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Mosaic skin disorders v0.1 MTOR Mathew Wallis reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27159400; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 MAP3K3 Mathew Wallis reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25728774; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 MAP2K1 Mathew Wallis reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29461977; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT10 Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT1 Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRAS Mathew Wallis reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: Linear sebaceous nevus syndrome (163200), Oculoectodermal syndrome (600268); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH2 Mathew Wallis reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: 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: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 HRAS Mathew Wallis reviewed gene: HRAS: 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: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: Epidermal nevus (162900), Linear sebaceous nevus syndrome (163200), Congenital melanocytic nevus (137550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA14 Mathew Wallis reviewed gene: GNA14: 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: PMID: 27476652; Phenotypes: tufted angiomas (TA), laposiform hemangioendotheliomas (KHE), lobular capillary hemangiomas (LCH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: 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: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAS Mathew Wallis reviewed gene: GNAS: 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: PMID: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAQ Mathew Wallis reviewed gene: GNAQ: 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: PMID: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA11 Mathew Wallis reviewed gene: GNA11: 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: PMID: 26778290; Phenotypes: Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis Deleted their comment
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis reviewed gene: FGFR3: 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: PMID: 16841094, PMID: 22499344; Phenotypes: Epidermal naevi (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis reviewed gene: FGFR1: 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: PMID: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: 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: PMID: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.128 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Optic Atrophy v0.128 SPG7 Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants are associated with spastic paraplegia.
Optic Atrophy v0.128 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.128 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to autosomal dominant optical atrophy
Optic Atrophy v0.127 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Optic Atrophy v0.126 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.0 CARD14 Zornitza Stark gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders. Sources: NHS GMS,Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Mosaic skin disorders v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 27519652
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195
Mosaic skin disorders v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to Mosaic case series shortly to be published by Kinsler group
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Mosaic skin disorders v0.0 PMVK Zornitza Stark gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders v0.0 MVD Zornitza Stark gene: MVD was added
gene: MVD was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IKBKG 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 gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300
Mosaic skin disorders v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders v0.0 ATP2A2 Zornitza Stark gene: ATP2A2 was added
gene: ATP2A2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 27423141
Phenotypes for gene: SPRED1 were set to Legius syndrome
Mosaic skin disorders v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMO were set to 27236920
Phenotypes for gene: SMO were set to Curry-Jones syndrome
Mosaic skin disorders v0.0 RHOA Zornitza Stark gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 30635911; 24038909
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome
Mosaic skin disorders v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 12471211; 10749983
Phenotypes for gene: PTEN were set to Epidermal naevi; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Melanoma
Mosaic skin disorders v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 22499344; 23100325; 22729224; 29446767
Phenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes
Mosaic skin disorders v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 22499344; 24006476; 10878667
Phenotypes for gene: NRAS were set to Noonan syndrome; Melanocytic naevi; Congenital melanocytic naevus syndrome
Mosaic skin disorders v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF2 were set to 29409008
Phenotypes for gene: NF2 were set to NF2; NEUROFIBROMATOSIS, TYPE II
Mosaic skin disorders v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 14605872; 17668375
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Mosaic skin disorders v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTOR were set to 27159400
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Mosaic skin disorders v0.0 MAP3K3 Zornitza Stark gene: MAP3K3 was added
gene: MAP3K3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K3 were set to 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous haemangiomas
Mosaic skin disorders v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 29461977
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Mosaic skin disorders v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT10 were set to 25495838; 29135017
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Pachyonychia congenita; Ichythosis with confetti; Palmoplantar keratoderma
Mosaic skin disorders v0.0 KRT1 Zornitza Stark gene: KRT1 was added
gene: KRT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT1 were set to 28532675; 17255957
Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma
Mosaic skin disorders v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 22499344; 22683711
Phenotypes for gene: KRAS were set to Epidermal naevi; Schimmelpenning syndrome
Mosaic skin disorders v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 22057234
Phenotypes for gene: IDH2 were set to Maffucci syndrome; Ollier disease
Mosaic skin disorders v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH1 were set to 22057234
Phenotypes for gene: IDH1 were set to Maffucci syndrome; Ollier disease
Mosaic skin disorders v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 22499344; 22683711; 24006476
Phenotypes for gene: HRAS were set to Phakomatosis pigmentokeratotica; Epidermal naevi; Woolly hair; Costello syndrome; Schimmelpenning syndrome
Mosaic skin disorders v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 12970318
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Mosaic skin disorders v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAQ were set to 26778290
Phenotypes for gene: GNAQ were set to Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis
Mosaic skin disorders v0.0 GNA14 Zornitza Stark gene: GNA14 was added
gene: GNA14 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA14 were set to 27476652
Phenotypes for gene: GNA14 were set to Kaposiform endothelioma; Tufted angioma
Mosaic skin disorders v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 26778290
Phenotypes for gene: GNA11 were set to Extensive dermal melanocytosis; Phakomatosis pigmentovascularis
Mosaic skin disorders v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 22499344; 16841094
Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum
Mosaic skin disorders v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 26942290
Phenotypes for gene: FGFR1 were set to Epidermal naevi
Mosaic skin disorders v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT1 were set to 33030203; 21793738
Phenotypes for gene: AKT1 were set to Proteus syndrome
Mosaic skin disorders v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 28347698
Mosaic skin disorders v0.0 Zornitza Stark Added panel Mosaic skin disorders
Optic Atrophy v0.125 SPG7 Teresa Zhao reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275; Phenotypes: autosomal dominant optical atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.102 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Joubert syndrome and other neurological ciliopathies v0.101 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Joubert syndrome and other neurological ciliopathies v0.100 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.99 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Classified gene: KAT6B as Amber List (moderate evidence)
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6397 SCUBE3 Zornitza Stark Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Mendeliome v0.6396 SCUBE3 Zornitza Stark edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies
Skeletal dysplasia v0.81 SCUBE3 Zornitza Stark Phenotypes for gene: SCUBE3 were changed from Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184; Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Skeletal dysplasia v0.80 SCUBE3 Zornitza Stark edited their review of gene: SCUBE3: Changed phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184, Short stature, skeletal abnormalities, craniofacial abnormalities, dental anomalies
Mendeliome v0.6396 UNC45B Zornitza Stark Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, MIM# 619178; Progressive Myopathy with Eccentric Cores
Mendeliome v0.6395 UNC45B Zornitza Stark reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myofibrillar myopathy 11, MIM# 619178; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.18 KAT6B Konstantinos Varvagiannis gene: KAT6B was added
gene: KAT6B was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6B were set to 32424177; 23236640
Phenotypes for gene: KAT6B were set to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Penetrance for gene: KAT6B were set to Complete
Review for gene: KAT6B was set to AMBER
Added comment: Zhang et al (2020 - PMID: 32424177) provide a review of the KAT6B-related phenotypes based on unpublished as well as previously reported patients. Grey matter heterotopia was observed in three individuals.

According to GeneReviews (PMID : 23236640) : Most GPS-associated pathogenic variants cluster in KAT6B exon 18, the last exon, and are predicted to produce truncated proteins associated with a gain-of-function mechanism. SBBYS-causing pathogenic variants also occur most frequently in exon 18, but more distally than the GPS-associated variants. Predicted loss-of-function variants in exons 3, 7, 11, and 14-17 were reported to be associated with the SBBYSS phenotype.

Please consider inclusion in the current panel with amber or green rating.
Sources: Literature
Early-onset Dementia v0.133 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN6 were set to 30561534
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300
Review for gene: CLN6 was set to GREEN
gene: CLN6 was marked as current diagnostic
Added comment: Dementia or cognitive decline was a feature of the condition in 15/20 cases from 13 unrelated families with Kufs type ceroid lipofuscinosis caused by biallelic CLN6 variants. In some cases, this was the initial presenting feature of the condition.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.99 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175
Joubert syndrome and other neurological ciliopathies v0.98 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Joubert syndrome and other neurological ciliopathies v0.97 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.96 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481, 32726168; Phenotypes: Joubert syndrome 34, MIM# 614175, Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.226 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Ciliopathies v0.226 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Ciliopathies v0.226 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Ciliopathies v0.225 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Ciliopathies v0.224 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.223 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.96 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Joubert syndrome and other neurological ciliopathies v0.95 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Joubert syndrome and other neurological ciliopathies v0.94 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.93 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.0 Zornitza Stark promoted panel to version 1.0
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.228 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Cerebellar and Pontocerebellar Hypoplasia v0.227 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.226 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.225 TUBB2B Zornitza Stark Classified gene: TUBB2B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.225 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.224 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 19465910; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.224 TSEN15 Zornitza Stark Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM# 617026
Cerebellar and Pontocerebellar Hypoplasia v0.223 TSEN15 Zornitza Stark Publications for gene: TSEN15 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.222 TSEN15 Zornitza Stark Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.221 TSEN15 Zornitza Stark changed review comment from: At least 3 unrelated families reported.; to: 3 unrelated families reported.
Cerebellar and Pontocerebellar Hypoplasia v0.221 TSEN15 Zornitza Stark reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM# 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.221 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603
Cerebellar and Pontocerebellar Hypoplasia v0.220 TUBA1A Zornitza Stark Classified gene: TUBA1A as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.220 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.219 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.219 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753
Cerebellar and Pontocerebellar Hypoplasia v0.218 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.217 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.216 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711368, 20956791, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2A, MIM# 277470, Pontocerebellar hypoplasia type 4, MIM# 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6395 SHROOM3 Zornitza Stark Marked gene: SHROOM3 as ready
Mendeliome v0.6395 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6395 SHROOM3 Zornitza Stark Classified gene: SHROOM3 as Amber List (moderate evidence)
Mendeliome v0.6395 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6394 SHROOM3 Zornitza Stark gene: SHROOM3 was added
gene: SHROOM3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHROOM3 were set to 32621286
Phenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate
Review for gene: SHROOM3 was set to AMBER
Added comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P.
Sources: Expert Review
Clefting disorders v0.102 SHROOM3 Zornitza Stark Marked gene: SHROOM3 as ready
Clefting disorders v0.102 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.102 SHROOM3 Zornitza Stark Classified gene: SHROOM3 as Amber List (moderate evidence)
Clefting disorders v0.102 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.101 SHROOM3 Zornitza Stark gene: SHROOM3 was added
gene: SHROOM3 was added to Clefting disorders. Sources: Expert Review
Mode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHROOM3 were set to 32621286
Phenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate
Review for gene: SHROOM3 was set to AMBER
Added comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P.
Sources: Expert Review
Mendeliome v0.6393 FLT3 Zornitza Stark Marked gene: FLT3 as ready
Mendeliome v0.6393 FLT3 Zornitza Stark Gene: flt3 has been classified as Red List (Low Evidence).
Mendeliome v0.6393 FLT3 Zornitza Stark Classified gene: FLT3 as Red List (low evidence)
Mendeliome v0.6393 FLT3 Zornitza Stark Gene: flt3 has been classified as Red List (Low Evidence).
Mendeliome v0.6392 FLT3 Zornitza Stark reviewed gene: FLT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3455 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Intellectual disability syndromic and non-syndromic v0.3455 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3455 MSL3 Zornitza Stark Phenotypes for gene: MSL3 were changed from to Basilicata-Akhtar syndrome, OMIM # 301032
Intellectual disability syndromic and non-syndromic v0.3454 MSL3 Zornitza Stark Publications for gene: MSL3 were set to
Intellectual disability syndromic and non-syndromic v0.3453 MSL3 Zornitza Stark Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3452 MSL3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.3452 MSL3 Zornitza Stark commented on gene: MSL3: Well established ID gene. 2021 paper documents findings in 25 individuals. Variants found to be clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding.
Intellectual disability syndromic and non-syndromic v0.3452 MSL3 Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6392 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Mendeliome v0.6392 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Mendeliome v0.6392 MSL3 Zornitza Stark Phenotypes for gene: MSL3 were changed from to Basilicata-Akhtar syndrome, OMIM # 301032
Mendeliome v0.6391 MSL3 Zornitza Stark Publications for gene: MSL3 were set to
Mendeliome v0.6390 MSL3 Zornitza Stark Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6389 MSL3 Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebellar and Pontocerebellar Hypoplasia v0.216 MSL3 Zornitza Stark Publications for gene: MSL3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark Marked gene: MSL3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 MSL3 Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.215 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3452 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Intellectual disability syndromic and non-syndromic v0.3452 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3452 TOE1 Zornitza Stark Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Intellectual disability syndromic and non-syndromic v0.3451 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Intellectual disability syndromic and non-syndromic v0.3450 TOE1 Zornitza Stark Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3449 TOE1 Zornitza Stark reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6389 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Mendeliome v0.6389 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Mendeliome v0.6389 TOE1 Zornitza Stark Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Mendeliome v0.6388 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Mendeliome v0.6387 TOE1 Zornitza Stark Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6386 TOE1 Zornitza Stark reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.215 TOE1 Zornitza Stark Phenotypes for gene: TOE1 were changed from to Pontocerebellar hypoplasia, type 7, MIM# 614969
Cerebellar and Pontocerebellar Hypoplasia v0.214 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.213 TOE1 Zornitza Stark Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.212 TOE1 Zornitza Stark reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.212 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Cerebellar and Pontocerebellar Hypoplasia v0.211 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.210 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.210 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, MIM# 615851
Cerebellar and Pontocerebellar Hypoplasia v0.209 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.208 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Cerebellar and Pontocerebellar Hypoplasia v0.207 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM# 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Mendeliome v0.6386 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Mendeliome v0.6386 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Mendeliome v0.6386 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596; SMA
Mendeliome v0.6385 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Mendeliome v0.6384 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6383 VRK1 Zornitza Stark edited their review of gene: VRK1: Changed rating: GREEN; Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, SMA
Cerebellar and Pontocerebellar Hypoplasia v0.207 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596
Cerebellar and Pontocerebellar Hypoplasia v0.206 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.205 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.204 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6383 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Mendeliome v0.6383 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Mendeliome v0.6383 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Mendeliome v0.6382 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Mendeliome v0.6381 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.204 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
Cerebellar and Pontocerebellar Hypoplasia v0.203 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.202 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.201 SPTBN2 Zornitza Stark reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 33318253; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6380 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Mendeliome v0.6380 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Mendeliome v0.6380 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment
Mendeliome v0.6379 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Mendeliome v0.6378 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6377 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.201 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811
Cerebellar and Pontocerebellar Hypoplasia v0.200 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Cerebellar and Pontocerebellar Hypoplasia v0.199 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.198 SEPSECS Zornitza Stark reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Marked gene: RELN as ready
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.198 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Cerebellar and Pontocerebellar Hypoplasia v0.197 RELN Zornitza Stark Publications for gene: RELN were set to
Cerebellar and Pontocerebellar Hypoplasia v0.196 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.195 RELN Zornitza Stark Classified gene: RELN as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.195 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.194 RELN Zornitza Stark reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: 27000652; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.194 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Cerebellar and Pontocerebellar Hypoplasia v0.193 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.192 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.191 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Marked gene: KCNC3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.191 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM# 605259
Cerebellar and Pontocerebellar Hypoplasia v0.190 KCNC3 Zornitza Stark Publications for gene: KCNC3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.189 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.188 KCNC3 Zornitza Stark Classified gene: KCNC3 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.188 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.187 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6377 ITPR1 Zornitza Stark changed review comment from: Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.; to: Gillespie syndrome: usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.
Mendeliome v0.6377 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Mendeliome v0.6377 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Mendeliome v0.6377 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700; Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Mendeliome v0.6376 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Mendeliome v0.6375 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6374 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.187 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700
Cerebellar and Pontocerebellar Hypoplasia v0.186 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.185 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.184 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6374 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Mendeliome v0.6374 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Mendeliome v0.6374 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Mendeliome v0.6373 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Mendeliome v0.6372 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6371 EXOSC8 Zornitza Stark Tag founder tag was added to gene: EXOSC8.
Mendeliome v0.6371 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Tag founder tag was added to gene: EXOSC8.
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Marked gene: EXOSC8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.184 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM# 616081
Cerebellar and Pontocerebellar Hypoplasia v0.183 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.182 EXOSC8 Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6371 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mendeliome v0.6371 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Mendeliome v0.6371 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Mendeliome v0.6370 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Mendeliome v0.6369 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6368 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.181 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Cerebellar and Pontocerebellar Hypoplasia v0.180 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.179 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.178 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3449 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Intellectual disability syndromic and non-syndromic v0.3449 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3449 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia type 10, MIM# 615803
Intellectual disability syndromic and non-syndromic v0.3448 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Intellectual disability syndromic and non-syndromic v0.3447 CLP1 Zornitza Stark Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3446 CLP1 Zornitza Stark Tag founder tag was added to gene: CLP1.
Intellectual disability syndromic and non-syndromic v0.3446 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6368 CLP1 Zornitza Stark Tag founder tag was added to gene: CLP1.
Mendeliome v0.6368 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Mendeliome v0.6368 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Mendeliome v0.6368 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia type 10, MIM# 615803
Mendeliome v0.6367 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Mendeliome v0.6366 CLP1 Zornitza Stark Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6365 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark edited their review of gene: CLP1: Changed publications: 24766809, 29307788
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark edited their review of gene: CLP1: Changed publications: 29307788
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.178 CLP1 Zornitza Stark Publications for gene: CLP1 were set to 24766809
Cerebellar and Pontocerebellar Hypoplasia v0.177 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia, type 10, MIM# 615803
Cerebellar and Pontocerebellar Hypoplasia v0.176 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.175 CLP1 Zornitza Stark Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.174 CLP1 Zornitza Stark Tag founder tag was added to gene: CLP1.
Cerebellar and Pontocerebellar Hypoplasia v0.174 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809; Phenotypes: Pontocerebellar hypoplasia, type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3446 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Intellectual disability syndromic and non-syndromic v0.3446 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3446 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Intellectual disability syndromic and non-syndromic v0.3445 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Intellectual disability syndromic and non-syndromic v0.3444 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3443 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.240 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Regression v0.240 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Regression v0.240 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Regression v0.239 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Regression v0.238 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.237 CHMP1A Zornitza Stark Classified gene: CHMP1A as Red List (low evidence)
Regression v0.237 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Regression v0.236 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6365 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Mendeliome v0.6365 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Mendeliome v0.6365 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Mendeliome v0.6364 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Mendeliome v0.6363 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6362 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.174 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Cerebellar and Pontocerebellar Hypoplasia v0.173 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Cerebellar and Pontocerebellar Hypoplasia v0.172 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.171 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Marked gene: CASK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.171 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Cerebellar and Pontocerebellar Hypoplasia v0.170 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.169 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.3443 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Intellectual disability syndromic and non-syndromic v0.3443 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3443 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Intellectual disability syndromic and non-syndromic v0.3442 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Intellectual disability syndromic and non-syndromic v0.3441 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3440 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6362 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Mendeliome v0.6362 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Mendeliome v0.6362 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Mendeliome v0.6361 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Mendeliome v0.6360 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6359 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.169 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202
Cerebellar and Pontocerebellar Hypoplasia v0.168 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.167 BRF1 Zornitza Stark Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.166 BRF1 Zornitza Stark reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.100 DHODH Zornitza Stark Marked gene: DHODH as ready
Clefting disorders v0.100 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Clefting disorders v0.100 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS to Miller syndrome, MIM# 263750
Clefting disorders v0.99 DHODH Zornitza Stark Publications for gene: DHODH were set to
Clefting disorders v0.98 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Marked gene: DHODH as ready
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.24 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750
Pierre Robin Sequence v0.23 DHODH Zornitza Stark Publications for gene: DHODH were set to
Pierre Robin Sequence v0.22 DHODH Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.21 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6359 DHODH Zornitza Stark Marked gene: DHODH as ready
Mendeliome v0.6359 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Mendeliome v0.6359 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750
Mendeliome v0.6358 DHODH Zornitza Stark Publications for gene: DHODH were set to
Mendeliome v0.6357 DHODH Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6356 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.23 DHODH Zornitza Stark Marked gene: DHODH as ready
Mandibulofacial Acrofacial dysostosis v0.23 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.23 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750
Mandibulofacial Acrofacial dysostosis v0.22 DHODH Zornitza Stark Publications for gene: DHODH were set to
Mandibulofacial Acrofacial dysostosis v0.21 DHODH Zornitza Stark Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.20 DHODH Zornitza Stark reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.31 AGL Zornitza Stark Marked gene: AGL as ready
Glycogen Storage Diseases v0.31 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.31 AGL Zornitza Stark Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM# 232400
Glycogen Storage Diseases v0.30 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.29 AGL Zornitza Stark reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6356 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Mendeliome v0.6356 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Mendeliome v0.6356 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Mendeliome v0.6355 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Mendeliome v0.6354 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6353 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.87 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Epidermolysis bullosa v0.86 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Epidermolysis bullosa v0.85 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.84 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6353 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Mendeliome v0.6353 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Mendeliome v0.6353 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
Mendeliome v0.6352 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Mendeliome v0.6351 LAMA3 Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6350 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.84 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
Epidermolysis bullosa v0.83 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Epidermolysis bullosa v0.82 LAMA3 Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.81 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6350 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Mendeliome v0.6350 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Mendeliome v0.6350 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Mendeliome v0.6349 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Mendeliome v0.6348 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6347 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.81 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Epidermolysis bullosa v0.80 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Epidermolysis bullosa v0.79 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.78 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6347 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Mendeliome v0.6347 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Mendeliome v0.6347 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Mendeliome v0.6346 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Mendeliome v0.6345 LAMC2 Zornitza Stark Mode of inheritance for gene: LAMC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6344 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11810295, 25888738, 24533970; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.78 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Epidermolysis bullosa v0.77 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Epidermolysis bullosa v0.76 LAMC2 Zornitza Stark Mode of inheritance for gene: LAMC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.75 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11810295, 25888738, 24533970; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6344 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Mendeliome v0.6344 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Mendeliome v0.6344 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from to 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 v0.6343 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6342 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.75 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from to 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
Epidermolysis bullosa v0.74 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.73 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Marked gene: KLHL24 as ready
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.73 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294
Epidermolysis bullosa v0.72 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to
Epidermolysis bullosa v0.71 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.70 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889062, 27798626; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3440 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from Developmental delay; neurodegeneration to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173; Developmental delay; neurodegeneration
Intellectual disability syndromic and non-syndromic v0.3439 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173, Developmental delay, neurodegeneration
Mendeliome v0.6342 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from Benign partial epilepsy; febrile seizures; NCL to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173; Neurodegeneration; Benign partial epilepsy; febrile seizures; NCL
Mendeliome v0.6341 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136
Mendeliome v0.6340 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed phenotypes: Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173, Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.70 PKP1 Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
Epidermolysis bullosa v0.69 PKP1 Zornitza Stark Publications for gene: PKP1 were set to
Epidermolysis bullosa v0.68 PKP1 Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.67 PKP1 Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6340 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Mendeliome v0.6340 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Mendeliome v0.6340 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730
Mendeliome v0.6339 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Mendeliome v0.6338 ITGA6 Zornitza Stark Mode of inheritance for gene: ITGA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6337 ITGA6 Zornitza Stark reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.67 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730
Epidermolysis bullosa v0.66 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Epidermolysis bullosa v0.65 ITGA6 Zornitza Stark Mode of inheritance for gene: ITGA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.64 ITGA6 Zornitza Stark reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.54 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Review for gene: ITGA3 was set to GREEN
Added comment: This is a neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease. More than 5 unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.53 Zornitza Stark removed gene:ITGA3 from the panel
Mackenzie's Mission_Reproductive Carrier Screening v0.52 ITGA3 Zornitza Stark Classified gene: ITGA3 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.52 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.51 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Review for gene: ITGA3 was set to GREEN
Added comment: This is a severe neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease.

