of inheritance for gene: TARDBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.380 TARDBP Zornitza Stark reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v1.53 SORL1 Zornitza Stark Marked gene: SORL1 as ready
Early-onset Dementia v1.53 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v1.53 Zornitza Stark Copied gene SORL1 from panel Incidentalome
Early-onset Dementia v1.53 SORL1 Zornitza Stark gene: SORL1 was added
gene: SORL1 was added to Early-onset Dementia. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SORL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SORL1 were set to 27026413; 39226352; 40182695
Phenotypes for gene: SORL1 were set to Alzheimer disease, MONDO:0004975, SORL1-related
Incidentalome v0.380 SORL1 Zornitza Stark Marked gene: SORL1 as ready
Incidentalome v0.380 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.380 SORL1 Zornitza Stark Phenotypes for gene: SORL1 were changed from to Alzheimer disease, MONDO:0004975, SORL1-related
Incidentalome v0.379 SORL1 Zornitza Stark Publications for gene: SORL1 were set to
Incidentalome v0.378 SORL1 Zornitza Stark edited their review of gene: SORL1: Changed publications: 27026413, 39226352, 40182695
Incidentalome v0.378 SORL1 Zornitza Stark Mode of inheritance for gene: SORL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.377 SORL1 Zornitza Stark Classified gene: SORL1 as Amber List (moderate evidence)
Incidentalome v0.377 SORL1 Zornitza Stark Gene: sorl1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.376 SORL1 Zornitza Stark reviewed gene: SORL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975, SORL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.376 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Incidentalome v0.376 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Incidentalome v0.376 SOD1 Zornitza Stark Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 MIM#105400; Spastic tetraplegia and axial hypotonia, progressive MIM#618598
Incidentalome v0.375 SOD1 Zornitza Stark Publications for gene: SOD1 were set to
Incidentalome v0.374 SOD1 Zornitza Stark Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Genetic Epilepsy v1.350 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.349 Zornitza Stark Added reviews for gene RNU4-2 from panel Intellectual disability syndromic and non-syndromic
Intellectual disability syndromic and non-syndromic v1.594 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Intellectual disability syndromic and non-syndromic v1.593 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.592 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4063 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Mendeliome v1.4062 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4061 RNU4-2 Zornitza Stark edited their review of gene: RNU4-2: Added comment: PMID 40297424: preprint reporting 16 individuals from 10 families with balletic variants and presenting with global developmental delay, intellectual disability, speech delay or absence, hypotonia, spasticity, microcephaly, ophthalmologic and visual impairment, seizures, and variable genital, skin, hair and limb anomalies; brain MRI shows distinctive white‑matter abnormalities and cerebellar atrophy.; Changed publications: 38991538, 40297424; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4061 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267
Mendeliome v1.4060 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4059 ITGB3 Zornitza Stark edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.68 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552; Glanzmann thrombasthenia 2, MIM# 619267
Bleeding and Platelet Disorders v1.67 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to 18065693; 19336737; 20081061; 23253071
Bleeding and Platelet Disorders v1.66 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.65 ITGB3 Zornitza Stark edited their review of gene: ITGB3: Added comment: Multiple families reported with biallelic variants and Glanzmann thrombasthenia.; Changed publications: 18065693, 19336737, 20081061, 23253071, 20020534; Changed phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552, Glanzmann thrombasthenia 2, MIM# 619267; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.10 GBE1 Zornitza Stark Publications for gene: GBE1 were set to 8613547
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 GBE1 Zornitza Stark edited their review of gene: GBE1: Added comment: PMID 30303820 reports several cases presenting with fetal akinesia, the severe end of the spectrum for this gene.; Changed publications: 8613547, 30303820
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 Zornitza Stark Copied gene GBE1 from panel Arthrogryposis
Multiple pterygium syndrome_Fetal akinesia sequence v1.9 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 8613547
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark commented on gene: ATP9A: Seizures reported with both MOIs.