More than 5 unrelated families reported.
Sources: Expert Review
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Classified gene: ITGA3 as Green List (high evidence)
Additional findings_Paediatric v0.196 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.195 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Pulmonary Fibrosis_Interstitial Lung Disease v0.20 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.19 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.155 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Proteinuria v0.155 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Proteinuria v0.155 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Proteinuria v0.154 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Proteinuria v0.153 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.152 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6337 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Mendeliome v0.6337 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Mendeliome v0.6337 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Mendeliome v0.6336 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Mendeliome v0.6335 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6334 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.64 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Epidermolysis bullosa v0.63 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Epidermolysis bullosa v0.62 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.61 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6334 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Mendeliome v0.6334 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Green List (High Evidence).
Mendeliome v0.6334 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Mendeliome v0.6333 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Mendeliome v0.6332 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6331 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.61 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Epidermolysis bullosa v0.60 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Epidermolysis bullosa v0.59 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.58 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12789646; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Marked gene: EXPH5 as ready
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Gene: exph5 has been classified as Green List (High Evidence).
Mendeliome v0.6331 EXPH5 Zornitza Stark Marked gene: EXPH5 as ready
Mendeliome v0.6331 EXPH5 Zornitza Stark Gene: exph5 has been classified as Green List (High Evidence).
Mendeliome v0.6331 EXPH5 Zornitza Stark Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Mendeliome v0.6330 EXPH5 Zornitza Stark Publications for gene: EXPH5 were set to
Mendeliome v0.6329 EXPH5 Zornitza Stark Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.58 EXPH5 Zornitza Stark Phenotypes for gene: EXPH5 were changed from to Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Mendeliome v0.6328 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.57 EXPH5 Zornitza Stark Publications for gene: EXPH5 were set to
Epidermolysis bullosa v0.56 EXPH5 Zornitza Stark Mode of inheritance for gene: EXPH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.55 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176819, 32176379, 27730671, 27384765; Phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.55 DST Zornitza Stark Marked gene: DST as ready
Epidermolysis bullosa v0.55 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.55 DST Zornitza Stark Phenotypes for gene: DST were changed from to Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425
Epidermolysis bullosa v0.54 DST Zornitza Stark Publications for gene: DST were set to
Epidermolysis bullosa v0.53 DST Zornitza Stark Mode of inheritance for gene: DST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.52 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20164846, 22113475, 33471381; Phenotypes: Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Marked gene: PLEC as ready
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.52 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from to Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type, MIM# 131950
Epidermolysis bullosa v0.51 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.50 PLEC Zornitza Stark reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type, MIM# 131950; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.50 DSP Zornitza Stark Marked gene: DSP as ready
Epidermolysis bullosa v0.50 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.50 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Epidermolysis bullosa v0.49 DSP Zornitza Stark Publications for gene: DSP were set to
Epidermolysis bullosa v0.48 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.47 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16175511, 20302578, 20302578, 28442525, 20613772, 20302578; Phenotypes: Epidermolysis bullosa, lethal acantholytic, MIM# 609638; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6328 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Mendeliome v0.6328 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Mendeliome v0.6328 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Mendeliome v0.6327 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Mendeliome v0.6326 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.47 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Epidermolysis bullosa v0.46 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.45 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.11 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Pituitary hormone deficiency v0.10 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
Pituitary hormone deficiency v0.9 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6326 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Mendeliome v0.6326 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Mendeliome v0.6326 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Mendeliome v0.6325 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to
Mendeliome v0.6324 IGSF1 Zornitza Stark Mode of inheritance for gene: IGSF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6323 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.31 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Congenital hypothyroidism v0.30 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598
Congenital hypothyroidism v0.29 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23143598, 27310681, 30086211; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.29 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230
Congenital hypothyroidism v0.28 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Chromosome Breakage Disorders v0.42 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Chromosome Breakage Disorders v0.41 DDB2 Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.40 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: None
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anemia, complementation group J, MIM# 609054
Chromosome Breakage Disorders v0.39 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.38 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anemia, complementation group D1, MIM# 605724
Chromosome Breakage Disorders v0.37 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.36 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Marked gene: BLM as ready
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Chromosome Breakage Disorders v0.35 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.34 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Marked gene: ATM as ready
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM# 208900
Chromosome Breakage Disorders v0.33 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.32 ATM Zornitza Stark reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6323 FSTL5 Zornitza Stark Marked gene: FSTL5 as ready
Mendeliome v0.6323 FSTL5 Zornitza Stark Gene: fstl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6323 FSTL5 Zornitza Stark Classified gene: FSTL5 as Red List (low evidence)
Mendeliome v0.6323 FSTL5 Zornitza Stark Gene: fstl5 has been classified as Red List (Low Evidence).
Mendeliome v0.6322 NCOA3 Zornitza Stark Marked gene: NCOA3 as ready
Mendeliome v0.6322 NCOA3 Zornitza Stark Gene: ncoa3 has been classified as Red List (Low Evidence).
Mendeliome v0.6322 NCOA3 Zornitza Stark Classified gene: NCOA3 as Red List (low evidence)
Mendeliome v0.6322 NCOA3 Zornitza Stark Gene: ncoa3 has been classified as Red List (Low Evidence).
Combined Immunodeficiency v0.174 FCHO1 Zornitza Stark Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Combined Immunodeficiency v0.173 FCHO1 Zornitza Stark edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis
Mendeliome v0.6321 FCHO1 Zornitza Stark Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Mendeliome v0.6320 FCHO1 Zornitza Stark edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis
Mendeliome v0.6320 FSTL5 Eleanor Williams gene: FSTL5 was added
gene: FSTL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FSTL5 was set to Unknown
Publications for gene: FSTL5 were set to 33105483
Phenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus
Review for gene: FSTL5 was set to RED
Added comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice.
Sources: Literature
Mendeliome v0.6320 NCOA3 Eleanor Williams gene: NCOA3 was added
gene: NCOA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCOA3 were set to 33326993
Phenotypes for gene: NCOA3 were set to non-syndromic hearing loss
Review for gene: NCOA3 was set to RED
Added comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity.
Sources: Literature
Mendeliome v0.6320 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Mendeliome v0.6320 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence).
Mendeliome v0.6320 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6319 CFHR3 Zornitza Stark Publications for gene: CFHR3 were set to
Mendeliome v0.6318 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6317 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Mendeliome v0.6317 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence).
Mendeliome v0.6317 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Mendeliome v0.6316 CFHR1 Zornitza Stark Publications for gene: CFHR1 were set to
Mendeliome v0.6315 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 CFHR3 Zornitza Stark Marked gene: CFHR3 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 CFHR3 Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 CFHR3 Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Atypical Haemolytic Uraemic Syndrome_MPGN v0.37 CFHR3 Zornitza Stark Publications for gene: CFHR3 were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.36 CFHR3 Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 CFHR3 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR3.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 CFHR3 Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 CFHR1 Zornitza Stark Marked gene: CFHR1 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 CFHR1 Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 CFHR1 Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 CFHR1 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR1.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 CFHR1 Zornitza Stark Publications for gene: CFHR1 were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.33 CFHR1 Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CFHR1 Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.1 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to
Mendeliome v0.6314 CFHR3 Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6314 CFHR1 Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CFHR3 Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CFHR1 Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.0 SMAD9 Elena Savva edited their review of gene: SMAD9: Added comment: Alt gene name SMAD8
gnomAD: pLI = 0. Most frequent NMD-pred PTC has 6 hets in the population, currently a VUS in ClinVar.

PMID: 29844917 - NMD PTC in a 14 year old patient with brain arteriovenous malformation, resulted in reduced phosphorylation of downstream SMAD4. Zebrafish knockdown model showed abnormal cerebral artery-to-vein connection.

PMID: 21920918 - NMD PTC in a patient with heritable pulmonary arterial hypertension. Functional studies on patient cells showed no significant effect in inducing miR-21, miR-27a or miR-100. ID1 (no OMIM) expression was significantly increased.