Genetic Epilepsy v1.348 Zornitza Stark Copied gene ATP9A from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.348 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ATP9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295; 36604604; 40226306
Phenotypes for gene: ATP9A were set to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242
Intellectual disability syndromic and non-syndromic v1.592 ATP9A Zornitza Stark Publications for gene: ATP9A were set to 34379057; 34764295
Intellectual disability syndromic and non-syndromic v1.591 ATP9A Zornitza Stark Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.590 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 34379057, 34764295, 36604604, 40226306; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4059 ATP9A Zornitza Stark Publications for gene: ATP9A were set to 34379057; 34764295
Mendeliome v1.4058 ATP9A Zornitza Stark Mode of inheritance for gene: ATP9A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.4057 ATP9A Zornitza Stark edited their review of gene: ATP9A: Added comment: PMIDs 34379057, 34764295, 36604604 and 40226306 report 12 unrelated families with ATP9A variants. Six families carry biallelic loss‑of‑function variants causing an autosomal recessive neurodevelopmental disorder with post‑natal microcephaly, failure‑to‑thrive and behavioural abnormalities; five families carry de novo heterozygous missense variants causing autosomal dominant nonsyndromic intellectual disability with seizures and autism‑like features. Multiple functional studies in patient cells, mouse knock‑out models and rescue assays provide strong loss‑of‑function evidence.; Changed publications: 40226306, 36604604, 34764295, 34379057; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrichosis syndromes v0.48 KCNN3 Chirag Patel Classified gene: KCNN3 as Green List (high evidence)
Hypertrichosis syndromes v0.48 KCNN3 Chirag Patel Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.590 DLAT Chris Ciotta reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 39007626, 29093066, 16049940; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.72 Sarah Milton Copied Region ISCA-37494-Loss from panel Common deletion and duplication syndromes
Infertility and Recurrent Pregnancy Loss v1.72 ISCA-37494-Loss Sarah Milton Region: ISCA-37494-Loss was added
Region: ISCA-37494-Loss was added to Infertility and Recurrent Pregnancy Loss. Sources: ClinGen
Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752
Common deletion and duplication syndromes v0.149 ISCA-37494-Loss Sarah Milton Region: ISCA-37494-Loss was added
Region: ISCA-37494-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen
Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752
Review for Region: ISCA-37494-Loss was set to GREEN
Added comment: HI3 region defined by Clingen encompasses BRCC3, CLIC2, F8, RAB39B.
Interestingly described females thus far show no phenotype due to skewed X inactivation, thought to be lethal for males (some reports of increased pregnancy loss in carrier mothers)
Sources: ClinGen
Intellectual disability syndromic and non-syndromic v1.590 Sarah Milton Copied Region ISCA-37494-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.590 ISCA-37494-Gain Sarah Milton Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37494-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37494-Gain were set to 25927380; 20301461; 32043567; 32112660
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Microcephaly v1.396 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.396 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v1.590 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.590 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Genetic Epilepsy v1.347 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.347 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Callosome v0.587 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Callosome v0.587 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Callosome. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Severe early-onset obesity v1.26 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Severe early-onset obesity v1.26 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Intellectual disability syndromic and non-syndromic v1.589 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.589 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Autism v0.239 Sarah Milton Copied Region ISCA-37486-Loss from panel Common deletion and duplication syndromes
Autism v0.239 ISCA-37486-Loss Sarah Milton Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37486-Loss.
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to 19914906; 32993859; 32732550; 32597026; 32537635
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Severe early-onset obesity v1.25 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Severe early-onset obesity v1.25 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Intellectual disability syndromic and non-syndromic v1.588 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.588 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Hypogonadotropic hypogonadism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Hypogonadotropic hypogonadism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Congenital hypothyroidism v0.79 Sarah Milton Copied Region ISCA-37478-Loss from panel Common deletion and duplication syndromes
Congenital hypothyroidism v0.79 ISCA-37478-Loss Sarah Milton Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Mackenzie's Mission_Reproductive Carrier Screening v0.111 CTU2 Sinead OSullivan gene: CTU2 was added
gene: CTU2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to (PMID: 26633546): (PMID: 27480277): (PMID: 31301155): (PMID: 8348206)
Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense

PMID: 38348206
- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect
- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A)
Sources: Literature
Genomic newborn screening: BabyScreen+ v1.147 CTU2 Sinead OSullivan gene: CTU2 was added
gene: CTU2 was added to Genomic newborn screening: BabyScreen+. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to PMID: 31301155; 27480277; 26633546
Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 26633546
- 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant
- all had microcephaly but measurements were not provided

PMID: 27480277
- 2 additional patients from an extended consanguineous family with the same variant as above
- Patient 1: head circumference of -3.5SD at birth, not growing
- Patient 2: head circumference of -4.3 SD

PMID: 31301155
- 5 new patients with microcephaly (no measurements provided)
- 3x PTVs and 1x missense

PMID: 38348206
- 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect
- From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A)
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.587 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.587 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Genetic Epilepsy v1.346 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.346 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Autism v0.238 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Autism v0.238 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Autism. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Common deletion and duplication syndromes v0.148 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.586 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.585 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.585 ISCA-37468-Loss Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.584 Sarah Milton Copied Region ISCA-37468-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.584 ISCA-37468-Loss Sarah Milton Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen,Expert Review Green
SV/CNV tags were added to Region: ISCA-37468-Loss.
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789
Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton changed review comment from: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.; to: Below reviews refer to a different region than that which is defined by this region/ISCA. MAOA and MAOB are the genes encompassed by this deletion, with Clingen noting the phenotype is encompassed by intellectual disability, episodic hypotonia and anomalies in levels of catecholamines.
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Common deletion and duplication syndromes v0.147 ISCA-37468-Loss Sarah Milton Chromosome Xp11.3 deletion syndrome was changed to Xp11.23 region (includes MAOA and MAOB) Loss
Source Expert list was removed from Region: ISCA-37468-Loss.
Source ClinGen was added to Region: ISCA-37468-Loss.
Gene was set to MAOB. Panel: Common deletion and duplication syndromes
Hand and foot malformations v0.82 Sarah Milton Copied Region ISCA-37467-Gain from panel Common deletion and duplication syndromes
Hand and foot malformations v0.82 ISCA-37467-Gain Sarah Milton Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787
Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Severe Combined Immunodeficiency v1.29 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Severe Combined Immunodeficiency v1.29 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v1.583 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.583 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Genetic Epilepsy v1.345 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.345 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Congenital Heart Defect v0.521 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.521 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Clefting disorders v0.308 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.308 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Calcium and Phosphate disorders v1.31 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Calcium and Phosphate disorders v1.31 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Calcium and Phosphate disorders. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Intellectual disability syndromic and non-syndromic v1.582 Sarah Milton Copied Region ISCA-37446-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.582 ISCA-37446-Gain Sarah Milton Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Intellectual disability syndromic and non-syndromic v1.582 Sarah Milton Copied Region ISCA-37443-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.582 ISCA-37443-Loss Sarah Milton Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115
Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism
Intellectual disability syndromic and non-syndromic v1.581 Sarah Milton Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.581 ISCA-37441-Loss Sarah Milton Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Monogenic Diabetes v0.159 Sarah Milton Copied Region ISCA-37442-Gain from panel Common deletion and duplication syndromes
Monogenic Diabetes v0.159 ISCA-37442-Gain Sarah Milton Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37442-Gain.
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729
Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410
Craniosynostosis v1.74 Sarah Milton Copied Region ISCA-37441-Loss from panel Common deletion and duplication syndromes
Craniosynostosis v1.74 ISCA-37441-Loss Sarah Milton Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Craniosynostosis. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Mitochondrial disease v1.11 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Mitochondrial disease v1.11 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disease. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Intellectual disability syndromic and non-syndromic v1.580 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.580 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Aminoacidopathy v1.139 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Aminoacidopathy v1.139 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Aminoacidopathy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Cerebral vascular malformations v1.11 Sangavi Sivagnanasundram Copied gene LATS1 from panel Mendeliome
Cerebral vascular malformations v1.11 LATS1 Sangavi Sivagnanasundram gene: LATS1 was added
gene: LATS1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LATS1 were set to 35986120
Phenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037
Mendeliome v1.4057 LATS1 Sangavi Sivagnanasundram gene: LATS1 was added
gene: LATS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LATS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LATS1 were set to 35986120
Phenotypes for gene: LATS1 were set to cerebral cavernous malformations MONDO:0031037
Review for gene: LATS1 was set to RED
Added comment: LATS1 encodes a serine‑threonine kinase in the Hippo signaling pathway that regulates YAP activity.
One reported Chinese family with missense variant (c.821C>T, p.Thr274Ile) in LATS1 and a phenotype consistent with CCM on imaging. The variant appeared to segregate in the family in affected individuals however there are multiple individuals that weren't assessed.