PMID: 19211612 - NMD PTC in a patient, paternally inherited (also affected with pulmonary arterial hypertension). Functional studies show the protein could not interact with SMAD4, and reduced transcriptional activation activity.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v1.0 SMAD9 Elena Savva reviewed gene: SMAD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29844917, 21920918, 19211612; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: None
Pierre Robin Sequence v0.21 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia
Pierre Robin Sequence v0.20 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Pierre Robin Sequence v0.19 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.18 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: None
Clefting disorders v0.98 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1 to Frontonasal dysplasia 1, MIM# 136760; Frontorhiny
Clefting disorders v0.97 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 1, MIM# 136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.97 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from ?Frontonasal dysplasia 3, 613456 to Frontonasal dysplasia 3, MIM#613456; severe facial clefting
Clefting disorders v0.96 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 3, MIM# 613456; Mode of inheritance: None
Clefting disorders v0.96 USP9X Zornitza Stark Marked gene: USP9X as ready
Clefting disorders v0.96 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Marked gene: ALX4 as ready
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Classified gene: ALX4 as Amber List (moderate evidence)
Pierre Robin Sequence v0.18 ALX4 Tiong Tan Gene: alx4 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.17 ALX4 Tiong Tan reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24668755, 22140057, 19692347; Phenotypes: FRONTONASAL DYSPLASIA 2, FND2 with alopecia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence)
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Classified gene: ALX3 as Amber List (moderate evidence)
Pierre Robin Sequence v0.17 ALX3 Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence).
Pierre Robin Sequence v0.16 ALX3 Tiong Tan Marked gene: ALX3 as ready
Pierre Robin Sequence v0.16 ALX3 Tiong Tan Gene: alx3 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.16 ALX3 Tiong Tan reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: frontorhiny; Mode of inheritance: None
Clefting disorders v0.96 ALX1 Tiong Tan Classified gene: ALX1 as Green List (high evidence)
Clefting disorders v0.96 ALX1 Tiong Tan Added comment: Comment on list classification: Mediocre reviewer
Clefting disorders v0.96 ALX1 Tiong Tan Gene: alx1 has been classified as Green List (High Evidence).
Clefting disorders v0.95 ALX3 Tiong Tan Marked gene: ALX3 as ready
Clefting disorders v0.95 ALX3 Tiong Tan Gene: alx3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.95 ALX3 Tiong Tan reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524, 29215096, 31914496; Phenotypes: Frontorhiny; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.95 ALX1 Tiong Tan Marked gene: ALX1 as ready
Clefting disorders v0.95 ALX1 Tiong Tan Gene: alx1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.95 ALX1 Tiong Tan reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31914496, 20451171, 24592072; Phenotypes: Frontonasal dysplasia, severe facial clefting; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.95 USP9X Tiong Tan reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833328; Phenotypes: 300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.6314 OTUD5 Zornitza Stark Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Mendeliome v0.6313 OTUD5 Zornitza Stark Publications for gene: OTUD5 were set to 33131077
Mendeliome v0.6312 OTUD5 Zornitza Stark Classified gene: OTUD5 as Green List (high evidence)
Mendeliome v0.6312 OTUD5 Zornitza Stark Gene: otud5 has been classified as Green List (High Evidence).
Mendeliome v0.6311 OTUD5 Zornitza Stark edited their review of gene: OTUD5: Added comment: PMID 33523931: Another 10 individuals from 7 families reported, promote to Green. X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.; Changed rating: GREEN; Changed publications: 33131077, 33523931; Changed phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Intellectual disability syndromic and non-syndromic v0.3439 OTUD5 Zornitza Stark Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
Intellectual disability syndromic and non-syndromic v0.3438 OTUD5 Zornitza Stark Publications for gene: OTUD5 were set to PMID: 33131077
Intellectual disability syndromic and non-syndromic v0.3437 OTUD5 Zornitza Stark Classified gene: OTUD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3437 OTUD5 Zornitza Stark Gene: otud5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3436 OTUD5 Zornitza Stark reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33523931; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6311 SCARB1 Bryony Thompson Marked gene: SCARB1 as ready
Mendeliome v0.6311 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6311 SCARB1 Bryony Thompson Phenotypes for gene: SCARB1 were changed from to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias
Mendeliome v0.6310 SCARB1 Bryony Thompson Publications for gene: SCARB1 were set to
Mendeliome v0.6309 SCARB1 Bryony Thompson Mode of inheritance for gene: SCARB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6308 SCARB1 Bryony Thompson Classified gene: SCARB1 as Amber List (moderate evidence)
Mendeliome v0.6308 SCARB1 Bryony Thompson Added comment: Comment on list classification: Benign clinical phenotype
Mendeliome v0.6308 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6307 SCARB1 Bryony Thompson reviewed gene: SCARB1: Rating: ; Mode of pathogenicity: None; Publications: 21226579, 30720493, 21480869, 26965621, 27604308; Phenotypes: High density lipoprotein cholesterol level QTL6 MIM#610762, Scavenger receptor class B type I deficiency, Inherited hypolipidaemias; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6307 CETP Bryony Thompson Marked gene: CETP as ready
Mendeliome v0.6307 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6307 CETP Bryony Thompson Phenotypes for gene: CETP were changed from to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism
Mendeliome v0.6306 CETP Bryony Thompson Publications for gene: CETP were set to
Mendeliome v0.6305 CETP Bryony Thompson Mode of inheritance for gene: CETP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6304 CETP Bryony Thompson Classified gene: CETP as Amber List (moderate evidence)
Mendeliome v0.6304 CETP Bryony Thompson Added comment: Comment on list classification: Benign metabolic condition
Mendeliome v0.6304 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6303 CETP Bryony Thompson reviewed gene: CETP: Rating: ; Mode of pathogenicity: None; Publications: 12070157, 2586614, 27604308, 2215607, 2390095; Phenotypes: Hyperalphalipoproteinemia MIM#143470, Disorders of high density lipoprotein metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6303 DMGDH Bryony Thompson Mode of inheritance for gene: DMGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6302 DMGDH Bryony Thompson Classified gene: DMGDH as Amber List (moderate evidence)
Mendeliome v0.6302 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6301 DMGDH Bryony Thompson edited their review of gene: DMGDH: Changed rating: AMBER
Mendeliome v0.6301 DMGDH Bryony Thompson reviewed gene: DMGDH: Rating: ; Mode of pathogenicity: None; Publications: 11231903, 18937046, 28881522, 27604308; Phenotypes: Dimethylglycine dehydrogenase deficiency MIM#605850, Disorders and variants of other enzymes that oxidise xenobiotics; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6301 CD320 Bryony Thompson Marked gene: CD320 as ready
Mendeliome v0.6301 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6301 CD320 Bryony Thompson Phenotypes for gene: CD320 were changed from to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.6300 CD320 Bryony Thompson Publications for gene: CD320 were set to
Mendeliome v0.6299 CD320 Bryony Thompson Classified gene: CD320 as Amber List (moderate evidence)
Mendeliome v0.6299 CD320 Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Mendeliome v0.6299 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6298 CD320 Bryony Thompson reviewed gene: CD320: Rating: ; Mode of pathogenicity: None; Publications: 29663633, 27604308, 30303736; Phenotypes: Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metabolic Disorders Superpanel v2.1 Bryony Thompson Panel status changed from internal to public
Miscellaneous Metabolic Disorders v1.0 Bryony Thompson promoted panel to version 1.0
Miscellaneous Metabolic Disorders v0.343 Bryony Thompson removed gene:ADAR from the panel
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson Marked gene: SLC27A5 as ready
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson Gene: slc27a5 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson gene: SLC27A5 was added
gene: SLC27A5 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A5 were set to 22089923; 27604308
Phenotypes for gene: SLC27A5 were set to Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis
Review for gene: SLC27A5 was set to RED
Added comment: 2 siblings with a bile acid phenotype in a single consanguineous family with a homozygous variant.
Sources: Literature
Mendeliome v0.6298 SHPK Bryony Thompson Marked gene: SHPK as ready
Mendeliome v0.6298 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6298 SHPK Bryony Thompson Classified gene: SHPK as Amber List (moderate evidence)
Mendeliome v0.6298 SHPK Bryony Thompson Added comment: Comment on list classification: Likely benign disorder
Mendeliome v0.6298 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6297 SHPK Bryony Thompson gene: SHPK was added
gene: SHPK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 25647543; 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213
Review for gene: SHPK was set to AMBER
Added comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder.
Sources: Literature
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Classified gene: SHPK as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Added comment: Comment on list classification: Likely benign disorder
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.340 SHPK Bryony Thompson gene: SHPK was added
gene: SHPK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 25647543; 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213
Review for gene: SHPK was set to AMBER
Added comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder.
Sources: Literature
Mendeliome v0.6296 PNLIP Bryony Thompson Marked gene: PNLIP as ready
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6296 PNLIP Bryony Thompson Classified gene: PNLIP as Amber List (moderate evidence)
Mendeliome v0.6296 PNLIP Bryony Thompson Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition
Mendeliome v0.6296 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6295 PNLIP Bryony Thompson gene: PNLIP was added
gene: PNLIP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308
Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism
Review for gene: PNLIP was set to GREEN
Added comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.
Sources: Literature
Dyslipidaemia v0.20 PNLIP Bryony Thompson Marked gene: PNLIP as ready
Dyslipidaemia v0.20 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.20 PNLIP Bryony Thompson Classified gene: PNLIP as Amber List (moderate evidence)
Dyslipidaemia v0.20 PNLIP Bryony Thompson Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition
Dyslipidaemia v0.20 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.19 PNLIP Bryony Thompson gene: PNLIP was added
gene: PNLIP was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308
Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism
Review for gene: PNLIP was set to GREEN
Added comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.
Sources: Literature
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Marked gene: PDXK as ready
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.338 PDXK Bryony Thompson Classified gene: PDXK as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.338 PDXK Bryony Thompson Gene: pdxk has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.337 PDXK Bryony Thompson gene: PDXK was added
gene: PDXK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 32522499; 31187503; 27604308
Phenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511; Disorders of pyridoxine metabolism
Review for gene: PDXK was set to GREEN
Added comment: 6 individuals from 3 unrelated families with biallelic variants, and supporting cellular and biochemical assays.
Sources: Literature
Mendeliome v0.6294 TDO2 Zornitza Stark Marked gene: TDO2 as ready
Mendeliome v0.6294 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
Mendeliome v0.6294 TDO2 Zornitza Stark gene: TDO2 was added
gene: TDO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDO2 were set to 28285122; 27604308
Phenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: TDO2 was set to RED
Added comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences
Sources: Expert list
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Marked gene: DMGDH as ready
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Classified gene: DMGDH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.335 DMGDH Bryony Thompson gene: DMGDH was added
gene: DMGDH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMGDH were set to 11231903; 18937046; 28881522; 27604308
Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics
Review for gene: DMGDH was set to AMBER
Added comment: Apparently only 2 cases with biallelic variants reported, and in vitro functional analyses the originally reported variant (H109R)
Sources: Literature
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Marked gene: SCARB1 as ready
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Classified gene: SCARB1 as Amber List (moderate evidence)
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Added comment: Comment on list classification: Benign clinical phenotype
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.17 SCARB1 Bryony Thompson gene: SCARB1 was added
gene: SCARB1 was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCARB1 were set to 21226579; 30720493; 21480869; 26965621; 27604308
Phenotypes for gene: SCARB1 were set to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias
Review for gene: SCARB1 was set to GREEN
Added comment: Monallelic and biallelic carriers have increased HDL cholesterol levels, but no other clinical phenotype.
Sources: Literature
Miscellaneous Metabolic Disorders v0.334 Bryony Thompson removed gene:MTTP from the panel
Dyslipidaemia v0.16 MTTP Bryony Thompson Marked gene: MTTP as ready
Dyslipidaemia v0.16 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Dyslipidaemia v0.16 MTTP Bryony Thompson Classified gene: MTTP as Green List (high evidence)
Dyslipidaemia v0.16 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Dyslipidaemia v0.15 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Dyslipidaemia. Sources: NHS GMS
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308; 8533758; 30720493
Phenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias
Review for gene: MTTP was set to GREEN
gene: MTTP was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism.
Sources: NHS GMS
Dyslipidaemia v0.14 LCAT Bryony Thompson Marked gene: LCAT as ready
Dyslipidaemia v0.14 LCAT Bryony Thompson Gene: lcat has been classified as Green List (High Evidence).
Dyslipidaemia v0.14 LCAT Bryony Thompson Classified gene: LCAT as Green List (high evidence)
Dyslipidaemia v0.14 LCAT Bryony Thompson Gene: lcat has been classified as Green List (High Evidence).
Dyslipidaemia v0.13 LCAT Bryony Thompson gene: LCAT was added
gene: LCAT was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 30720493; 6624548
Phenotypes for gene: LCAT were set to Fish-eye disease MIM#136120; Norum disease MIM#245900; Disorders of high density lipoprotein metabolism
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Biallelic variants cause HDL deficiency.
Sources: Literature
Dyslipidaemia v0.12 CYP27A1 Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence)
Dyslipidaemia v0.12 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.11 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 30720493; 2019602; 20301583
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700
Review for gene: CYP27A1 was set to GREEN
gene: CYP27A1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease, and cases have high plasma and tissue cholestanol concentration, and normal to low plasma cholesterol concentration.
Sources: Literature
Dyslipidaemia v0.10 CETP Bryony Thompson Marked gene: CETP as ready
Dyslipidaemia v0.10 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.10 CETP Bryony Thompson Classified gene: CETP as Amber List (moderate evidence)
Dyslipidaemia v0.10 CETP Bryony Thompson Added comment: Comment on list classification: Benign metabolic condition
Dyslipidaemia v0.10 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.9 CETP Bryony Thompson gene: CETP was added
gene: CETP was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: CETP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CETP were set to 12070157; 2586614; 27604308; 2215607; 2390095
Phenotypes for gene: CETP were set to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism
Review for gene: CETP was set to GREEN
Added comment: CETP deficiency causes mildly elevated HDL-cholesterol in heterozygotes and elevated HDL-cholesterol in biallelic carriers. Variants are mostly associated with a benign phenotype.
Sources: Literature
Dyslipidaemia v0.8 Bryony Thompson Panel name changed from Hyperlipidaemia to Dyslipidaemia
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Marked gene: CD320 as ready
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Classified gene: CD320 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.332 CD320 Bryony Thompson gene: CD320 was added
gene: CD320 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD320 were set to 29663633; 27604308; 30303736
Phenotypes for gene: CD320 were set to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism
Review for gene: CD320 was set to GREEN
Added comment: At least 9 cases reported with biallelic variants, all but 1 case are homozygous for p.Glu88del. The AF of this variant is ~1% in gnomAD v2.1.1, with 12 homozygotes. However, this is not unexpected given the apparent asymptomatic nature of the metabolic condition. Null mouse model has vitamin B12 deficiency.
Sources: Literature
Mendeliome v0.6293 SUGCT Zornitza Stark Marked gene: SUGCT as ready
Mendeliome v0.6293 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6293 SUGCT Zornitza Stark Phenotypes for gene: SUGCT were changed from to Glutaric aciduria III MIM#231690; Organic acidurias
Mendeliome v0.6292 SUGCT Zornitza Stark Publications for gene: SUGCT were set to
Mendeliome v0.6291 SUGCT Zornitza Stark Mode of inheritance for gene: SUGCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6290 SUGCT Zornitza Stark Classified gene: SUGCT as Amber List (moderate evidence)
Mendeliome v0.6290 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6289 SUGCT Zornitza Stark reviewed gene: SUGCT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28766179, 18926513, 33483254, 32779420, 27604308; Phenotypes: Glutaric aciduria III MIM#231690, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6289 SLC36A2 Zornitza Stark Marked gene: SLC36A2 as ready
Mendeliome v0.6289 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6289 SLC36A2 Zornitza Stark Phenotypes for gene: SLC36A2 were changed from to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport
Mendeliome v0.6288 SLC36A2 Zornitza Stark Publications for gene: SLC36A2 were set to
Mendeliome v0.6287 SLC36A2 Zornitza Stark Mode of inheritance for gene: SLC36A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6286 SLC36A2 Zornitza Stark Classified gene: SLC36A2 as Amber List (moderate evidence)
Mendeliome v0.6286 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6285 SLC36A2 Zornitza Stark reviewed gene: SLC36A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6285 SARDH Zornitza Stark Marked gene: SARDH as ready
Mendeliome v0.6285 SARDH Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6285 SARDH Zornitza Stark Phenotypes for gene: SARDH were changed from to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.6284 SARDH Zornitza Stark Publications for gene: SARDH were set to
Mendeliome v0.6283 SARDH Zornitza Stark Mode of inheritance for gene: SARDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6282 SARDH Zornitza Stark Classified gene: SARDH as Amber List (moderate evidence)
Mendeliome v0.6282 SARDH Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6281 SARDH Zornitza Stark reviewed gene: SARDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22825317, 27604308; Phenotypes: Sarcosinemia MIM#268900, Disorders of serine, glycine or glycerate metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6281 OPLAH Zornitza Stark Marked gene: OPLAH as ready
Mendeliome v0.6281 OPLAH Zornitza Stark Gene: oplah has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6281 OPLAH Zornitza Stark Phenotypes for gene: OPLAH were changed from to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Mendeliome v0.6280 OPLAH Zornitza Stark Publications for gene: OPLAH were set to
Mendeliome v0.6279 OPLAH Zornitza Stark Mode of inheritance for gene: OPLAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6278 OPLAH Zornitza Stark Classified gene: OPLAH as Amber List (moderate evidence)
Mendeliome v0.6278 OPLAH Zornitza Stark Gene: oplah has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6277 OPLAH Zornitza Stark Tag disputed tag was added to gene: OPLAH.
Mendeliome v0.6277 OPLAH Zornitza Stark reviewed gene: OPLAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 27477828; Phenotypes: 5-oxoprolinase deficiency MIM#260005, Disorders of the gamma-glutamyl cycle; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6277 KHK Zornitza Stark Marked gene: KHK as ready
Mendeliome v0.6277 KHK Zornitza Stark Gene: khk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6277 KHK Zornitza Stark Phenotypes for gene: KHK were changed from to Fructosuria MIM#229800; Disorders of fructose metabolism
Mendeliome v0.6276 KHK Zornitza Stark Publications for gene: KHK were set to
Mendeliome v0.6275 KHK Zornitza Stark Mode of inheritance for gene: KHK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6274 KHK Zornitza Stark Classified gene: KHK as Amber List (moderate evidence)
Mendeliome v0.6274 KHK Zornitza Stark Gene: khk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6273 KHK Zornitza Stark reviewed gene: KHK: Rating: AMBER; Mode of pathogenicity: None; Publications: 7833921, 27604308, 29870677; Phenotypes: Fructosuria MIM#229800, Disorders of fructose metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6273 HAL Zornitza Stark Marked gene: HAL as ready
Mendeliome v0.6273 HAL Zornitza Stark Gene: hal has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6273 HAL Zornitza Stark Phenotypes for gene: HAL were changed from to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism
Mendeliome v0.6272 HAL Zornitza Stark Publications for gene: HAL were set to
Mendeliome v0.6271 HAL Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6270 HAL Zornitza Stark Classified gene: HAL as Amber List (moderate evidence)
Mendeliome v0.6270 HAL Zornitza Stark Gene: hal has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6269 HAL Zornitza Stark reviewed gene: HAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 15806399, 20156889; Phenotypes: Histidinemia MIM#235800, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6269 GGT1 Zornitza Stark Phenotypes for gene: GGT1 were changed from ?Glutathioninuria 231950 to Glutathioninuria 231950
Mendeliome v0.6268 GGT1 Zornitza Stark Classified gene: GGT1 as Amber List (moderate evidence)
Mendeliome v0.6268 GGT1 Zornitza Stark Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6267 GGT1 Zornitza Stark reviewed gene: GGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6267 DCXR Zornitza Stark Marked gene: DCXR as ready
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6267 DCXR Zornitza Stark Classified gene: DCXR as Amber List (moderate evidence)
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6266 DCXR Zornitza Stark gene: DCXR was added
gene: DCXR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 22042873
Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism
Review for gene: DCXR was set to AMBER
Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign.
Sources: Expert list
Mendeliome v0.6265 CTH Zornitza Stark Marked gene: CTH as ready
Mendeliome v0.6265 CTH Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6265 CTH Zornitza Stark Phenotypes for gene: CTH were changed from to Cystathioninuria MIM#219500
Mendeliome v0.6264 CTH Zornitza Stark Publications for gene: CTH were set to
Mendeliome v0.6263 CTH Zornitza Stark Mode of inheritance for gene: CTH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6262 CTH Zornitza Stark Classified gene: CTH as Amber List (moderate evidence)
Mendeliome v0.6262 CTH Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6261 CTH Zornitza Stark reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: None; Publications: 12574942, 20584029, 24761004, 15151507; Phenotypes: Cystathioninuria MIM#219500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Additional findings_Paediatric v0.194 ACSF3 Zornitza Stark Classified gene: ACSF3 as Red List (low evidence)
Additional findings_Paediatric v0.194 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.193 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6261 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Mendeliome v0.6261 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6261 ACSF3 Zornitza Stark Phenotypes for gene: ACSF3 were changed from to Combined malonic and methylmalonic aciduria MIM#614265
Mendeliome v0.6260 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Mendeliome v0.6259 ACSF3 Zornitza Stark Mode of inheritance for gene: ACSF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6258 ACSF3 Zornitza Stark Classified gene: ACSF3 as Amber List (moderate evidence)
Mendeliome v0.6258 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6257 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.331 AASS Zornitza Stark Tag disputed tag was added to gene: AASS.
Neurodegenerative disease - adult onset v0.147 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Miscellaneous Metabolic Disorders v0.331 GATM Bryony Thompson Classified gene: GATM as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.331 GATM Bryony Thompson Gene: gatm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.330 GATM Bryony Thompson gene: GATM was added
gene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 11555793; 27604308
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718
Review for gene: GATM was set to GREEN
gene: GATM was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Marked gene: KHK as ready
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Classified gene: KHK as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Added comment: Comment on list classification: Likely a clinically benign condition
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.327 KHK Bryony Thompson gene: KHK was added
gene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KHK were set to 7833921; 27604308; 29870677
Phenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism
Review for gene: KHK was set to AMBER
Added comment: Single family with a non-pathogenic phenotype and a supporting mouse model
Sources: Literature
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Marked gene: GGT1 as ready
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Classified gene: GGT1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Added comment: Comment on list classification: Dominant form appears to be a benign metabolic condition. Currently only one recessive family reported, therefore insufficient evidence to determine clinical phenotype.
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.325 GGT1 Bryony Thompson gene: GGT1 was added
gene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature
SV/CNV tags were added to gene: GGT1.
Mode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667
Phenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle
Review for gene: GGT1 was set to AMBER
Added comment: 2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms.
Sources: Literature
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Marked gene: PREPL as ready
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Classified gene: PREPL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.323 PREPL Bryony Thompson edited their review of gene: PREPL: Changed publications: 28726805, 27604308, 24610330
Miscellaneous Metabolic Disorders v0.323 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Miscellaneous Metabolic Disorders. Sources: Literature
SV/CNV tags were added to gene: PREPL.
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 28726805; 27604308
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Review for gene: PREPL was set to GREEN
Added comment: 5 cases with isolated PREPL deficiency, 3 with hypotonia-cystinuria syndrome, and 2 with atypical hypotonia-cystinuria syndrome
Sources: Literature
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson changed review comment from: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature; to: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional homozygote reported in 2015.
Sources: Literature
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Classified gene: SLC36A2 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Added comment: Comment on list classification: Biochemical phenotypes without adverse clinical consequences
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.321 SLC36A2 Bryony Thompson gene: SLC36A2 was added
gene: SLC36A2 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 19033659; 26141664; 27604308
Phenotypes for gene: SLC36A2 were set to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport
Review for gene: SLC36A2 was set to GREEN
Added comment: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Marked gene: PYCR1 as ready
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Classified gene: PYCR1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.319 PYCR1 Bryony Thompson gene: PYCR1 was added
gene: PYCR1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 19576563; 27604308
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism
Review for gene: PYCR1 was set to GREEN
gene: PYCR1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PYCR1 deficiency causes an inborn error of proline metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson Marked gene: GCSH as ready
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson Gene: gcsh has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson gene: GCSH was added
gene: GCSH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 1671321; 27604308
Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism
Review for gene: GCSH was set to RED
Added comment: Single case reported
Sources: Literature
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Marked gene: SARDH as ready
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Classified gene: SARDH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Added comment: Comment on list classification: Benign metabolic state producing no disease
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.316 SARDH Bryony Thompson gene: SARDH was added
gene: SARDH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARDH were set to 22825317; 27604308
Phenotypes for gene: SARDH were set to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism
Review for gene: SARDH was set to GREEN
Added comment: 4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine.
Sources: Literature
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Marked gene: PSPH as ready
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Gene: psph has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Classified gene: PSPH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Gene: psph has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.314 PSPH Bryony Thompson gene: PSPH was added
gene: PSPH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 14673469; 25080166; 27604308; 26888760; 25152457
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism
Review for gene: PSPH was set to GREEN
Added comment: 9 cases in 4 families reported with biallelic variants
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.313 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Miscellaneous Metabolic Disorders v0.313 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.312 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Marked gene: DHTKD1 as ready
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Classified gene: DHTKD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.310 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 27604308; 23141293; 29661920; 25860818
Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: DHTKD1 was set to GREEN
Added comment: >10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson Marked gene: TDO2 as ready
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson Gene: tdo2 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson gene: TDO2 was added
gene: TDO2 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDO2 were set to 28285122; 27604308
Phenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: TDO2 was set to RED
Added comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences
Sources: Literature
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Marked gene: HAL as ready
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Classified gene: HAL as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.307 HAL Bryony Thompson gene: HAL was added
gene: HAL was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: HAL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HAL were set to 27604308; 15806399; 20156889
Phenotypes for gene: HAL were set to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: HAL was set to GREEN
Added comment: At least 4 individuals with heterozygous variants and 1 with biallelic variants with histidinemia, but no consistent clinical phenotype.
Sources: Literature
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Marked gene: SUGCT as ready
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Gene: sugct has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Classified gene: SUGCT as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Gene: sugct has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Marked gene: OPLAH as ready
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Classified gene: OPLAH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Marked gene: DCXR as ready
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Classified gene: DCXR as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.303 CTH Bryony Thompson Classified gene: CTH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.303 CTH Bryony Thompson Gene: cth has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.166 MSL3 Chirag Patel Classified gene: MSL3 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.166 MSL3 Chirag Patel Gene: msl3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.165 MSL3 Chirag Patel gene: MSL3 was added
gene: MSL3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MSL3 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 gene: MSL3 were set to Basilicata-Akhtar syndrome, OMIM # 301032
Review for gene: MSL3 was set to GREEN
gene: MSL3 was marked as current diagnostic
Added comment: Well established ID gene. 2021 paper expands phenotype to include cerebellar vermis hypoplasia as a consistent MRI finding. Reported 25 individuals with syndrome in paper, but 8 patients had MRI reviewed by expert - 8/8 had cerebellar hypoplasia.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.93 SUFU Chirag Patel Classified gene: SUFU as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.93 SUFU Chirag Patel Gene: sufu has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.92 SUFU Chirag Patel reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33024317; Phenotypes: congenital ocular motor apraxia (forme fruste of Joubert syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Classified gene: HPS1 as Green List (high evidence)
Lysosomal Storage Disorder v0.64 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.63 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, MIM# 203300
Review for gene: HPS1 was set to GREEN
Added comment: Well established gene-disease association. Gene product is involved in biogenesis of lysosomal organelles.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.301 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 27604308; 15385440
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias
Review for gene: L2HGDH was set to GREEN
gene: L2HGDH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). L-2-hydroxyglutaric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an organic aciduria.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Classified gene: SUGCT as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Added comment: Comment on list classification: Likely benign condition
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Gene: sugct has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.299 SUGCT Bryony Thompson gene: SUGCT was added
gene: SUGCT was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUGCT were set to 28766179; 18926513; 33483254; 32779420; 27604308
Phenotypes for gene: SUGCT were set to Glutaric aciduria III MIM#231690; Organic acidurias
Review for gene: SUGCT was set to GREEN
Added comment: At least 10 cases reported with glutaric aciduria 3. There is insufficient evidence to define any specific clinical phenotype as attributable to GA3. GA3 is a naturally occurring biochemical trait in mouse models.
Sources: Literature
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Marked gene: TTPA as ready
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Classified gene: TTPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.296 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308; 7719340
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors
Review for gene: TTPA was set to GREEN
gene: TTPA was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Ataxia with vitamin E deficiency (AVED) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Marked gene: PEPD as ready
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Gene: pepd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Classified gene: PEPD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Gene: pepd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.294 PEPD Bryony Thompson gene: PEPD was added
gene: PEPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 27604308; 2365824
Phenotypes for gene: PEPD were set to Prolidase deficiency MIM#170100; disorders of peptide metabolism
Review for gene: PEPD was set to GREEN
gene: PEPD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Prolidase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Marked gene: PCK1 as ready
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Classified gene: PCK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.292 PCK1 Bryony Thompson gene: PCK1 was added
gene: PCK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK1 were set to 24863970; 28216384; 26971250; 27604308
Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis
Review for gene: PCK1 was set to GREEN
Added comment: 6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Marked gene: PAH as ready
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Gene: pah has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Classified gene: PAH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Gene: pah has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.290 PAH Bryony Thompson gene: PAH was added
gene: PAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 27604308; 3008810
Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism
Review for gene: PAH was set to GREEN
gene: PAH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Phenylketonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of phenylalanine metabolism.
Sources: NHS GMS
Mendeliome v0.6257 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Mendeliome v0.6257 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Mendeliome v0.6257 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Mendeliome v0.6256 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Mendeliome v0.6255 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Mendeliome v0.6254 PHGDH Zornitza Stark reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.288 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 24836451; 25152457; 11055895; 19235232
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to GREEN
Added comment: Well established gene-disease association, severity depends on amount of residual enzyme activity.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Classified gene: OPLAH as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Added comment: Comment on list classification: Appears to be a benign biochemical defect
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Gene: oplah has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.286 OPLAH Bryony Thompson gene: OPLAH was added
gene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27604308; 27477828
Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Review for gene: OPLAH was set to GREEN
Added comment: Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds
Sources: NHS GMS
Mendeliome v0.6254 REC114 Zornitza Stark Phenotypes for gene: REC114 were changed from Female infertility to Female infertility; Oocyte maturation defect 10, MIM# 619176
Mendeliome v0.6253 REC114 Zornitza Stark reviewed gene: REC114: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte maturation defect 10, MIM# 619176; Mode of inheritance: None
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Classified gene: PINK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.284 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to 27604308; 15087508; 16207731; 18003639; 18524835
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset, MIM# 605909
Review for gene: PINK1 was set to GREEN
Added comment: The PINK1 gene encodes a mitochondrially located serine/threonine kinase. Multiple families reported.
Sources: Expert list
Mendeliome v0.6253 PNP Zornitza Stark Marked gene: PNP as ready
Mendeliome v0.6253 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Mendeliome v0.6253 PNP Zornitza Stark Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Mendeliome v0.6252 PNP Zornitza Stark Publications for gene: PNP were set to
Mendeliome v0.6251 PNP Zornitza Stark Mode of inheritance for gene: PNP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6250 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 3029074, 1384322, 11453975, 32695102, 32514656; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Marked gene: PNP as ready
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Classified gene: PNP as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.282 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 3029074; 1384322; 11453975; 32695102; 32514656
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Review for gene: PNP was set to GREEN
Added comment: Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment.