Sources: Literature
Mendeliome v1.4056 YME1L1 Zornitza Stark Phenotypes for gene: YME1L1 were changed from Optic atrophy 11, MIM#617302 to Optic atrophy 11, MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related
Mendeliome v1.4055 YME1L1 Zornitza Stark Publications for gene: YME1L1 were set to 30544562; 27495975
Mendeliome v1.4054 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048; Changed phenotypes: Optic atrophy 11, MIM#617302, Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.10 YME1L1 Zornitza Stark Phenotypes for gene: YME1L1 were changed from Optic atrophy 11 MIM#617302 to Optic atrophy 11 MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Changed phenotypes: Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark Publications for gene: YME1L1 were set to 30544562; 27495975
Mitochondrial disease v1.8 YME1L1 Zornitza Stark Deleted their comment
Mitochondrial disease v1.8 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Marked gene: PACRG as ready
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Gene: pacrg has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Infertility and Recurrent Pregnancy Loss v1.70 PACRG Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.70 Zornitza Stark Copied gene PACRG from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.70 PACRG Zornitza Stark gene: PACRG was added
gene: PACRG was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACRG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Phenotypes for gene: PACRG were set to Spermatogenic failure, MONDO:0004983, PACRG-related
Mendeliome v1.4054 PACRG Zornitza Stark Phenotypes for gene: PACRG were changed from to Spermatogenic failure, MONDO:0004983, PACRG-related
Mendeliome v1.4053 PACRG Zornitza Stark Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298
Mendeliome v1.4052 PACRG Zornitza Stark Mode of inheritance for gene: PACRG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4051 PACRG Zornitza Stark edited their review of gene: PACRG: Added comment: PMID 34089056 and PMID 40298292 report 2 individuals from 2 families with biallelic loss-of-function variants presenting with severe sperm head defects and impaired motility (DFS‑MMAF), causing male infertility. Both studies provide detailed clinical phenotyping but lack segregation analysis and functional validation. Also, both report the same variant so can't be certain the individuals are unrelated.; Changed publications: 40298292, 34089056; Changed phenotypes: Spermatogenic failure, MONDO:0004983, PACRG-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.579 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Intellectual disability syndromic and non-syndromic v1.578 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.586 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Callosome v0.586 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Callosome v0.586 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.585 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Genetic Epilepsy v1.343 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Arthrogryposis v1.12 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Arthrogryposis v1.11 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Arthrogryposis v1.10 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Arthrogryposis v1.10 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.577 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.577 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Genetic Epilepsy v1.342 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Genetic Epilepsy v1.342 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Fetal anomalies v1.511 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Callosome v0.584 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Callosome v0.584 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Callosome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Fetal anomalies v1.510 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Fetal anomalies v1.510 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Fetal anomalies v1.509 SCYL2 Zornitza Stark reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40243816, 39169672, 31960134; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v1.9 Zornitza Stark Added reviews for gene SCYL2 from panel Mendeliome
Mendeliome v1.4051 SCYL2 Zornitza Stark Classified gene: SCYL2 as Green List (high evidence)
Mendeliome v1.4051 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Mendeliome v1.4050 SCYL2 Zornitza Stark edited their review of gene: SCYL2: Added comment: PMID 31960134, 39169672, 40243816, and 36344539 collectively report seven unrelated families with biallelic SCYL2 variants. Five families present a severe syndromic arthrogryposis multiplex congenita (Zain syndrome/AMC4) featuring arthrogryposis, microcephaly, corpus callosum agenesis, optic atrophy, epilepsy and early lethality. Two families display a milder neurodevelopmental disorder with speech delay, autism spectrum disorder, intellectual disability and dysmorphic features but no arthrogryposis. Mouse knockout models and patient‑cell Western blot demonstrate loss‑of‑function, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40243816, 39169672, 31960134; Changed phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Mendeliome v1.4050 PPP5C Zornitza Stark Publications for gene: PPP5C were set to 35361529; 25363768; 33057194
Mendeliome v1.4049 PPP5C Zornitza Stark reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.576 PPP5C Zornitza Stark Publications for gene: PPP5C were set to 35361529; 25363768; 33057194
Intellectual disability syndromic and non-syndromic v1.575 PPP5C Zornitza Stark reviewed gene: PPP5C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40172746; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPP5C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.575 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.575 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.574 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMID 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Genetic Epilepsy v1.341 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Genetic Epilepsy v1.341 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Mendeliome v1.4049 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Mendeliome v1.4049 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Genetic Epilepsy v1.340 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Mendeliome v1.4048 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in ClinGen assessment, upgrade to Green.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Congenital Disorders of Glycosylation v1.82 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Congenital Disorders of Glycosylation v1.82 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.81 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Additional cases reported that were not included in the ClinGen assessment, upgraded to Green.; Changed rating: GREEN; Changed publications: 40180615, 39924787, 39766333, 38055078
Fetal anomalies v1.509 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from Cleft lip to Orofacial cleft MONDO:0000358, ESRP2-related
Fetal anomalies v1.508 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Fetal anomalies v1.507 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Fetal anomalies v1.507 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Fetal anomalies v1.506 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39179789; Phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.307 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152 to Orofacial cleft MONDO:0000358, ESRP2-related
Clefting disorders v0.306 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Changed phenotypes: Orofacial cleft MONDO:0000358, ESRP2-related
Clefting disorders v0.306 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Clefting disorders v0.305 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Clefting disorders v0.305 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Clefting disorders v0.304 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789
Mendeliome v1.4048 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from Orofacial cleft MONDO:0000358 to Orofacial cleft MONDO:0000358, ESRP2-related
Mendeliome v1.4047 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to 29805042
Mendeliome v1.4046 ESRP2 Zornitza Stark Classified gene: ESRP2 as Green List (high evidence)
Mendeliome v1.4046 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Green List (High Evidence).