Severity and age of onset dependent on amount of residual activity. Multiple families reported.
Sources: Expert list
Mendeliome v0.6250 PNPLA2 Zornitza Stark Marked gene: PNPLA2 as ready
Mendeliome v0.6250 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Green List (High Evidence).
Mendeliome v0.6250 PNPLA2 Zornitza Stark Phenotypes for gene: PNPLA2 were changed from to Neutral lipid storage disease with myopathy MIM#610717
Mendeliome v0.6249 PNPLA2 Zornitza Stark Publications for gene: PNPLA2 were set to
Mendeliome v0.6248 PNPLA2 Zornitza Stark Mode of inheritance for gene: PNPLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6247 PNPLA2 Zornitza Stark reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 25287355, 25956450, 21544567; Phenotypes: Neutral lipid storage disease with myopathy MIM#610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.82 PNPLA2 Zornitza Stark reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Marked gene: POR as ready
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Classified gene: POR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.280 POR Zornitza Stark gene: POR was added
gene: POR was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27604308; 14758361; 15793702; 15220035; 15483095; 16470797
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Review for gene: POR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Marked gene: PRODH as ready
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Classified gene: PRODH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.278 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH were set to 17412540; 12217952
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Proline oxidase deficiency
Review for gene: PRODH was set to GREEN
Added comment: At least 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Classified gene: PRPS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.276 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Review for gene: PRPS1 was set to GREEN
Added comment: Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.

Both increased and decreased enzyme activity has been linked to disease.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.274 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 32077105
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038
Review for gene: PSAT1 was set to GREEN
Added comment: Severity of disease correlates with residual enzyme activity. Multiple families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Classified gene: RBP4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.272 RBP4 Zornitza Stark gene: RBP4 was added
gene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147
Review for gene: RBP4 was set to GREEN
Added comment: Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells.

At least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models.
Sources: Expert list
Mendeliome v0.6247 RPIA Zornitza Stark reviewed gene: RPIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14988808, 31056085, 31247379; Phenotypes: Ribose 5-phosphate isomerase deficiency, MIM# 608611, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Marked gene: RPIA as ready
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Classified gene: RPIA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.269 RPIA Zornitza Stark gene: RPIA was added
gene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 31056085; 31247379
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy
Review for gene: RPIA was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Marked gene: NT5C3A as ready
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Classified gene: NT5C3A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.267 NT5C3A Bryony Thompson gene: NT5C3A was added
gene: NT5C3A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 11369620; 11369620
Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism
Review for gene: NT5C3A was set to GREEN
gene: NT5C3A was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Marked gene: NSDHL as ready
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Gene: nsdhl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Classified gene: NSDHL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Gene: nsdhl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.265 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: NSDHL 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: NSDHL were set to 27604308; 10710235
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Disorders of sterol biosynthesis
Review for gene: NSDHL was set to GREEN
gene: NSDHL was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Marked gene: MVK as ready
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Classified gene: MVK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.263 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27604308; 1377680
Phenotypes for gene: MVK were set to Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis
Review for gene: MVK was set to GREEN
gene: MVK was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Mevalonic aciduria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Marked gene: GPHN as ready
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Gene: gphn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Classified gene: GPHN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Gene: gphn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.261 GPHN Bryony Thompson gene: GPHN was added
gene: GPHN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308; 11095995; 22040219; 9812897
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism
Review for gene: GPHN was set to GREEN
Added comment: 4 cases in 2 unrelated families and a supporting null mouse model.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Marked gene: MTTP as ready
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Classified gene: MTTP as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.259 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308; 8533758
Phenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias
Review for gene: MTTP was set to GREEN
gene: MTTP was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Marked gene: MTRR as ready
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Classified gene: MTRR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.257 MTRR Bryony Thompson gene: MTRR was added
gene: MTRR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 27604308; 9501215
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids
Review for gene: MTRR was set to GREEN
gene: MTRR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Marked gene: MTR as ready
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Classified gene: MTR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.255 MTR Bryony Thompson gene: MTR was added
gene: MTR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 8968735; 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria
Review for gene: MTR was set to GREEN
gene: MTR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methionine synthase deficiency-cblG is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Marked gene: MTHFR as ready
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Classified gene: MTHFR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.253 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 27604308; 7920641
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport
Review for gene: MTHFR was set to GREEN
gene: MTHFR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Homocystinuria due to MTHFR deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of folate metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Marked gene: MSMO1 as ready
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Classified gene: MSMO1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.251 MSMO1 Bryony Thompson gene: MSMO1 was added
gene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols
Review for gene: MSMO1 was set to GREEN
gene: MSMO1 was marked as current diagnostic
Added comment: 5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Marked gene: MOCS2 as ready
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Gene: mocs2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Classified gene: MOCS2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Gene: mocs2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.249 MOCS2 Bryony Thompson gene: MOCS2 was added
gene: MOCS2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308; 10053004
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Review for gene: MOCS2 was set to GREEN
gene: MOCS2 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Marked gene: MOCS1 as ready
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Gene: mocs1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Classified gene: MOCS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Gene: mocs1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.247 MOCS1 Bryony Thompson gene: MOCS1 was added
gene: MOCS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308; 9731530
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A MIM#252150; Disorders of molybdenum cofactor metabolism
Review for gene: MOCS1 was set to GREEN
gene: MOCS1 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.245 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 27604308; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMADHC was set to GREEN
gene: MMADHC was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Marked gene: MMACHC as ready
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.243 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308; 16311595
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMACHC was set to GREEN
gene: MMACHC was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Clefting disorders v0.95 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Clefting disorders v0.95 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.95 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from DBA15; DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; Cleft palate to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate
Clefting disorders v0.94 RPS28 Zornitza Stark Publications for gene: RPS28 were set to
Clefting disorders v0.93 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Clefting disorders v0.93 INTS1 Zornitza Stark Gene: ints1 has been classified as Red List (Low Evidence).
Clefting disorders v0.93 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Clefting disorders v0.93 INTS1 Zornitza Stark Gene: ints1 has been classified as Red List (Low Evidence).
Clefting disorders v0.93 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from Cleft palate to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Cleft palate
Clefting disorders v0.92 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Clefting disorders v0.91 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.90 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Clefting disorders v0.90 SELENOI Zornitza Stark Gene: selenoi has been classified as Red List (Low Evidence).
Clefting disorders v0.90 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Cleft palate to Cleft palate; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals
Clefting disorders v0.89 SELENOI Zornitza Stark Publications for gene: SELENOI were set to
Clefting disorders v0.88 SELENOI Zornitza Stark Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.87 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Clefting disorders v0.87 TBX2 Zornitza Stark Gene: tbx2 has been classified as Red List (Low Evidence).
Clefting disorders v0.87 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Clefting disorders v0.87 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Clefting disorders v0.87 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from Cleft palate to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Cleft palate
Clefting disorders v0.86 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Clefting disorders v0.85 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.84 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Clefting disorders v0.84 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Clefting disorders v0.84 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It 614921; Cleft palate
Clefting disorders v0.83 PGM1 Zornitza Stark Publications for gene: PGM1 were set to 31563034; 26303607; 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Clefting disorders v0.82 PGM1 Zornitza Stark Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Clefting disorders v0.81 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Clefting disorders v0.80 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.79 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Clefting disorders v0.79 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Clefting disorders v0.79 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from BLEPHAROCHEILODONTIC; Cleft palate to Blepharocheilodontic syndrome 2, MIM# 617681
Clefting disorders v0.78 CTNND1 Zornitza Stark Publications for gene: CTNND1 were set to 28301459
Clefting disorders v0.77 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Clefting disorders v0.77 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Clefting disorders v0.76 Zornitza Stark Panel name changed from Clefting_GEL to Clefting disorders
Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Clefting disorders v0.75 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Clefting disorders v0.75 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.75 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Amber List (moderate evidence)
Clefting disorders v0.75 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.74 FBRSL1 Zornitza Stark gene: FBRSL1 was added
gene: FBRSL1 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome; Cleft palate
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Expert list
Mendeliome v0.6247 ESRP2 Zornitza Stark Marked gene: ESRP2 as ready
Mendeliome v0.6247 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6247 ESRP2 Zornitza Stark Phenotypes for gene: ESRP2 were changed from to Cleft lip
Mendeliome v0.6246 ESRP2 Zornitza Stark Publications for gene: ESRP2 were set to
Mendeliome v0.6245 ESRP2 Zornitza Stark Mode of inheritance for gene: ESRP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6244 ESRP2 Zornitza Stark Classified gene: ESRP2 as Amber List (moderate evidence)
Mendeliome v0.6244 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6243 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.73 ESRP2 Zornitza Stark Marked gene: ESRP2 as ready
Clefting disorders v0.73 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.73 ESRP2 Zornitza Stark reviewed gene: ESRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.73 EDN1 Zornitza Stark Marked gene: EDN1 as ready
Clefting disorders v0.73 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.73 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from Cleft palate to Auriculocondylar syndrome 3, MIM# 615706; Cleft palate
Clefting disorders v0.72 EDN1 Zornitza Stark Publications for gene: EDN1 were set to
Clefting disorders v0.71 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.70 EDN1 Zornitza Stark Classified gene: EDN1 as Amber List (moderate evidence)
Clefting disorders v0.70 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.69 EDN1 Zornitza Stark edited their review of gene: EDN1: Changed rating: AMBER
Clefting disorders v0.69 EDN1 Zornitza Stark reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.68 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Clefting disorders v0.68 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.68 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Cleft palate to Stickler syndrome; Cleft palate
Clefting disorders v0.67 COL9A3 Zornitza Stark Publications for gene: COL9A3 were set to
Clefting disorders v0.66 COL9A3 Zornitza Stark Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.65 COL9A3 Zornitza Stark Classified gene: COL9A3 as Amber List (moderate evidence)
Clefting disorders v0.65 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.64 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24273071, 30450842, 31090205, 20301479; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.64 Zornitza Stark Panel types changed to Rare Disease
Clefting disorders v0.63 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Clefting disorders v0.63 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.63 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate to Stickler syndrome, type V, MIM# 614284
Clefting disorders v0.62 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to 21671392
Clefting disorders v0.61 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: None
Clefting disorders v0.61 CHD1 Zornitza Stark Marked gene: CHD1 as ready
Clefting disorders v0.61 CHD1 Zornitza Stark Gene: chd1 has been classified as Red List (Low Evidence).
Clefting disorders v0.61 CHD1 Zornitza Stark reviewed gene: CHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Clefting disorders v0.61 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Clefting disorders v0.61 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Clefting disorders v0.61 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625 to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Clefting disorders v0.60 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Clefting disorders v0.59 BMP4 Zornitza Stark Classified gene: BMP4 as Green List (high evidence)
Clefting disorders v0.59 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Clefting disorders v0.58 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31053785, 19249007, 31909686; Phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.58 ANKRD17 Zornitza Stark Marked gene: ANKRD17 as ready
Clefting disorders v0.58 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.58 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Clefting disorders v0.58 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.57 ANKRD17 Zornitza Stark gene: ANKRD17 was added
gene: ANKRD17 was added to Clefting_GEL. Sources: Expert Review
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features
Review for gene: ANKRD17 was set to AMBER
Added comment: Emerging evidence.
Sources: Expert Review
Clefting disorders v0.56 AMOTL1 Zornitza Stark Marked gene: AMOTL1 as ready
Clefting disorders v0.56 AMOTL1 Zornitza Stark Gene: amotl1 has been classified as Red List (Low Evidence).
Clefting disorders v0.56 AMOTL1 Zornitza Stark gene: AMOTL1 was added
gene: AMOTL1 was added to Clefting_GEL. Sources: Literature
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 33026150
Phenotypes for gene: AMOTL1 were set to Cleft lip and palate; imperforate anus; dysmorphism
Review for gene: AMOTL1 was set to RED
Added comment: Two unrelated families reported. In one, the variant was identified in parent and child who had orofacial cleft and cardiac abnormalities. Second report in PMID 33026150, de novo missense variant and cleft lip/palate, imperforate anus and dysmorphism. Mouse model does not recapitulate phenotype.
Sources: Literature
Mendeliome v0.6243 ACBD5 Zornitza Stark Marked gene: ACBD5 as ready
Mendeliome v0.6243 ACBD5 Zornitza Stark Gene: acbd5 has been classified as Green List (High Evidence).
Mendeliome v0.6243 ACBD5 Zornitza Stark Phenotypes for gene: ACBD5 were changed from to Retinal dystrophy with leukodystrophy, MIM# 618863
Mendeliome v0.6242 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to
Mendeliome v0.6241 ACBD5 Zornitza Stark Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6240 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.55 ACBD5 Zornitza Stark Marked gene: ACBD5 as ready
Clefting disorders v0.55 ACBD5 Zornitza Stark Gene: acbd5 has been classified as Red List (Low Evidence).
Clefting disorders v0.55 ACBD5 Zornitza Stark Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, MIM# 618863; Cleft palate
Clefting disorders v0.54 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to
Clefting disorders v0.53 ACBD5 Zornitza Stark Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.52 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: RED; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6240 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Mendeliome v0.6240 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Mendeliome v0.6240 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from to Chylomicron retention disease, MIM# 246700
Mendeliome v0.6239 SAR1B Zornitza Stark Publications for gene: SAR1B were set to
Mendeliome v0.6238 SAR1B Zornitza Stark Mode of inheritance for gene: SAR1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6237 SAR1B Zornitza Stark reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552; Phenotypes: Chylomicron retention disease, MIM# 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Classified gene: SAR1B as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.241 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 12692552
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
Added comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.
Sources: Expert Review
Cataract v0.265 SC5D Zornitza Stark Marked gene: SC5D as ready
Cataract v0.265 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Cataract v0.265 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from to Lathosterolosis, MIM# 607330
Cataract v0.264 SC5D Zornitza Stark Publications for gene: SC5D were set to
Cataract v0.263 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.262 SC5D Zornitza Stark reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6237 SC5D Zornitza Stark Marked gene: SC5D as ready
Mendeliome v0.6237 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Mendeliome v0.6237 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from to Lathosterolosis, MIM# 607330
Mendeliome v0.6236 SC5D Zornitza Stark Publications for gene: SC5D were set to
Mendeliome v0.6235 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6234 SC5D Zornitza Stark reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Marked gene: SC5D as ready
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Classified gene: SC5D as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.239 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SC5D were set to 17853487; 12189593; 12812989; 24142275
Phenotypes for gene: SC5D were set to Lathosterolosis, MIM# 607330
Review for gene: SC5D was set to GREEN
Added comment: Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency.

More than 5 unrelated families reported.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Marked gene: SI as ready
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Classified gene: SI as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.237 SI Zornitza Stark gene: SI was added
gene: SI was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Review for gene: SI was set to GREEN
Added comment: Well established gene-disease association, presents with osmotic diarrhoea.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Classified gene: SLC2A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.234 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport
Review for gene: SLC2A1 was set to GREEN
Added comment: Well established gene disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.231 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Hypermanganesemia with dystonia-1 (HMNDYT1) is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.

More than 5 unrelated families reported.
Sources: Expert list
Regression v0.236 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.236 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.236 SLC39A14 Zornitza Stark Classified gene: SLC39A14 as Green List (high evidence)
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.235 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142; 29685658
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to GREEN
Added comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit. More than 5 unrelated families reported.
Sources: Expert Review
Mendeliome v0.6234 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Mendeliome v0.6234 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Mendeliome v0.6234 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2, MIM# 617013
Mendeliome v0.6233 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Mendeliome v0.6232 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6231 SLC39A14 Zornitza Stark reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 29685658; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Classified gene: SLC39A14 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.229 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142; 29685658
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to GREEN
Added comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.227 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308; 12068297
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica MIM#201100; (Disorder of zinc metabolism)
Review for gene: SLC39A4 was set to GREEN
Added comment: More than 3 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3436 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Intellectual disability syndromic and non-syndromic v0.3436 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3436 SLC46A1 Zornitza Stark Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary, MIM# 229050
Intellectual disability syndromic and non-syndromic v0.3435 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Intellectual disability syndromic and non-syndromic v0.3434 SLC46A1 Zornitza Stark Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3433 SLC46A1 Zornitza Stark reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17446347, 17129779, 21333572; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6231 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Mendeliome v0.6231 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Mendeliome v0.6231 SLC46A1 Zornitza Stark Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary, MIM# 229050
Mendeliome v0.6230 SLC46A1 Zornitza Stark Publications for gene: SLC46A1 were set to
Mendeliome v0.6229 SLC46A1 Zornitza Stark Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6228 SLC46A1 Zornitza Stark changed review comment from: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.; to: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhoea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system. More than 5 unrelated families reported.
Mendeliome v0.6228 SLC46A1 Zornitza Stark reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17446347, 17129779, 21333572; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Classified gene: SLC46A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.224 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17446347; 17129779; 21333572
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050
Review for gene: SLC46A1 was set to GREEN
Added comment: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Classified gene: SLC5A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.222 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport)
Review for gene: SLC5A1 was set to GREEN
Added comment: At least 3 unrelated families reported, presentation is with osmotic diarrhoea.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from SLC5A6-related Neurodevelopmental Disorder to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Miscellaneous Metabolic Disorders v0.218 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.218 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.217 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Miscellaneous Metabolic Disorders v0.217 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 29669219; 23104561; 31754459; 27904971; 31392107
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
Review for gene: SLC5A6 was set to GREEN
Added comment: At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107).
Sources: Expert list
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.215 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Review for gene: SLC6A19 was set to GREEN
Added comment: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Green List (High Evidence).
Mendeliome v0.6228 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090
Mendeliome v0.6227 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Mendeliome v0.6226 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6225 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23252400, 21907012, 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.9 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to 23252400; 21907012
Congenital Disorders of Glycosylation v1.8 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.8 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.7 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Classified gene: TREX1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.213 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Disorder of nucleotide metabolism
Review for gene: TREX1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Glaucoma congenital v1.3 DDX58 Zornitza Stark Publications for gene: DDX58 were set to 25620203
Mendeliome v0.6225 DDX58 Zornitza Stark edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6225 DDX58 Zornitza Stark edited their review of gene: DDX58: Changed publications: 25620203, 30574673, 33495304
Mendeliome v0.6225 DDX58 Zornitza Stark Publications for gene: DDX58 were set to 25620203; 33495304
Mendeliome v0.6224 DDX58 Zornitza Stark Mode of pathogenicity for gene: DDX58 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Glaucoma congenital v1.2 DDX58 Zornitza Stark Mode of pathogenicity for gene: DDX58 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6223 DDX58 Zornitza Stark Publications for gene: DDX58 were set to 25620203
Mendeliome v0.6222 DDX58 Zornitza Stark Mode of pathogenicity for gene: DDX58 was changed from to Other
Mendeliome v0.6221 DDX58 Zornitza Stark edited their review of gene: DDX58: Added comment: Prasov et al. 2021 (PMID: 33495304) - A heterozygous DDX58 variant (c.1529A>T) was identified in 5 individuals from 2 unrelated families from different ethnic backgrounds. Phenotypes varied with some being severely affected by systemic features and others solely with glaucoma.Functional analysis demonstrated the variant confers a dominant gain-of-function effect on interferon activity.; Changed mode of pathogenicity: Other; Changed publications: 25620203, 33495304
Glaucoma congenital v1.1 DDX58 Zornitza Stark Classified gene: DDX58 as Green List (high evidence)
Glaucoma congenital v1.1 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Marked gene: MCEE as ready
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Classified gene: MCEE as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.210 MCEE Bryony Thompson gene: MCEE was added
gene: MCEE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 27604308; 16752391; 32521958; 31146325; 32719376; 30682498
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias
Review for gene: MCEE was set to GREEN
gene: MCEE was marked as current diagnostic
Added comment: Over 10 cases with biallelic variants reported. Methylmalonic acidemia is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Marked gene: MCCC2 as ready
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Classified gene: MCCC2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.208 MCCC2 Bryony Thompson gene: MCCC2 was added
gene: MCCC2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to 27604308; 11181649
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Review for gene: MCCC2 was set to GREEN
gene: MCCC2 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Marked gene: MCCC1 as ready
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Classified gene: MCCC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.206 MCCC1 Bryony Thompson gene: MCCC1 was added
gene: MCCC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 27604308; 11170888
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Review for gene: MCCC1 was set to GREEN
gene: MCCC1 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Marked gene: MAT1A as ready
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Gene: mat1a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Classified gene: MAT1A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Gene: mat1a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.204 MAT1A Bryony Thompson gene: MAT1A was added
gene: MAT1A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 27604308; 7560086
Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Review for gene: MAT1A was set to GREEN
gene: MAT1A was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methionine adenosyltransferase deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of methionine metabolism.
Sources: NHS GMS
Glaucoma congenital v1.0 DDX58 Arina Puzriakova reviewed gene: DDX58: 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: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Marked gene: LMBRD1 as ready
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Classified gene: LMBRD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.202 LMBRD1 Bryony Thompson gene: LMBRD1 was added
gene: LMBRD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 19136951; 27604308
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type MIM#277380; Disorders of cobalamin absorption, transport and metabolism
Review for gene: LMBRD1 was set to GREEN
gene: LMBRD1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Methylmalonic aciduria and homocystinuria is a disorder of cobalamin metabolism.
Sources: NHS GMS
Dyslipidaemia v0.7 LIPC Bryony Thompson changed review comment from: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS; to: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS
Dyslipidaemia v0.7 LIPC Bryony Thompson edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447
Dyslipidaemia v0.7 LIPC Bryony Thompson Marked gene: LIPC as ready
Dyslipidaemia v0.7 LIPC Bryony Thompson Gene: lipc has been classified as Green List (High Evidence).
Dyslipidaemia v0.7 LIPC Bryony Thompson Classified gene: LIPC as Green List (high evidence)
Dyslipidaemia v0.7 LIPC Bryony Thompson Gene: lipc has been classified as Green List (High Evidence).
Dyslipidaemia v0.6 LIPC Bryony Thompson gene: LIPC was added
gene: LIPC was added to Hyperlipidaemia. Sources: NHS GMS
Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 1671786; 12777476; 1883393; 23219720; 26423094; 22464213
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency MIM#614025; Inherited mixed hyperlipidaemias; hyperalphalipoproteinemia
Review for gene: LIPC was set to GREEN
Added comment: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Marked gene: LCT as ready
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Gene: lct has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Classified gene: LCT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Gene: lct has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.200 LCT Bryony Thompson gene: LCT was added
gene: LCT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCT were set to 9758622; 27604308
Phenotypes for gene: LCT were set to Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders
Review for gene: LCT was set to GREEN
gene: LCT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Lactase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of carbohydrate metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Marked gene: LBR as ready
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Gene: lbr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Classified gene: LBR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Gene: lbr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.198 LBR Bryony Thompson gene: LBR was added
gene: LBR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBR were set to 12618959; 27604308
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis
Review for gene: LBR was set to GREEN
gene: LBR was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Greenberg dysplasia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Marked gene: LARS as ready
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Gene: lars has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Classified gene: LARS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Gene: lars has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.196 LARS Bryony Thompson gene: LARS was added
gene: LARS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 22607940; 30349989; 28774368
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism
Review for gene: LARS was set to GREEN
Added comment: 7 families reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Marked gene: KYNU as ready
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Gene: kynu has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Classified gene: KYNU as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Gene: kynu has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.194 KYNU Bryony Thompson gene: KYNU was added
gene: KYNU was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 17334708; 28792876; 31923704
Phenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: KYNU was set to GREEN
Added comment: At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model
Sources: NHS GMS
Mendeliome v0.6221 KL Bryony Thompson Marked gene: KL as ready
Mendeliome v0.6221 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Marked gene: KL as ready
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.24 KL Bryony Thompson Publications for gene: KL were set to
Mendeliome v0.6221 KL Bryony Thompson Publications for gene: KL were set to
Calcium and Phosphate disorders v0.23 KL Bryony Thompson Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia
Mendeliome v0.6220 KL Bryony Thompson Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia
Mendeliome v0.6219 KL Bryony Thompson Classified gene: KL as Amber List (moderate evidence)
Mendeliome v0.6219 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6218 KL Bryony Thompson reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: None
Calcium and Phosphate disorders v0.22 KL Bryony Thompson Mode of inheritance for gene: KL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.21 KL Bryony Thompson Classified gene: KL as Amber List (moderate evidence)
Calcium and Phosphate disorders v0.21 KL Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.20 KL Bryony Thompson reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.23 KL Bryony Thompson Publications for gene: KL were set to
Hypophosphataemia or rickets v0.22 KL Bryony Thompson Deleted their comment
Hypophosphataemia or rickets v0.22 KL Bryony Thompson edited their review of gene: KL: Added comment: A single case with a de novo translocation with a breakpoint adjacent to KL, markedly increasing plasma alpha-Klotho levels and beta-glucuronidase activity.; Changed publications: 18308935; Changed phenotypes: Hypophosphatemic rickets, hyperparathyroidism; Changed mode of inheritance: Unknown
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Marked gene: ITPA as ready
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Gene: itpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Classified gene: ITPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Gene: itpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.192 ITPA Bryony Thompson gene: ITPA was added
gene: ITPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 27604308; 12384777
Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism
Review for gene: ITPA was set to GREEN
gene: ITPA was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Inosine triphosphatase deficiency is considered an inborn error of purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Marked gene: HSD3B7 as ready
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Classified gene: HSD3B7 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.190 HSD3B7 Bryony Thompson gene: HSD3B7 was added
gene: HSD3B7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B7 were set to 11067870; 27604308
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis
Review for gene: HSD3B7 was set to GREEN
gene: HSD3B7 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Congenital bile acid synthesis defect is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Marked gene: HS2ST1 as ready
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Gene: hs2st1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Classified gene: HS2ST1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Gene: hs2st1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.188 HS2ST1 Bryony Thompson gene: HS2ST1 was added
gene: HS2ST1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Review for gene: HS2ST1 was set to GREEN
Added comment: 4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Marked gene: HPD as ready
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Gene: hpd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Classified gene: HPD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Gene: hpd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.186 HPD Bryony Thompson gene: HPD was added
gene: HPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HPD were set to 10942115; 11073718; 27604308
Phenotypes for gene: HPD were set to Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism
Review for gene: HPD was set to GREEN
gene: HPD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). 4-hydroxyphenylpyruvate dioxygenase deficiencies are classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Marked gene: HGD as ready
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Classified gene: HGD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.184 HGD Bryony Thompson gene: HGD was added
gene: HGD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 8782815; 27604308
Phenotypes for gene: HGD were set to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Review for gene: HGD was set to GREEN
gene: HGD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Alkaptonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Marked gene: HCFC1 as ready
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Classified gene: HCFC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.182 HCFC1 Bryony Thompson gene: HCFC1 was added
gene: HCFC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 24011988
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) MIM#309541; disorder of cobalamin metabolism
Review for gene: HCFC1 was set to GREEN
gene: HCFC1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Methylmalonic acidemia and homocysteinemia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Marked gene: HAAO as ready
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Gene: haao has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Classified gene: HAAO as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Gene: haao has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.180 HAAO Bryony Thompson gene: HAAO was added
gene: HAAO was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency
Review for gene: HAAO was set to GREEN
Added comment: 2 unrelated cases reported with homozygous variants from consanguineous families, and a supporting mouse model.
Sources: NHS GMS
Metabolic Disorders Superpanel v1.222 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Miscellaneous Metabolic Disorders; Rhabdomyolysis; Lysosomal Storage Disorder; Nephrolithiasis and Nephrocalcinosis; Glycogen Storage Diseases; Renal Abnormalities of Magnesium Metabolism; Iron metabolism disorders; Renal abnormalities of calcium and phosphate metabolism; Renal Hypertension and Disorders of Aldosterone Metabolism; Peroxisomal Disorders; Vitamin C Pathway Disorders; Metabolic renal disease; Hypomagnesaemia; Porphyria; Hyperlipidaemia; Hyperammonaemia
Metal Metabolism Disorders v0.22 FTL Bryony Thompson Marked gene: FTL as ready
Metal Metabolism Disorders v0.22 FTL Bryony Thompson Gene: ftl has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.22 FTL Bryony Thompson reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493028; Phenotypes: Hyperferritinemia-cataract syndrome MIM#600886, L-ferritin deficiency, dominant and recessive MIM#615604, Neurodegeneration with brain iron accumulation 3 MIM#606159; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6218 GLRX2 Bryony Thompson Marked gene: GLRX2 as ready
Mendeliome v0.6218 GLRX2 Bryony Thompson Gene: glrx2 has been classified as Red List (Low Evidence).
Mendeliome v0.6218 GLRX2 Bryony Thompson Classified gene: GLRX2 as Red List (low evidence)
Mendeliome v0.6218 GLRX2 Bryony Thompson Gene: glrx2 has been classified as Red List (Low Evidence).
Mendeliome v0.6217 GLRX2 Bryony Thompson reviewed gene: GLRX2: Rating: RED; Mode of pathogenicity: None; Publications: 25362663; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6217 GLRX3 Bryony Thompson Classified gene: GLRX3 as Red List (low evidence)
Mendeliome v0.6217 GLRX3 Bryony Thompson Gene: glrx3 has been classified as Red List (Low Evidence).
Mendeliome v0.6216 GLRX3 Bryony Thompson reviewed gene: GLRX3: Rating: RED; Mode of pathogenicity: None; Publications: 23615448; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6216 GSTO2 Bryony Thompson Marked gene: GSTO2 as ready
Mendeliome v0.6216 GSTO2 Bryony Thompson Gene: gsto2 has been classified as Red List (Low Evidence).
Mendeliome v0.6216 GSTO2 Bryony Thompson Classified gene: GSTO2 as Red List (low evidence)
Mendeliome v0.6216 GSTO2 Bryony Thompson Gene: gsto2 has been classified as Red List (Low Evidence).
Mendeliome v0.6215 GSTO2 Bryony Thompson reviewed gene: GSTO2: Rating: RED; Mode of pathogenicity: None; Publications: 12618591; Phenotypes: ; Mode of inheritance: Unknown
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Marked gene: GSS as ready
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Gene: gss has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Classified gene: GSS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Gene: gss has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.178 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Review for gene: GSS was set to GREEN
gene: GSS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Marked gene: GPD1 as ready
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Classified gene: GPD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.176 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 32591995; 22226083; 33447932
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency
Review for gene: GPD1 was set to GREEN
gene: GPD1 was marked as current diagnostic
Added comment: At least 17 cases reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Marked gene: GNMT as ready
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Gene: gnmt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Classified gene: GNMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Gene: gnmt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.174 GNMT Bryony Thompson gene: GNMT was added
gene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470
Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids
Review for gene: GNMT was set to GREEN
Added comment: Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Marked gene: GLYCTK as ready
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Gene: glyctk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson changed review comment from: At least 4 unrelated cases reported
Sources: NHS GMS; to: At least 4 unrelated cases reported. D-glyceric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Classified gene: GLYCTK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Gene: glyctk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.172 GLYCTK Bryony Thompson gene: GLYCTK was added
gene: GLYCTK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLYCTK were set to 20949620; 31837836
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism
Review for gene: GLYCTK was set to GREEN
gene: GLYCTK was marked as current diagnostic
Added comment: At least 4 unrelated cases reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Marked gene: GLUL as ready
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Gene: glul has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Classified gene: GLUL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Gene: glul has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.170 GLUL Bryony Thompson gene: GLUL was added
gene: GLUL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 16267323; 21353613; 33150193
Phenotypes for gene: GLUL were set to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Review for gene: GLUL was set to GREEN
gene: GLUL was marked as current diagnostic
Added comment: At least 5 cases in 4 families have been reported with glutamine deficiency.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Marked STR: GLS as ready
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Str: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Classified STR: GLS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Str: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.168 GLS Bryony Thompson STR: GLS was added
STR: GLS was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for STR: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS were set to 30970188
Phenotypes for STR: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Review for STR: GLS was set to GREEN
Added comment: NM_014905.5(GLS):c.-212_-210GCA[X]
3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications.
Sources: Literature
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Marked gene: GLS as ready
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Classified gene: GLS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.166 GLS Bryony Thompson Publications for gene: GLS were set to
Miscellaneous Metabolic Disorders v0.164 GLS Bryony Thompson gene: GLS was added
gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism
Craniosynostosis v1.15 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Craniosynostosis v1.15 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Craniosynostosis v1.15 SIX1 Zornitza Stark Classified gene: SIX1 as Green List (high evidence)
Craniosynostosis v1.15 SIX1 Zornitza Stark Gene: six1 has been classified as Green List (High Evidence).
Craniosynostosis v1.14 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIX1 were set to 33436522
Phenotypes for gene: SIX1 were set to Sagittal synostosis; Multi-suture synostosis
Review for gene: SIX1 was set to GREEN
Added comment: Calpena et al 2021 (PMID:33436522) identified 7 families in which the proband had craniosynostosis (affecting at least the sagittal suture in all cases) and a heterozygous SIX1 variant (4 nonsense + 3 missense in highly conserved residues of SIX domain or homeodomain). SIX1 mutations (mostly missense) were previously described in branchio-otic syndrome (BOS). Patients and carriers in the extended family variably had features of BOS (including branchial cysts, ear tags or pits, and hearing loss), but there were also several non-penetrant heterozygous individuals, indicating variation in expressivity. SIX1 analysis is therefore particularly indicated in individuals with either (1) additional BOS features or (2) sagittal+bilambdoid synostosis.
Sources: Literature
Mendeliome v0.6215 SIX1 Zornitza Stark changed review comment from: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.; to: Deafness/BOS: DEFINITIVE by ClinGen. Variable expressivity, some families reported with isolated deafness, however this likely represents a spectrum rather than a separate disorder.
Mendeliome v0.6215 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389 to Deafness, autosomal dominant 23, MIM# 605192; Branchiootic syndrome 3, MIM# 608389; Sagittal synostosis; Multi-suture synostosis
Mendeliome v0.6214 SIX1 Zornitza Stark Publications for gene: SIX1 were set to 15141091; 18330911; 21254961; 17637804; 29500469; 21700001; 24164807
Differences of Sex Development v0.189 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Differences of Sex Development v0.189 PAX8 Zornitza Stark Gene: pax8 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.189 PAX8 Zornitza Stark Classified gene: PAX8 as Amber List (moderate evidence)
Differences of Sex Development v0.189 PAX8 Zornitza Stark Gene: pax8 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.188 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX8 were set to 33434492
Phenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Review for gene: PAX8 was set to AMBER
Added comment: 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS.