Mendeliome v1.4045 ESRP2 Zornitza Stark edited their review of gene: ESRP2: Added comment: Further functional work on some of the variants in PMID 39179789.; Changed rating: GREEN; Changed publications: 29805042, 39179789
Intellectual disability syndromic and non-syndromic v1.574 Sarah Milton Copied Region ISCA-37439-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.574 ISCA-37439-Gain Sarah Milton Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37439-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37439-Gain were set to PMID: 20004760
Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Intellectual disability syndromic and non-syndromic v1.573 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.573 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Genetic Epilepsy v1.340 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.340 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Deafness_IsolatedAndComplex v1.316 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Deafness_IsolatedAndComplex v1.316 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Congenital Heart Defect v0.520 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.520 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Hereditary Spastic Paraplegia v1.136 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Hereditary Spastic Paraplegia v1.135 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.572 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Intellectual disability syndromic and non-syndromic v1.571 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.583 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Callosome v0.582 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.339 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Genetic Epilepsy v1.338 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4045 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Mendeliome v1.4044 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v1.28 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Severe Combined Immunodeficiency v1.28 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Severe Combined Immunodeficiency. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Intellectual disability syndromic and non-syndromic v1.571 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.571 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Genetic Epilepsy v1.338 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.338 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Congenital Heart Defect v0.519 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.519 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Clefting disorders v0.304 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Clefting disorders v0.304 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Clefting disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Calcium and Phosphate disorders v1.30 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Calcium and Phosphate disorders v1.30 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Calcium and Phosphate disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Intellectual disability syndromic and non-syndromic v1.570 Sarah Milton Copied Region ISCA-37433-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.570 ISCA-37433-Gain Sarah Milton Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Renal Macrocystic Disease v0.104 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Renal Macrocystic Disease v0.104 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Renal Macrocystic Disease. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Monogenic Diabetes v0.158 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Monogenic Diabetes v0.158 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Monogenic Diabetes. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Intellectual disability syndromic and non-syndromic v1.569 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.569 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Ciliopathies v1.97 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Ciliopathies v1.97 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Cholestasis v1.6 Sarah Milton Copied Region ISCA-37432-Loss from panel Common deletion and duplication syndromes
Cholestasis v1.6 ISCA-37432-Loss Sarah Milton Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Cholestasis. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Microcephaly v1.395 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Microcephaly v1.395 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Microcephaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Intellectual disability syndromic and non-syndromic v1.568 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.568 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Genetic Epilepsy v1.337 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.337 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Callosome v0.582 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Callosome v0.582 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Callosome. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Sarcoma soft tissue v1.1 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Sarcoma soft tissue v1.1 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Sarcoma soft tissue. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Rasopathy v0.112 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Rasopathy v0.112 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Rasopathy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Paraganglioma_phaeochromocytoma v1.2 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Paraganglioma_phaeochromocytoma v1.2 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Paraganglioma_phaeochromocytoma. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Macrocephaly_Megalencephaly v0.161 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Macrocephaly_Megalencephaly v0.161 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Intellectual disability syndromic and non-syndromic v1.567 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.567 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Hydrocephalus_Ventriculomegaly v0.133 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Hydrocephalus_Ventriculomegaly v0.133 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Facial papules v1.1 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Facial papules v1.1 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Facial papules. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Congenital Heart Defect v0.518 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.518 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Cerebral vascular malformations v1.10 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Cerebral vascular malformations v1.10 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cerebral vascular malformations. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Cancer Predisposition_Paediatric v0.133 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Cancer Predisposition_Paediatric v0.133 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cancer Predisposition_Paediatric. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Breast Cancer v1.19 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Breast Cancer v1.19 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Breast Cancer. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Autism v0.237 Sarah Milton Copied Region ISCA-37431-Loss from panel Common deletion and duplication syndromes
Autism v0.237 ISCA-37431-Loss Sarah Milton Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Autism. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Microcephaly v1.394 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.394 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Lissencephaly and Band Heterotopia v1.29 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Lissencephaly and Band Heterotopia v1.29 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Lissencephaly and Band Heterotopia. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Intellectual disability syndromic and non-syndromic v1.566 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.566 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Fetal anomalies v1.506 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.506 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Cerebral Palsy v1.407 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Cerebral Palsy v1.407 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Cerebral Palsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Callosome v0.581 Sarah Milton Copied Region ISCA-37430-Loss from panel Common deletion and duplication syndromes
Callosome v0.581 ISCA-37430-Loss Sarah Milton Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Callosome. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Neurotransmitter Defects v1.8 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.145 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4044 GCH1 Bryony Thompson Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.4043 GCH1 Bryony Thompson Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Hereditary spastic paraplegia MONDO:0019064, GCH1-related to GTP cyclohydrolase I deficiency MONDO:0100184
Palmoplantar Keratoderma and Erythrokeratoderma v0.140 FAM83G Bryony Thompson Publications for gene: FAM83G were set to PMID: 29138053
Palmoplantar Keratoderma and Erythrokeratoderma v0.139 FAM83G Bryony Thompson Classified gene: FAM83G as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.139 FAM83G Bryony Thompson Gene: fam83g has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.138 Bryony Thompson Added reviews for gene FAM83G from panel Mendeliome
Hair disorders v0.82 Bryony Thompson Copied gene FAM83G from panel Mendeliome
Hair disorders v0.82 FAM83G Bryony Thompson gene: FAM83G was added
gene: FAM83G was added to Hair disorders. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 41384122; 39449644; 39043225; 29138053
Phenotypes for gene: FAM83G were set to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
Mendeliome v1.4042 FAM83G Bryony Thompson Publications for gene: FAM83G were set to 29138053
Mendeliome v1.4041 FAM83G Bryony Thompson Classified gene: FAM83G as Green List (high evidence)
Mendeliome v1.4041 FAM83G Bryony Thompson Gene: fam83g has been classified as Green List (High Evidence).
Mendeliome v1.4040 FAM83G Bryony Thompson reviewed gene: FAM83G: Rating: GREEN; Mode of pathogenicity: None; Publications: 41384122, 39449644, 39043225, 29138053; Phenotypes: Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel Marked gene: PMM2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel Gene: pmm2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.96 Chirag Patel Copied gene PMM2 from panel Congenital Disorders of Glycosylation
Cerebellar and Pontocerebellar Hypoplasia v1.96 PMM2 Chirag Patel gene: PMM2 was added
gene: PMM2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 21541725
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Congenital Stationary Night Blindness v0.24 Bryony Thompson Copied gene EGFLAM from panel Mendeliome
Congenital Stationary Night Blindness v0.24 EGFLAM Bryony Thompson gene: EGFLAM was added
gene: EGFLAM was added to Congenital Stationary Night Blindness. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFLAM were set to 41343198; 18641643
Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related
Mendeliome v1.4040 EGFLAM Bryony Thompson Marked gene: EGFLAM as ready
Mendeliome v1.4040 EGFLAM Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4040 EGFLAM Bryony Thompson Classified gene: EGFLAM as Amber List (moderate evidence)
Mendeliome v1.4040 EGFLAM Bryony Thompson Gene: egflam has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4039 EGFLAM Bryony Thompson gene: EGFLAM was added
gene: EGFLAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFLAM were set to 41343198; 18641643
Phenotypes for gene: EGFLAM were set to Congenital stationary night blindness MONDO:0016293, EGFLAM-related
Review for gene: EGFLAM was set to AMBER
Added comment: PMID 41343198 reports two individuals from two unrelated Moroccan families with autosomal recessive loss-of-function truncating EGFLAM variants presenting with complete congenital stationary night blindness (cCSNB), characterised by childhood-onset night blindness, high myopia, reduced visual acuity, and an electronegative Schubert-Bornschein ERG pattern. The homozygous frameshift (p.Val522Glufs*18) and nonsense (p.Arg599*) variants cosegregated with disease.
PMID 18641643 Pikachurin null-mutant mice showed improper apposition of the bipolar cell dendritic tips to the photoreceptor ribbon synapses, resulting in alterations in synaptic signal transmission and visual function.