Variants in this gene are associated with congenital hypothyroidism.
Sources: Literature
Mendeliome v0.6213 BMP7 Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Mendeliome v0.6212 BMP7 Zornitza Stark Publications for gene: BMP7 were set to 32266521; 24429398
Mendeliome v0.6211 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed publications: 32266521, 24429398, 33434492
Mendeliome v0.6211 BMP7 Zornitza Stark changed review comment from: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis

CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT.
Sources: Literature; to: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis

CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT.
Sources: Literature

PMID 33434492: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS.
Mendeliome v0.6211 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Differences of Sex Development v0.187 BMP7 Zornitza Stark Marked gene: BMP7 as ready
Differences of Sex Development v0.187 BMP7 Zornitza Stark Gene: bmp7 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.187 BMP7 Zornitza Stark gene: BMP7 was added
gene: BMP7 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 33434492
Phenotypes for gene: BMP7 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Review for gene: BMP7 was set to RED
Added comment: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS.
Sources: Literature
Mendeliome v0.6211 BMP7 Zornitza Stark Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.6210 BMP7 Zornitza Stark edited their review of gene: BMP7: Changed phenotypes: Non-syndromic metopic craniosynostosis, Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.6210 SIX1 Arina Puzriakova reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33436522; Phenotypes: Sagittal synostosis, Multi-suture synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Marked gene: GLDC as ready
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Gene: gldc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Classified gene: GLDC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Gene: gldc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.162 GLDC Bryony Thompson gene: GLDC was added
gene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDC were set to 27604308; 2246863; 1634607
Phenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism
Review for gene: GLDC was set to GREEN
gene: GLDC was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glycine encephalopathy is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Marked gene: GK as ready
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Gene: gk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Classified gene: GK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Gene: gk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.160 GK Bryony Thompson gene: GK was added
gene: GK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GK were set to 27604308; 8499912; 8651297
Phenotypes for gene: GK were set to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism
Review for gene: GK was set to GREEN
gene: GK was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Isolated glycerol kinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of glycerol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Marked gene: GIF as ready
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Classified gene: GIF as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.158 GIF Bryony Thompson gene: GIF was added
gene: GIF was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 27604308; 14695536; 14576042
Phenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism
Review for gene: GIF was set to GREEN
gene: GIF was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Intrinsic factor deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Marked gene: GCLC as ready
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Gene: gclc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Classified gene: GCLC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Gene: gclc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.156 GCLC Bryony Thompson gene: GCLC was added
gene: GCLC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 27604308; 10515893; 18024385; 11118286; 10733484; 12663448
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle
Review for gene: GCLC was set to GREEN
gene: GCLC was marked as current diagnostic
Added comment: At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Marked gene: GCDH as ready
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Gene: gcdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Classified gene: GCDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Gene: gcdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.154 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 27604308; 8541831; 8900227
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670; Organic acidurias
Review for gene: GCDH was set to GREEN
gene: GCDH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutaric acidemia type I is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Marked gene: GAMT as ready
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Gene: gamt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Classified gene: GAMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Gene: gamt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.152 GAMT Bryony Thompson gene: GAMT was added
gene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 27604308; 8651275
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Review for gene: GAMT was set to GREEN
gene: GAMT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Marked gene: GALT as ready
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Classified gene: GALT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.150 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GALT were set to 27604308; 2011574
Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism
Review for gene: GALT was set to GREEN
gene: GALT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Marked gene: GALM as ready
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Gene: galm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Classified gene: GALM as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Gene: galm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.148 GALM Bryony Thompson gene: GALM was added
gene: GALM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881; Disorders of galactose metabolism
Review for gene: GALM was set to GREEN
gene: GALM was marked as current diagnostic
Added comment: 8 unrelated cases with galactosaemia and supporting in vitro assays. GALM deficiency is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Marked gene: GALK1 as ready
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Classified gene: GALK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.146 GALK1 Bryony Thompson gene: GALK1 was added
gene: GALK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALK1 were set to 27604308; 5129682
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism
Review for gene: GALK1 was set to GREEN
gene: GALK1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Galactokinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Marked gene: GALE as ready
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Classified gene: GALE as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.144 GALE Bryony Thompson gene: GALE was added
gene: GALE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 27604308; 9700591
Phenotypes for gene: GALE were set to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
Review for gene: GALE was set to GREEN
gene: GALE was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). GALE deficiency is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Marked gene: FTCD as ready
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Classified gene: FTCD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.142 FTCD Bryony Thompson gene: FTCD was added
gene: FTCD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 27604308; 12815595
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: FTCD was set to GREEN
gene: FTCD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Mackenzie's Mission_Reproductive Carrier Screening v0.50 RPL10 Sarah Righetti reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 16940977, 21567917, 23871722; Phenotypes: {Autism, susceptibility to, X-linked 5}, MIM #300847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Marked gene: FMO3 as ready
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Gene: fmo3 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Classified gene: FMO3 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Gene: fmo3 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.140 FMO3 Bryony Thompson gene: FMO3 was added
gene: FMO3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMO3 were set to 27604308; 9536088
Phenotypes for gene: FMO3 were set to Trimethylaminuria MIM#602079; Disorders and variants of other enzymes that oxidise xenobiotics
Review for gene: FMO3 was set to GREEN
gene: FMO3 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Trimethylaminuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of the metabolism of xenobiotics.
Sources: NHS GMS
Mackenzie's Mission_Reproductive Carrier Screening v0.50 ACSF3 Sarah Righetti reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 2682711, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.80 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.80 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.80 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.80 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.79 WBP11 Zornitza Stark gene: WBP11 was added
gene: WBP11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Mendeliome v0.6210 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Mendeliome v0.6210 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Mendeliome v0.6210 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Mendeliome v0.6210 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3433 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Intellectual disability syndromic and non-syndromic v0.3433 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3433 PRUNE1 Zornitza Stark Phenotypes for gene: PRUNE1 were changed from to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481
Intellectual disability syndromic and non-syndromic v0.3432 PRUNE1 Zornitza Stark Publications for gene: PRUNE1 were set to
Intellectual disability syndromic and non-syndromic v0.3431 PRUNE1 Zornitza Stark Mode of inheritance for gene: PRUNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3430 PRUNE1 Zornitza Stark reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 28334956, 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence)
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.21 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 27604308; 16964263
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693; Disorder of iron metabolism
Review for gene: ATP13A2 was set to GREEN
gene: ATP13A2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). ATP13A2 deficiency causes a neurodegeneration with brain iron accumulation disorder, which is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Marked gene: WDR45 as ready
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Classified gene: WDR45 as Green List (high evidence)
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.19 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: WDR45 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: WDR45 were set to 27604308; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894; Beta-propeller protein-associated neurodegeneration; Disorder of iron metabolism
Review for gene: WDR45 was set to GREEN
gene: WDR45 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). NBIA is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Marked gene: FA2H as ready
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Classified gene: FA2H as Green List (high evidence)
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.17 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 27604308; 18463364; 19068277; 20104589; 20853438
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319; Fatty acid hydroxylase-associated neurodegeneration; Disorder of iron metabolism
Review for gene: FA2H was set to GREEN
gene: FA2H was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). FA2H deficiency can cause neurodegeneration with brain iron accumulation, which is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Marked gene: C19orf12 as ready
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Gene: c19orf12 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Classified gene: C19orf12 as Green List (high evidence)
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Gene: c19orf12 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.15 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 27604308; 21981780
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4 MIM#614298; Disorder of iron metabolism
Review for gene: C19orf12 was set to GREEN
gene: C19orf12 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). NBIA4 is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.13 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 27604308; 16783378
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Disorder of iron metabolism
Review for gene: PLA2G6 was set to GREEN
gene: PLA2G6 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PLA2G6 deficiency is considered an inborn error of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.11 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27604308; 11479594
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200; Disorder of iron metabolism
Review for gene: PANK2 was set to GREEN
gene: PANK2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PANK2 deficiency is considered an inborn error of iron metabolism.
Sources: Literature
Miscellaneous Metabolic Disorders v0.139 AMN Bryony Thompson Publications for gene: AMN were set to 12590260
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson edited their review of gene: AMN: Changed publications: 12590260, 27604308
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Marked gene: AMN as ready
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Classified gene: AMN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.137 AMN Bryony Thompson gene: AMN was added
gene: AMN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260
Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism
Review for gene: AMN was set to GREEN
gene: AMN was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). AMN-related intrinsic factor receptor deficiency (Imerslund-Grasbeck syndrome) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Marked gene: ADAR as ready
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Classified gene: ADAR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.135 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 27604308
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 MIM#615010; Disorders of nucleotide metabolism
Review for gene: ADAR was set to GREEN
gene: ADAR was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Aicardi-Goutieres syndrome is considered a disorder of nucleotide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Marked gene: EPG5 as ready
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Classified gene: EPG5 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.133 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 26715604
Phenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy
Review for gene: EPG5 was set to GREEN
gene: EPG5 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism.
Sources: NHS GMS
Microcephaly v0.521 PRUNE1 Zornitza Stark Publications for gene: PRUNE1 were set to 26539891; 28334956
Microcephaly v0.520 PRUNE1 Zornitza Stark edited their review of gene: PRUNE1: Added comment: Further clinical analysis of previously reported patients and functional analysis of some of the variants in PMID:33105479 - Nistala et al 2020 - detailed phenotypic analysis of a previously reported family (SZ51, Karaca et al 2015) plus detailed literature and clinical review of all 35 NMIHBA patients reported to date. They also characterized 4 variants (p.D30N, p.D106N, p.R128Q and p.G174*) within the conserved N-terminal domain. Wild type or mutant proteins were transfected into HEK293 cells. Cells showed either no protein expression (p.G174*) or loss of PRUNE1 function due to impaired protein stability or loss of enzymatic function (3 missense variants). Prune1−/− mice show midgestational lethality, associated with changes in embryonic growth and vascular development.; Changed publications: 26539891, 28334956, 33105479; Changed phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481
Mendeliome v0.6209 PRUNE1 Zornitza Stark Publications for gene: PRUNE1 were set to 26539891; 28334956
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Marked gene: DPYS as ready
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Gene: dpys has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Classified gene: DPYS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Gene: dpys has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.131 DPYS Bryony Thompson edited their review of gene: DPYS: Changed publications: 9718352
Miscellaneous Metabolic Disorders v0.131 DPYS Bryony Thompson gene: DPYS was added
gene: DPYS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism
Review for gene: DPYS was set to GREEN
gene: DPYS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidinuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Marked gene: DPYD as ready
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Classified gene: DPYD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.129 DPYD Bryony Thompson gene: DPYD was added
gene: DPYD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYD were set to 8051923
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism
Review for gene: DPYD was set to GREEN
gene: DPYD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidine dehydrogenase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Deafness_IsolatedAndComplex v1.50 CLRN2 Zornitza Stark Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM# 619174
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark edited their review of gene: CLRN2: Changed phenotypes: Non-syndromic hearing loss, Deafness, autosomal recessive 117, MIM# 619174
Mendeliome v0.6208 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Mendeliome v0.6208 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6208 CLRN2 Zornitza Stark Phenotypes for gene: CLRN2 were changed from Non-syndromic hearing loss to Non-syndromic hearing loss; Deafness, autosomal recessive 117, MIM# 619174
Mendeliome v0.6207 EGFR Eleanor Williams changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Mendeliome v0.6207 EGFR Eleanor Williams reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: 33326033; Phenotypes: Adrenocortical carcinoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6207 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Mendeliome v0.6207 PRUNE1 Eleanor Williams reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Marked gene: GNAS as ready
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.28 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism) to Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)
Congenital hypothyroidism v0.27 GNAS Zornitza Stark Publications for gene: GNAS were set to 27922245; 17299070; 23412865
Congenital hypothyroidism v0.26 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27467896; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.26 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
Congenital hypothyroidism v0.25 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to 26259131; 16715098
Congenital hypothyroidism v0.24 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26259131, 16715098, 30555422, 28253873; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.24 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 to Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
Congenital hypothyroidism v0.23 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)
Congenital hypothyroidism v0.22 FOXE1 Zornitza Stark reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28928994, 28455095, 9697705], 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.22 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Mendeliome v0.6207 TTF2 Zornitza Stark Marked gene: TTF2 as ready
Mendeliome v0.6207 TTF2 Zornitza Stark Gene: ttf2 has been classified as Red List (Low Evidence).
Mendeliome v0.6207 TTF2 Zornitza Stark gene: TTF2 was added
gene: TTF2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF2 were set to 30022773
Phenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF2 was set to RED
Added comment: 1 case only
Sources: Expert Review
Congenital hypothyroidism v0.21 TTF2 Zornitza Stark Marked gene: TTF2 as ready
Congenital hypothyroidism v0.21 TTF2 Zornitza Stark Gene: ttf2 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.21 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Congenital hypothyroidism v0.21 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6206 DUOXA1 Zornitza Stark Marked gene: DUOXA1 as ready
Mendeliome v0.6206 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6206 DUOXA1 Zornitza Stark Classified gene: DUOXA1 as Amber List (moderate evidence)
Mendeliome v0.6206 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6205 DUOXA1 Zornitza Stark gene: DUOXA1 was added
gene: DUOXA1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: 12 cases, but digenic model with variants in other genes
Sources: Expert Review
Congenital hypothyroidism v0.21 DUOXA1 Zornitza Stark Marked gene: DUOXA1 as ready
Congenital hypothyroidism v0.21 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6204 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6204 DUOX1 Zornitza Stark Classified gene: DUOX1 as Amber List (moderate evidence)
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6203 DUOX1 Zornitza Stark gene: DUOX1 was added
gene: DUOX1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to 29650690
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOX1 was set to AMBER
Added comment: 11 cases, but digenic model, with variants in other genes.
Sources: Expert Review
Congenital hypothyroidism v0.21 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Congenital hypothyroidism v0.21 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6202 TTF1 Zornitza Stark Marked gene: TTF1 as ready
Mendeliome v0.6202 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6202 TTF1 Zornitza Stark Phenotypes for gene: TTF1 were changed from to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Mendeliome v0.6201 TTF1 Zornitza Stark Publications for gene: TTF1 were set to
Mendeliome v0.6200 TTF1 Zornitza Stark Mode of inheritance for gene: TTF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6199 TTF1 Zornitza Stark Classified gene: TTF1 as Amber List (moderate evidence)
Mendeliome v0.6199 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6198 TTF1 Zornitza Stark reviewed gene: TTF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30022773; Phenotypes: congenital hypothyroidism, thyroid dysgenesis, No OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Marked gene: TTF1 as ready
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Added comment: Comment when marking as ready: Targeted sequencing panel study.
Congenital hypothyroidism v0.21 TTF1 Zornitza Stark Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Added comment: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.21 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Congenital hypothyroidism v0.20 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to 30446499
Congenital hypothyroidism v0.19 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Congenital hypothyroidism v0.19 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Mendeliome v0.6198 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Mendeliome v0.6198 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Mendeliome v0.6198 CDCA8 Zornitza Stark Classified gene: CDCA8 as Green List (high evidence)
Mendeliome v0.6198 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Mendeliome v0.6197 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
Mode of pathogenicity for gene: CDCA8 was set to Other
Review for gene: CDCA8 was set to GREEN
Added comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic.
Sources: Expert Review
Congenital hypothyroidism v0.19 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Congenital hypothyroidism v0.19 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.19 TTF2 Chirag Patel gene: TTF2 was added
gene: TTF2 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: TTF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF2 were set to PMID: 30022773
Phenotypes for gene: TTF2 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF2 was set to RED
Added comment: 1 case only
Sources: Literature
Congenital hypothyroidism v0.18 GATA6 Chirag Patel Classified gene: GATA6 as Amber List (moderate evidence)
Congenital hypothyroidism v0.18 GATA6 Chirag Patel Gene: gata6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.17 GATA6 Chirag Patel gene: GATA6 was added
gene: GATA6 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA6 were set to PMID: 31271559, 32207556
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, OMIM# 600001
Review for gene: GATA6 was set to AMBER
Added comment: 2 cases with congenital hypothyroidism so expansion of phenotype
Sources: Literature
Congenital hypothyroidism v0.16 DUOXA1 Chirag Patel Classified gene: DUOXA1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.16 DUOXA1 Chirag Patel Gene: duoxa1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.15 DUOXA1 Chirag Patel gene: DUOXA1 was added
gene: DUOXA1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to PMID: 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: 12 cases, but digenic model with variants in other genes
Sources: Literature
Congenital hypothyroidism v0.14 DUOX1 Chirag Patel Classified gene: DUOX1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.14 DUOX1 Chirag Patel Gene: duox1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.13 DUOX1 Chirag Patel gene: DUOX1 was added
gene: DUOX1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to PMID: 29650690
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Added comment: 11 cases, but digenic model, with variants in other genes
Sources: Literature
Congenital hypothyroidism v0.12 TTF1 Chirag Patel Classified gene: TTF1 as Amber List (moderate evidence)
Congenital hypothyroidism v0.12 TTF1 Chirag Patel Gene: ttf1 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.11 TTF1 Chirag Patel gene: TTF1 was added
gene: TTF1 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: TTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTF1 were set to PMID: 30022773
Phenotypes for gene: TTF1 were set to congenital hypothyroidism, thyroid dysgenesis, No OMIM #
Review for gene: TTF1 was set to AMBER
Added comment: 5 cases, but one paper with limited additional evidence
Sources: Literature
Congenital hypothyroidism v0.10 TUBB1 Chirag Patel Classified gene: TUBB1 as Green List (high evidence)
Congenital hypothyroidism v0.10 TUBB1 Chirag Patel Gene: tubb1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.9 TUBB1 Chirag Patel reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30446499, 31642429; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v0.9 NKX2-5 Chirag Patel Classified gene: NKX2-5 as Green List (high evidence)