Sources: Literature
Growth failure v1.94 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Growth failure v1.94 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Growth failure v1.94 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.565 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092, CDK4-related
Microcephaly v1.393 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Microcephaly v1.393 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.393 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092
Microcephaly v1.392 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Microcephaly v1.392 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Microcephaly. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4038 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.564 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.564 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4037 CDK4 Zornitza Stark Classified gene: CDK4 as Green List (high evidence)
Mendeliome v1.4037 CDK4 Zornitza Stark Gene: cdk4 has been classified as Green List (High Evidence).
Growth failure v1.93 Zornitza Stark Copied gene CDK4 from panel Mendeliome
Growth failure v1.93 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Growth failure. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK4 were set to 40210435
Phenotypes for gene: CDK4 were set to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4036 Zornitza Stark Added reviews for gene CDK4 from panel Melanoma
Mendeliome v1.4035 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from {Melanoma, cutaneous malignant, 3} MIM#609048 to Neurodevelopmental disorder, MONDO:0700092; {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v1.4034 CDK4 Zornitza Stark Publications for gene: CDK4 were set to
Mendeliome v1.4033 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4032 CDK4 Zornitza Stark Classified gene: CDK4 as Amber List (moderate evidence)
Mendeliome v1.4032 CDK4 Zornitza Stark Gene: cdk4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4031 CDK4 Zornitza Stark reviewed gene: CDK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 40210435; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.303 ZFHX4 Zornitza Stark Marked gene: ZFHX4 as ready
Clefting disorders v0.303 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Clefting disorders v0.303 ZFHX4 Zornitza Stark Phenotypes for gene: ZFHX4 were changed from intellectual disability; short stature; cleft to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Clefting disorders v0.302 ZFHX4 Zornitza Stark Classified gene: ZFHX4 as Green List (high evidence)
Clefting disorders v0.302 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Growth failure v1.92 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Growth failure v1.92 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Microcephaly v1.391 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Microcephaly v1.391 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Mendeliome v1.4031 MAU2 Zornitza Stark Marked gene: MAU2 as ready
Mendeliome v1.4031 MAU2 Zornitza Stark Gene: mau2 has been classified as Green List (High Evidence).
Microcephaly v1.391 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Microcephaly v1.391 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Microcephaly. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Intellectual disability syndromic and non-syndromic v1.563 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.563 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Growth failure v1.92 Lucy Spencer Copied gene MAU2 from panel Mendeliome
Growth failure v1.92 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Growth failure. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Mendeliome v1.4031 MAU2 Lucy Spencer Classified gene: MAU2 as Green List (high evidence)
Mendeliome v1.4031 MAU2 Lucy Spencer Gene: mau2 has been classified as Green List (High Evidence).
Mendeliome v1.4030 MAU2 Lucy Spencer gene: MAU2 was added
gene: MAU2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 41332805; 37962004; 32433956
Phenotypes for gene: MAU2 were set to Cornelia de Lange syndrome MONDO:0016033, MAU2-related
Review for gene: MAU2 was set to GREEN
Added comment: PMID 41332805 report a total of 18 individuals from 15 unrelated families with heterozygous MAU2 variants causing Cornelia de Lange syndrome (1 of these patients was previously reported in PMID: 32433956). The main phenotypes in this cohort were short stature, microcephaly and ID, around half also had a mix of the characteristic CDLS facial features like synophrys, long smooth philtrum, thick eyebrows, thin upper lip vermilion and anteverted nares.

Variants include loss‑of‑function (nonsense, frameshift, splice‑affecting) that cause haploinsufficiency, and missense/in‑frame deletions some of which were shown to disrupt NIPBL‑MAU2 interaction. Most were de novo but several were transmitted from affected parents, and for 5 cases inheritance was unknown. All but one of the missense/inframe deletion variants is absent from gnomad v4, p.Cys50Ser is present with 6 heterozygotes and may not be pathogenic.

PMID: 37962004 has one additional patient with atypical Cornelia de Lange syndrome who has a de novo missense variant, absent from gnomad.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.69 Zornitza Stark Copied gene SMC1B from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.69 SMC1B Zornitza Stark gene: SMC1B was added
gene: SMC1B was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMC1B were set to 40180776; 27603904
Phenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related
Mendeliome v1.4029 SMC1B Zornitza Stark Marked gene: SMC1B as ready
Mendeliome v1.4029 SMC1B Zornitza Stark Gene: smc1b has been classified as Red List (Low Evidence).
Mendeliome v1.4029 SMC1B Zornitza Stark gene: SMC1B was added
gene: SMC1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMC1B were set to 40180776; 27603904
Phenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related
Review for gene: SMC1B was set to RED
Added comment: [PMID 27603904] reports 2 individuals from 2 families with heterozygous missense SMC1B variants (p.I221T, p.Q1177L) presenting with primary ovarian insufficiency. [PMID 40180776] reports 1 individual from 1 family with a heterozygous missense p.C619F variant causing severe necrozoospermia; the variant segregates from a carrier mother and functional assays show reduced SMC1B protein, indicating a loss‑of‑function mechanism. All three variants are present in the population, p.Q1177L at an implausibly high frequency.
Sources: Literature
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Marked gene: MDN1 as ready
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.336 Zornitza Stark Copied gene MDN1 from panel Mendeliome
Genetic Epilepsy v1.336 MDN1 Zornitza Stark gene: MDN1 was added
gene: MDN1 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDN1 were set to 40217384
Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related
Mendeliome v1.4028 MDN1 Zornitza Stark Marked gene: MDN1 as ready
Mendeliome v1.4028 MDN1 Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence).
Mendeliome v1.4028 MDN1 Zornitza Stark gene: MDN1 was added
gene: MDN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDN1 were set to 40217384
Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related
Review for gene: MDN1 was set to RED
Added comment: PMID 40217384 reports 5 individuals from 5 unrelated families with biallelic missense or splice-site variants in MDN1 presenting with childhood-onset epilepsy (febrile seizures, febrile seizures plus, and focal epilepsy secondary to brain injury). Variants are rare in gnomAD with no homs. No experimental functional validation was performed and assertions of pathogenicity rely on in-silico assessment, hence RED rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.562 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.561 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 40171858; 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type MIM@619345
Review for gene: TMEM251 was set to GREEN
Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.
Sources: Literature
Mendeliome v1.4027 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Steroid resistant nephrotic syndrome; Holoprosencephaly to Multiple congenital anomalies MONDO:0019042, PRDM15-related
Arthrogryposis v1.8 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready
Arthrogryposis v1.8 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.560 LMAN2L Lucy Spencer Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887
Mendeliome v1.4026 LMAN2L Lucy Spencer Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863 to Intellectual developmental disorder, autosomal dominant 69 MIM#617863; Intellectual developmental disorder, autosomal recessive 52 MIM#616887
Mendeliome v1.4025 LIPT1 Lucy Spencer Phenotypes for gene: LIPT1 were changed from Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation to Lipoyltransferase 1 deficiency, MIM#616299
Renal Tubulopathies and related disorders v1.24 LCAT Lucy Spencer Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120
Mendeliome v1.4024 LCAT Lucy Spencer Phenotypes for gene: LCAT were changed from Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120 to Norum disease MIM#245900; Fish-Eye disease, MIM# 136120
Genetic Epilepsy v1.335 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Cerebellar and Pontocerebellar Hypoplasia v1.95 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Congenital Disorders of Glycosylation v1.81 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Cataract v0.534 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Lissencephaly and Band Heterotopia v1.28 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Amelogenesis imperfecta v1.14 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Mendeliome v1.4023 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Epidermolysis bullosa v1.24 LAMC2 Lucy Spencer Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Epidermolysis bullosa, junctional 3A, intermediate MIM#619785; Epidermolysis bullosa, junctional 3B, severe MIM#619786
Amelogenesis imperfecta v1.13 LAMB3 Lucy Spencer Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Mendeliome v1.4022 LAMB3 Lucy Spencer Phenotypes for gene: LAMB3 were changed from Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Mendeliome v1.4021 LAMA2 Lucy Spencer Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 to LAMA2-related muscular dystrophy MONDO:0100228; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Mendeliome v1.4020 LAMA2 Lucy Spencer reviewed gene: LAMA2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2-related muscular dystrophy MONDO:0100228; Mode of inheritance: None
Arthrogryposis v1.8 Zornitza Stark Copied gene TMEM251 from panel Skeletal dysplasia
Arthrogryposis v1.8 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Arthrogryposis. Sources: Expert Review Green,Literature
new gene name tags were added to gene: TMEM251.
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156; 40171858
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345
Fetal anomalies v1.505 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Intellectual disability syndromic and non-syndromic v1.559 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Overgrowth v1.20 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Mendeliome v1.4020 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Autism v0.236 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Mendeliome v1.4019 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark Marked gene: TMEM251 as ready