Congenital hypothyroidism v0.9 NKX2-5 Chirag Patel Gene: nkx2-5 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.8 NKX2-5 Chirag Patel reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16418214, 28749785, 27373559, 30022773; Phenotypes: Hypothyroidism, congenital nongoitrous, 5, OMIM # 225250, thyrioid ectopy, thyroid agenesis, congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v0.8 CDCA8 Chirag Patel Classified gene: CDCA8 as Green List (high evidence)
Congenital hypothyroidism v0.8 CDCA8 Chirag Patel Gene: cdca8 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.7 CDCA8 Chirag Patel reviewed gene: CDCA8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28025328, 29546359; Phenotypes: Congenital hypothyroidism, thyroid dysgenesis, no OMIM #; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.6 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.5 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523 to Allan-Herndon-Dudley syndrome, MIM# 300523
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.4 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate to Bamforth Lazarus syndrome, 241850 (hypothyroidism); Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.3 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 to Thyroid dyshormonogenesis 5, 274900
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.2 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism to Thyroid dyshormonogenesis 6, 607200
Congenital hypothyroidism v0.1 Zornitza Stark Panel status changed from internal to public
Panel types changed to Genetic Health Queensland; Rare Disease
Congenital hypothyroidism v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red
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 15800844; 12428212; 26416826 (2015 review)
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Congenital hypothyroidism v0.0 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TUBB1 were set to 30446499
Phenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Congenital hypothyroidism v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 16418214
Phenotypes for gene: NKX2-5 were set to Hypothyroidism, congenital nongoitrous, 5, 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease
Mode of pathogenicity for gene: NKX2-5 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 CDCA8 Zornitza Stark gene: CDCA8 was added
gene: CDCA8 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism; No OMIM number; thyroid dysgenesis
Mode of pathogenicity for gene: CDCA8 was set to Other
Congenital hypothyroidism v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TSHR were set to 16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions; 22876533; 7528344; PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.; PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia
Phenotypes for gene: TSHR were set to Hypothyroidism, congenital, nongoitrous, 1 275200; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; compensated hypothryoidism; subclinical hypothyroidism; Hypothyroidism, Congenital, Nongoitrous, 1, 275200; eutopic gland-in-situ; TSH resistance
Congenital hypothyroidism v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSHB were set to 2792087; 27362444
Phenotypes for gene: TSHB were set to Congenital hypothyroidism; Hypothryoidism, congenital, nongoitrous 4, 275100; severe isolated central hypothyroidism
Congenital hypothyroidism v0.0 TRHR Zornitza Stark gene: TRHR was added
gene: TRHR was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRHR were set to PMID: 19213692; PMID: 9141550
Phenotypes for gene: TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized
Congenital hypothyroidism v0.0 TPO Zornitza Stark gene: TPO was added
gene: TPO was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 12938097; 27166716; 8964831; 11061528; 8027236; 27525530 (Nicholas et al.,2016) identify a monogenic basis of disease
Phenotypes for gene: TPO were set to Congenital hypothyroidism; Iodide organification defect; goitre; TDH2A; Thyroid dyshormonogenesis 2A, 274500
Congenital hypothyroidism v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THRB were set to 24847459
Phenotypes for gene: THRB were set to HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance, Selective Pituitary; Resistance to thyroid hormone (RTH); 145650; PRTH; REFETOFF SYNDROME; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650; THYROID HORMONE UNRESPONSIVENESS; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES; Refetoff syndrome; GRTH
Congenital hypothyroidism v0.0 THRA Zornitza Stark gene: THRA was added
gene: THRA was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THRA were set to 27144938; 22168587; 27381958; 2567082; 24847459; 23940126; 22494134
Phenotypes for gene: THRA were set to Congenital hypothyroidism or thyroid agenesis; delayed dentition; macrocephaly; Hypothyroidism, Congenital, Nongoitrous, 6, 614450; Hypothyroidism, congenital, nongoitrous, 6, 614450; neurodevelopmental delay; Resistance to thyroid hormone; constipation; skeletal dysplasia; growth retardation; macrocytic anaemia
Congenital hypothyroidism v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.; 23164529
Phenotypes for gene: TG were set to Congenital hypothyroidism; Thyroid dyshormonogenesis 3, 274700; TDH3; low thyroglobulin, goitre
Congenital hypothyroidism v0.0 TBL1X Zornitza Stark gene: TBL1X was added
gene: TBL1X was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBL1X 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: TBL1X were set to 27603907; 30591955
Phenotypes for gene: TBL1X were set to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033
Congenital hypothyroidism v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A5 were set to 9171822; 16418213
Phenotypes for gene: SLC5A5 were set to Apparent athyreosis on nuclear medicine scan; childhood onset hypothyroidism; goitre; Thyroid dyshormonogenesis 1, 274400; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
Congenital hypothyroidism v0.0 SLC26A7 Zornitza Stark gene: SLC26A7 was added
gene: SLC26A7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 30333321; 29546359
Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)
Congenital hypothyroidism v0.0 SLC26A4 Zornitza Stark gene: SLC26A4 was added
gene: SLC26A4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A4 were set to 11932316; 9398842
Phenotypes for gene: SLC26A4 were set to enlarged vestibular aqueduct; Sensorineural deafness; partial iodide organification defect; mild hypothyroidism; Pendred syndrome, 274600 (congenital deafness and thyroid goitre); goitre; Mondini defect
Congenital hypothyroidism v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 24847459
Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION AND MUSCULAR ATROPHY; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Monocarboxylate transporter 8 (MCT8) defect; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; AHDS; Allan_Herndon_Dudley Syndrome; ALLAN-HERNDON SYNDROME; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523
Congenital hypothyroidism v0.0 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 22247018; 24629861; 22986150; 19602558; 21084748
Phenotypes for gene: SECISBP2 were set to Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL
Congenital hypothyroidism v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 15126542; 16984240; 9768691; 15472175; 26416826 (2015 review); 23652424
Phenotypes for gene: PROP1 were set to Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time; GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency; Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations; Pituitary hormone deficiency, combined, 2, 262600
Congenital hypothyroidism v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 22464250; 21651393
Phenotypes for gene: PRKAR1A were set to Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones; Acrodysostosis 1, with or without hormone resistance, 101800
Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POU1F1 were set to 16060904; 11297581; 26416826
Phenotypes for gene: POU1F1 were set to congenital hypothyroidism; Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
Mode of pathogenicity for gene: POU1F1 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX8 were set to PMID:23647375; PMID:9590296
Phenotypes for gene: PAX8 were set to Hypothyroidism, Congenital, Nongoitrous, 2, 218700; thyroid dysgenesis; Congenital hypothyroidism; thyroid hypoplasia; Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700; eutopic gland-in-situ; urogenital tract malformations
Congenital hypothyroidism v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review)
Phenotypes for gene: OTX2 were set to GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986
Congenital hypothyroidism v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 11854319; 24714694
Phenotypes for gene: NKX2-1 were set to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea
Congenital hypothyroidism v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX4 were set to 25955177; 26416826 (2015 review); 11567216
Phenotypes for gene: LHX4 were set to anterior pituitary hypoplasia; GH, TSH, ACTH, variable gonadotrophin deficiencies; etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700; cerebellar abnormalities
Congenital hypothyroidism v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHX3 were set to 18407919; 10835633; 26416826 (2015 review); 21249393
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750; sensorineural deafness; GH, TSH, LH, FSH, PRL deficiency; limited neck rotation; short cervical spine; anterior pituitary may be normal, hypoplastic or enlarged
Congenital hypothyroidism v0.0 IYD Zornitza Stark gene: IYD was added
gene: IYD was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IYD were set to 24629858 (Review); 18765512; PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families; PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation
Phenotypes for gene: IYD were set to childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre
Congenital hypothyroidism v0.0 IRS4 Zornitza Stark gene: IRS4 was added
gene: IRS4 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 30061370; 10644546
Phenotypes for gene: IRS4 were set to Congenital central hypothyroidism
Congenital hypothyroidism v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGSF1 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: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia
Congenital hypothyroidism v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HESX1 were set to 9620767; 26416826 (2015 review); 11136712
Phenotypes for gene: HESX1 were set to GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism
Congenital hypothyroidism v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 27922245; 17299070; 23412865
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
Congenital hypothyroidism v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLIS3 were set to 26259131; 16715098
Phenotypes for gene: GLIS3 were set to polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
Congenital hypothyroidism v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE1 were set to 20484477; 9697705; 24219130 (gain-of-function mutation); 9697704 (mouse model)
Phenotypes for gene: FOXE1 were set to choanal atresia; congenital hypothyroidism; Bamforth Lazarus syndrome, 241850 (hypothyroidism); spiky hair; thyroid agenesis; Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850; cleft palate
Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments
Congenital hypothyroidism v0.0 DUOXA2 Zornitza Stark gene: DUOXA2 was added
gene: DUOXA2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DUOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA2 were set to 27349010; 21367925; 28100324; 26758695; 18042646
Phenotypes for gene: DUOXA2 were set to transient congenital hypothyroidism; mild congenital hypothyroidism; eutopic gland-in-situ; Thyroid dyshormonogenesis 5, 274900; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5
Congenital hypothyroidism v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to 24423310; 16134168; 27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease; 12110737; 27166716
Phenotypes for gene: DUOX2 were set to transient congenital hypothyroidism; borderline congenital hypothyroidism; iodide organification defect; Congenital hypothyroidism; Thryoid dyshormonogenesis 6, 607200; goitre; eutopic gland-in-situ; permanent congenital hypothyroidism
Congenital hypothyroidism v0.0 Zornitza Stark Added panel Congenital hypothyroidism
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Marked gene: DHODH as ready
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Classified gene: DHODH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.127 DHODH Bryony Thompson gene: DHODH was added
gene: DHODH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 19915526
Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism
Review for gene: DHODH was set to GREEN
gene: DHODH was marked as current diagnostic
Added comment: >3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Marked gene: DHCR7 as ready
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Classified gene: DHCR7 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.125 DHCR7 Bryony Thompson gene: DHCR7 was added
gene: DHCR7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 7560069; 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome MIM#270400; Disorders of sterol biosynthesis
Review for gene: DHCR7 was set to GREEN
gene: DHCR7 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Smith-Lemli-Opitz syndrome is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Marked gene: DHCR24 as ready
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Gene: dhcr24 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Classified gene: DHCR24 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Gene: dhcr24 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.123 DHCR24 Bryony Thompson gene: DHCR24 was added
gene: DHCR24 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 11519011; 21559050; 21671375
Phenotypes for gene: DHCR24 were set to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols
Review for gene: DHCR24 was set to GREEN
gene: DHCR24 was marked as current diagnostic
Added comment: At least 4 families reported. Desmosterolosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.122 CTH Bryony Thompson edited their review of gene: CTH: Changed rating: GREEN
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Classified gene: DCXR as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Added comment: Comment on list classification: Clinically benign condition
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Gene: dcxr has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.121 DCXR Bryony Thompson gene: DCXR was added
gene: DCXR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 22042873
Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism
Review for gene: DCXR was set to GREEN
Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Marked gene: CYP7B1 as ready
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Classified gene: CYP7B1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.119 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 9802883; 18252231; 31337596
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis
Review for gene: CYP7B1 was set to GREEN
gene: CYP7B1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). CYP7B1 deficiency can cause an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Marked gene: CYP27A1 as ready
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.117 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 2019602
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Review for gene: CYP27A1 was set to GREEN
gene: CYP27A1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Marked gene: CUBN as ready
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Classified gene: CUBN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.115 CUBN Bryony Thompson gene: CUBN was added
gene: CUBN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 10080186; 31613795
Phenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Review for gene: CUBN was set to GREEN
gene: CUBN was marked as current diagnostic
Added comment: Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Marked gene: CTSC as ready
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Classified gene: CTSC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.113 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 10581027
Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Well-established gene-disease associations (see OMIM entry). HMS and PLS are classified as metabolic disorders by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders).
Sources: NHS GMS
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Marked gene: CTSC as ready
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Classified gene: CTSC as Green List (high evidence)
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.25 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Ectodermal Dysplasia. Sources: Other
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 10581027
Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM). Ectodermal dysplasia (involving skin and teeth) is a feature of the conditions caused by biallelic variants in this gene.
Sources: Other
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Marked gene: CTH as ready
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Gene: cth has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Classified gene: CTH as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Added comment: Comment on list classification: Likely a benign biochemical anomaly not associated with disease
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Gene: cth has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.111 CTH Bryony Thompson gene: CTH was added
gene: CTH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTH were set to 12574942; 20584029; 24761004; 15151507
Phenotypes for gene: CTH were set to Cystathioninuria MIM#219500
Review for gene: CTH was set to RED
Added comment: >3 cases reported with cystathioninuria with no striking pathologic features. Due to inconsistency and wide variety of disease associations, it is considered to be a benign biochemical anomaly. Null mouse model demonstrates homocysteinemia/cystathioninemia but develop with no apparent abnormality.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Marked gene: CBS as ready
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Classified gene: CBS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.109 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 7967489
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism
Review for gene: CBS was set to GREEN
gene: CBS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Homocystinuria due to CBS deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Marked gene: ABCB4 as ready
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Classified gene: ABCB4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.107 ABCB4 Bryony Thompson gene: ABCB4 was added
gene: ABCB4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 8666348
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Review for gene: ABCB4 was set to GREEN
gene: ABCB4 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PFIC3 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB4 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Marked gene: ABCB11 as ready
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Classified gene: ABCB11 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.105 ABCB11 Bryony Thompson gene: ABCB11 was added
gene: ABCB11 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 MIM#601847; disorder of bile acid metabolism
Review for gene: ABCB11 was set to GREEN
gene: ABCB11 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PFIC2 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB11 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Optic Atrophy v0.124 DNAJC30 Zornitza Stark gene: DNAJC30 was added
gene: DNAJC30 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence.
Sources: Literature
Mendeliome v0.6196 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Mendeliome v0.6196 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mendeliome v0.6196 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Mendeliome v0.6196 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mendeliome v0.6195 DNAJC30 Zornitza Stark gene: DNAJC30 was added
gene: DNAJC30 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence.
Sources: Literature
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.575 DNAJC30 John Christodoulou gene: DNAJC30 was added
gene: DNAJC30 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to PMID: 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Penetrance for gene: DNAJC30 were set to Incomplete
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases0.
All three variants not seen in gnomAD.
Interestingly - incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations!
All 3 variants in the J domain of the protein.
Good functional evidence also provided
This is the first nuclear encoded phenocopy of mtLHON.
Sources: Literature
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Marked gene: STS as ready
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Classified gene: STS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.103 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Miscellaneous Metabolic Disorders v0.103 STS Zornitza Stark gene: STS was added
gene: STS was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Review for gene: STS was set to GREEN
Added comment: Well established gene-disease association. CNVs common.
Sources: Expert list
Mendeliome v0.6194 NFS1 Zornitza Stark Classified gene: NFS1 as Green List (high evidence)
Mendeliome v0.6194 NFS1 Zornitza Stark Gene: nfs1 has been classified as Green List (High Evidence).
Mendeliome v0.6193 NFS1 Zornitza Stark edited their review of gene: NFS1: Added comment: Second paper reporting another family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications: 24498631, 33457206
Mitochondrial disease v0.575 NFS1 Zornitza Stark Classified gene: NFS1 as Green List (high evidence)
Mitochondrial disease v0.575 NFS1 Zornitza Stark Gene: nfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.574 NFS1 John Christodoulou changed review comment from: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.; to: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.
Mitochondrial disease v0.574 NFS1 John Christodoulou reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33457206; Phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Marked gene: ATP8B1 as ready
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Classified gene: ATP8B1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.101 ATP8B1 Bryony Thompson gene: ATP8B1 was added
gene: ATP8B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 9500542
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism
Review for gene: ATP8B1 was set to GREEN
Added comment: Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.3430 TRIM8 Zornitza Stark Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Intellectual disability; Seizures; FSGS
Intellectual disability syndromic and non-syndromic v0.3429 TRIM8 Zornitza Stark Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Intellectual disability syndromic and non-syndromic v0.3428 TRIM8 Zornitza Stark edited their review of gene: TRIM8: Added comment: Further 10 families reported.; Changed publications: 30244534, 27346735, 23934111, 33508234; Changed phenotypes: Intellectual disability, Seizures, FSGS
Genetic Epilepsy v0.1020 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Genetic Epilepsy v0.1020 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1020 PCDH19 Zornitza Stark Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment
Genetic Epilepsy v0.1019 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to 18469813; 30287595
Genetic Epilepsy v0.1019 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to
Genetic Epilepsy v0.1018 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Unknown to Other
Genetic Epilepsy v0.1017 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: 18469813, 30287595; Phenotypes: Epileptic encephalopathy, early infantile, 9 300088, PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: Other
Mendeliome v0.6193 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Mendeliome v0.6192 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other
Genetic Epilepsy v0.1017 SLC7A6OS Zornitza Stark Marked gene: SLC7A6OS as ready
Genetic Epilepsy v0.1017 SLC7A6OS Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1017 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Mendeliome v0.6192 SLC7A6OS Zornitza Stark Marked gene: SLC7A6OS as ready
Mendeliome v0.6192 SLC7A6OS Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence).
Mendeliome v0.6192 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark Marked gene: SLC7A6OS as ready
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark Gene: slc7a6os has been classified as Red List (Low Evidence).
Progressive Myoclonic Epilepsy v0.9 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Progressive Myoclonic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Combined Immunodeficiency v0.173 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.172 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Combined Immunodeficiency. Sources: Literature
somatic tags were added to gene: TLR8.
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.173 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Bone Marrow Failure. Sources: Literature
somatic tags were added to gene: TLR8.
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Mendeliome v0.6191 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Mendeliome v0.6191 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Mendeliome v0.6191 TLR8 Zornitza Stark Tag somatic tag was added to gene: TLR8.
Mendeliome v0.6191 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Mendeliome v0.6191 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Mendeliome v0.6190 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3428 PIGF Zornitza Stark Marked gene: PIGF as ready
Intellectual disability syndromic and non-syndromic v0.3428 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3428 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3428 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Marked gene: PIGF as ready
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Mendeliome v0.6189 PIGF Zornitza Stark Marked gene: PIGF as ready
Mendeliome v0.6189 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Mendeliome v0.6189 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Mendeliome v0.6189 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Classified gene: BRWD1 as Green List (high evidence)
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.3 BRWD1 Zornitza Stark gene: BRWD1 was added
gene: BRWD1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia
Review for gene: BRWD1 was set to GREEN
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Literature
Mendeliome v0.6188 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Mendeliome v0.6188 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Mendeliome v0.6188 BRWD1 Zornitza Stark Classified gene: BRWD1 as Green List (high evidence)
Mendeliome v0.6188 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness - only one of the two had seizures (GTCS), the other was 14mo and noted to have tonic posturing.

Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated by flow cytometry and a rescue assay. Alkaline phosphatase in both individuals was normal.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3427 PIGF Paul De Fazio gene: PIGF was added
gene: PIGF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
gene: PIGF was marked as current diagnostic
Added comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Congenital Disorders of Glycosylation v1.6 PIGF Paul De Fazio gene: PIGF was added
gene: PIGF was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
gene: PIGF was marked as current diagnostic
Added comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio edited their review of gene: PIGF: Changed phenotypes: Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature; to: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio changed review comment from: Identified in 2 individuals with a phenotype similar to DOORS (syndrome
Sources: Literature; to: The same missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Mendeliome v0.6187 PIGF Paul De Fazio gene: PIGF was added
gene: PIGF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol\ deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
gene: PIGF was marked as current diagnostic
Added comment: Identified in 2 individuals with a phenotype similar to DOORS (syndrome
Sources: Literature
Mendeliome v0.6187 BRWD1 Paul De Fazio gene: BRWD1 was added
gene: BRWD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Asthenoteratozoospermia, likely primary ciliary dyskinesia
Review for gene: BRWD1 was set to GREEN
gene: BRWD1 was marked as current diagnostic
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-likely" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).

Rated Green as there are three unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3427 HIRA Zornitza Stark Marked gene: HIRA as ready
Intellectual disability syndromic and non-syndromic v0.3427 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3427 HIRA Zornitza Stark Classified gene: HIRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3427 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Mendeliome v0.6187 HIRA Zornitza Stark Marked gene: HIRA as ready
Mendeliome v0.6187 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Mendeliome v0.6187 HIRA Zornitza Stark Classified gene: HIRA as Green List (high evidence)
Mendeliome v0.6187 HIRA Zornitza Stark Gene: hira has been classified as Green List (High Evidence).
Mendeliome v0.6186 EYA3 Zornitza Stark Marked gene: EYA3 as ready
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Mendeliome v0.6186 EYA3 Zornitza Stark Classified gene: EYA3 as Red List (low evidence)
Mendeliome v0.6186 EYA3 Zornitza Stark Gene: eya3 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Marked gene: CLRN2 as ready
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.49 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.48 CLRN2 Zornitza Stark gene: CLRN2 was added
gene: CLRN2 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon. Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function. Rated Amber due to supporting functional studies in mice.
Sources: Literature
Mendeliome v0.6185 CLRN2 Zornitza Stark Classified gene: CLRN2 as Amber List (moderate evidence)
Mendeliome v0.6185 CLRN2 Zornitza Stark Gene: clrn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3426 HIRA Paul De Fazio gene: HIRA was added
gene: HIRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 28135719; 25363760
Phenotypes for gene: HIRA were set to Neurodevelopmental disorder
Review for gene: HIRA was set to GREEN
gene: HIRA was marked as current diagnostic
Added comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:

Individual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.
Individual 2: canonical splice variant, phenotype mostly confined to ASD

Another two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).

PMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.

Rated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region.
Sources: Literature
Mendeliome v0.6184 HIRA Paul De Fazio gene: HIRA was added
gene: HIRA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 28135719; 25363760
Phenotypes for gene: HIRA were set to Neurodevelopmental disorder
Review for gene: HIRA was set to GREEN
gene: HIRA was marked as current diagnostic
Added comment: Two unrelated patients with different de novo loss of function variants identified in PMID 33417013:

Individual 1: intragenic deletion, phenotype included psychomotor retardation, ID, growth retardation, microcephaly, and facial features reminiscent of 22q deletion syndrome.
Individual 2: canonical splice variant, phenotype mostly confined to ASD

Another two de novo variants were identified in the literature by the authors of that paper, one stop-gain (DDD study, PMID 28135719) and one missense (large autism cohort, PMID 25363760).

PMID 33417013 also showed that HIRA knockdown in mice results in neurodevelopmental abnormalities.

Rated Green due to 4 unrelated individuals (albeit 2 in large cohort studies) and a mouse model. NB: HIRA is within the common 22q deletion region.
Sources: Literature
Mendeliome v0.6184 POLR3B Zornitza Stark changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy.
Mendeliome v0.6184 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Mendeliome v0.6184 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Mendeliome v0.6184 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Mendeliome v0.6183 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Mendeliome v0.6182 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.104 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy
Hereditary Neuropathy v0.103 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Classified gene: POLR3B as Green List (high evidence)
Hereditary Neuropathy v0.102 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Mendeliome v0.6181 CFAP47 Zornitza Stark edited their review of gene: CFAP47: Changed rating: GREEN
Mendeliome v0.6181 CFAP47 Zornitza Stark Marked gene: CFAP47 as ready
Mendeliome v0.6181 CFAP47 Zornitza Stark Added comment: Comment when marking as ready: 3-4 unrelated individuals and animal model.
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Mendeliome v0.6181 CFAP47 Zornitza Stark Classified gene: CFAP47 as Green List (high evidence)
Mendeliome v0.6181 CFAP47 Zornitza Stark Gene: cfap47 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Classified gene: C14orf39 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6180 C14orf39 Zornitza Stark Classified gene: C14orf39 as Green List (high evidence)
Mendeliome v0.6180 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence).
Mendeliome v0.6179 EYA3 Paul De Fazio gene: EYA3 was added
gene: EYA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EYA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EYA3 were set to 33475861
Phenotypes for gene: EYA3 were set to Oculo-auriculo-vertebral spectrum (OAVS)
Review for gene: EYA3 was set to RED
gene: EYA3 was marked as current diagnostic
Added comment: 3 individuals with OAVS from two unrelated families with the same missense variant, p.(Asn358Ser). Variant has 20 heterozygotes in gnomAD. Unaffected carriers in both families were also identified - unknown if incomplete penetrance or nonsegregation.

Functional studies indicate the variant increases protein half life, and gene knockdown in zebrafish had an effect on craniofacial development.

Rated Red due to both families sharing the variant and uncertainty about incomplete penetrance versus nonsegregation.
Sources: Literature
Ataxia v0.272 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Ataxia v0.272 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Ataxia v0.272 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia
Ataxia v0.271 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Ataxia v0.271 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1016 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Epilepsy; Microcephaly; Regression
Genetic Epilepsy v0.1015 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Genetic Epilepsy v0.1015 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.234 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Regression v0.234 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.234 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression
Regression v0.233 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Regression v0.233 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Cataract v0.262 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Cataract v0.261 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Cataract v0.260 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Gene: naa15 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.48 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM# 617787; cardiomyopathy
Cardiomyopathy_Paediatric v0.47 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from to Intellectual disability; cardiomyopathy
Cardiomyopathy_Paediatric v0.46 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Cardiomyopathy_Paediatric v0.45 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.44 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6179 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Mendeliome v0.6179 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Mendeliome v0.6179 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Ataxia v0.270 KCNN2 Zornitza Stark Marked gene: KCNN2 as ready
Ataxia v0.270 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia v0.270 KCNN2 Zornitza Stark Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia
Ataxia v0.269 KCNN2 Zornitza Stark Classified gene: KCNN2 as Green List (high evidence)
Ataxia v0.269 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Callosome v0.249 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability
Callosome v0.248 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.52 FST Zornitza Stark Marked gene: FST as ready
Clefting disorders v0.52 FST Zornitza Stark Gene: fst has been classified as Red List (Low Evidence).
Clefting disorders v0.52 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Clefting disorders v0.52 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Clefting disorders v0.52 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Cleft palate to Bamforth-Lazarus syndrome, OMIM #241850
Clefting disorders v0.51 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Clefting disorders v0.50 FOXE1 Zornitza Stark Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.49 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Clefting disorders v0.49 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.48 GDF11 Zornitza Stark reviewed gene: GDF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Clefting disorders v0.48 GDF11 Zornitza Stark Marked gene: GDF11 as ready
Clefting disorders v0.48 GDF11 Zornitza Stark Gene: gdf11 has been classified as Red List (Low Evidence).
Clefting disorders v0.48 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Clefting disorders v0.48 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Red List (Low Evidence).
Clefting disorders v0.48 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from Cleft palate to Auriculocondylar syndrome 1, OMIM #602483
Clefting disorders v0.47 GNAI3 Zornitza Stark Publications for gene: GNAI3 were set to
Clefting disorders v0.46 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.45 HOXA2 Zornitza Stark Marked gene: HOXA2 as ready
Clefting disorders v0.45 HOXA2 Zornitza Stark Gene: hoxa2 has been classified as Red List (Low Evidence).
Clefting disorders v0.45 HOXA2 Zornitza Stark Mode of inheritance for gene: HOXA2 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
Clefting disorders v0.44 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Clefting disorders v0.44 KAT5 Zornitza Stark Gene: kat5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Clefting disorders v0.44 LRP6 Zornitza Stark Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Clefting disorders v0.44 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.44 MED13L Zornitza Stark Marked gene: MED13L as ready
Clefting disorders v0.44 MED13L Zornitza Stark Gene: med13l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6178 HEY2 Zornitza Stark gene: HEY2 was added
gene: HEY2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.87 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Congenital Heart Defect v0.87 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Mendeliome v0.6177 FGF9 Zornitza Stark edited their review of gene: FGF9: Changed phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis
Mendeliome v0.6177 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Mendeliome v0.6177 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Mendeliome v0.6177 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis
Mendeliome v0.6176 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Mendeliome v0.6175 FGF9 Zornitza Stark Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6174 FGF9 Zornitza Stark reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.80 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from ?Multiple synostoses syndrome type 3 612961 to Multiple synostoses syndrome type 3 612961
Skeletal dysplasia v0.79 FGF9 Zornitza Stark Publications for gene: FGF9 were set to 19589401
Mendeliome v0.6174 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Mendeliome v0.6174 OTUD5 Zornitza Stark Gene: otud5 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Marked gene: BTD as ready
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Classified gene: BTD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.99 BTD Bryony Thompson gene: BTD was added
gene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 7550325
Phenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism
Review for gene: BTD was set to GREEN
gene: BTD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism.
Sources: NHS GMS
Mendeliome v0.6174 OTUD5 Zornitza Stark gene: OTUD5 was added
gene: OTUD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077
Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality
Review for gene: OTUD5 was set to RED
Added comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Marked gene: BCKDK as ready
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Classified gene: BCKDK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.97 BCKDK Bryony Thompson gene: BCKDK was added
gene: BCKDK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to 22956686; 24449431
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism
Review for gene: BCKDK was set to GREEN
Added comment: 5 unrelated families with homozygous variants and supporting functional assays on patient-derived cells.
Sources: NHS GMS
Genetic Epilepsy v0.1014 CCDC186 Zornitza Stark Marked gene: CCDC186 as ready
Genetic Epilepsy v0.1014 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3426 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Intellectual disability syndromic and non-syndromic v0.3426 OTUD5 Zornitza Stark Gene: otud5 has been classified as Red List (Low Evidence).
Mendeliome v0.6173 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6173 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Mendeliome v0.6173 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Mendeliome v0.6172 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Mendeliome v0.6172 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 14755340, 25653144, 31177572
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed publications: 14755340, 25653144, 31177572
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 31177572
Mendeliome v0.6172 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Classified gene: BCAT2 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.94 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Marked gene: BAAT as ready
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Classified gene: BAAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.92 BAAT Bryony Thompson gene: BAAT was added
gene: BAAT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAAT were set to 12704386; 23415802
Phenotypes for gene: BAAT were set to Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism
Review for gene: BAAT was set to GREEN
gene: BAAT was marked as current diagnostic
Added comment: PMID: 12704386 - A homozygous missense (M76V) was identified 5 cases from 3 families that were all of Lancaster County Old Order Amish descent. The variant was associated with lower levels of conjugation in a dose-dependent fashion, and homozygote individuals had no amino acid–conjugated bile acids.
PMID: 23415802 - 7 cases with homozygous variants from 4 unrelated families with features of a genetic defect in bile acid conjugation.
Sources: NHS GMS
Mendeliome v0.6171 CLRN2 Paul De Fazio gene: CLRN2 was added
gene: CLRN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLRN2 were set to 33496845
Phenotypes for gene: CLRN2 were set to Non-syndromic hearing loss
Review for gene: CLRN2 was set to AMBER
gene: CLRN2 was marked as current diagnostic
Added comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon.

Functional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.

Rated Amber due to supporting functional studies in mice.
Sources: Literature
Mendeliome v0.6171 POLR3B Elena Savva reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33417887, 22036171, 22036172; Phenotypes: Ataxia, spasticity, and demyelinating neuropathy, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.101 POLR3B Elena Savva gene: POLR3B was added
gene: POLR3B was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to PMID: 33417887
Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Review for gene: POLR3B was set to GREEN
Added comment: PMID: 33417887: Six unrelated individuals with de novo missense variants.
Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.
Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Marked gene: METAP1 as ready
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6171 CFAP47 Hazel Phillimore gene: CFAP47 was added
gene: CFAP47 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP47 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: CFAP47 were set to PMID: 33472045
Phenotypes for gene: CFAP47 were set to asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)
Review for gene: CFAP47 was set to AMBER
Added comment: CFAP47 also known as CXorf22. 3 different missense variants in 3 unrelated Chinese individuals with asthenoteratozoospermia associated with morphological abnormalities of the flagella (MMAF). Immunoblotting and immunofluorescence showed reduced levels of CFAP47 in spermatozoa in all 3 men. A separate asthenoteratozoospermia cohort showed 1 individual with CNV including whole gene deletion of CFAP47.
Mouse model (with frameshift variants generated (via CRISPR-Cas9 technology) were sterile and presented with reduced sperm motility and abnormal flagellar morphology.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Classified gene: METAP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3426 METAP1 Sebastian Lunke Gene: metap1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency
Review for gene: C14orf39 was set to AMBER
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC

PMID: 27796301
- Mouse K/O had ovarian failure
Sources: Literature
Mendeliome v0.6171 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Azoospermia; Premature ovarian insufficiency
Review for gene: C14orf39 was set to GREEN
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency)
- 2 unrelated Chinese males with azoospermia
All patients had either homozygous PTCs or splice

PMID: 27796301
Mouse K/O had azoospermia and ovarian failure
Sources: Literature
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.90 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
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 7842019; 8981948
Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism
Review for gene: ATP7A was set to GREEN
gene: ATP7A was marked as current diagnostic
Added comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.3425 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Ataxia v0.268 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Genetic Epilepsy v0.1014 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Regression v0.232 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3424 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures
Intellectual disability syndromic and non-syndromic v0.3423 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3423 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia v0.268 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3422 SATB1 Zornitza Stark Publications for gene: SATB1 were set to 33057194
Intellectual disability syndromic and non-syndromic v0.3421 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3421 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Marked gene: ATIC as ready
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Classified gene: ATIC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.88 ATIC Bryony Thompson gene: ATIC was added
gene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 15114530; 32557644
Phenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism
Review for gene: ATIC was set to GREEN
Added comment: 4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism.
Sources: NHS GMS
Mendeliome v0.6171 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental disorders to Neurodevelopmental disorder; intellectual disability; epilepsy; microcephaly
Mendeliome v0.6170 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Mendeliome v0.6170 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6170 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures
Mendeliome v0.6169 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Mendeliome v0.6169 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Mendeliome v0.6168 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Mendeliome v0.6168 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Marked gene: KCNN2 as ready
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Cataract v0.260 NSUN2 Tiong Tan Marked gene: NSUN2 as ready
Cataract v0.260 NSUN2 Tiong Tan Gene: nsun2 has been classified as Red List (Low Evidence).
Cataract v0.260 NSUN2 Tiong Tan edited their review of gene: NSUN2: Changed publications: 33084202
Genetic Epilepsy v0.1014 KCNN2 Sebastian Lunke Phenotypes for gene: KCNN2 were changed from 33242881 to Neurological Disorder; Developmental Delay; Seizures
Cataract v0.260 NSUN2 Tiong Tan gene: NSUN2 was added
gene: NSUN2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Penetrance for gene: NSUN2 were set to Complete
Review for gene: NSUN2 was set to AMBER
Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3420 METAP1 Paul De Fazio gene: METAP1 was added
gene: METAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METAP1 were set to 32764695
Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay
Review for gene: METAP1 was set to RED
gene: METAP1 was marked as current diagnostic
Added comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Genetic Epilepsy v0.1013 KCNN2 Sebastian Lunke Classified gene: KCNN2 as Green List (high evidence)
Genetic Epilepsy v0.1013 KCNN2 Sebastian Lunke Gene: kcnn2 has been classified as Green List (High Evidence).
Mendeliome v0.6167 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Mendeliome v0.6167 METAP1 Zornitza Stark Marked gene: METAP1 as ready
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Mendeliome v0.6167 METAP1 Zornitza Stark Classified gene: METAP1 as Red List (low evidence)
Mendeliome v0.6167 METAP1 Zornitza Stark Gene: metap1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3420 SATB1 Elena Savva reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338, 33057194; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6166 SATB1 Elena Savva reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33513338; Phenotypes: Neurodevelopmental disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1012 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to 33242881
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3420 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Mendeliome v0.6166 METAP1 Paul De Fazio gene: METAP1 was added
gene: METAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: METAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METAP1 were set to PMID: 32764695
Phenotypes for gene: METAP1 were set to Intellectual disability, aggression, neurodevelopmental delay
Review for gene: METAP1 was set to RED
gene: METAP1 was marked as current diagnostic
Added comment: Biallelic nonsense (NMD-predicted) variant identified in 4 sibs in a consanguineous family with dev delay. One sib had bilateral clinodactyly of her toes and her left 3rd finger, other sibs were not dysmorphic. Rated red due to single consanguineous family.
Sources: Literature
Mendeliome v0.6166 MYADML2 Zornitza Stark Marked gene: MYADML2 as ready
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6166 MYADML2 Zornitza Stark Classified gene: MYADML2 as Red List (low evidence)
Mendeliome v0.6166 MYADML2 Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 MYADML2 Zornitza Stark Tag SV/CNV tag was added to gene: MYADML2.
Mendeliome v0.6165 CCDC186 Zornitza Stark Marked gene: CCDC186 as ready
Mendeliome v0.6165 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence).
Mendeliome v0.6165 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146
Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy
Review for gene: CCDC186 was set to RED
Added comment: One individual reported with bi-allelic truncating variant and EE.
Sources: Literature
Cardiomyopathy_Paediatric v0.44 NAA15 Tiong Tan reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: ID, cardiac; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1012 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146
Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy
Review for gene: CCDC186 was set to RED
Added comment: One individual reported with bi-allelic truncating variant and EE.
Sources: Literature
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.47 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.46 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Optic Atrophy v0.123 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.123 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.122 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Marked gene: NR4A2 as ready
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Classified gene: NR4A2 as Green List (high evidence)
Early-onset Parkinson disease v0.98 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.97 NR4A2 Sebastian Lunke gene: NR4A2 was added
gene: NR4A2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 31922365
Phenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson
Review for gene: NR4A2 was set to GREEN
Added comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.

https://doi.org/10.1212/NXG.0000000000000543
https://doi.org/10.1002/mds.27982
Sources: Literature
Polymicrogyria and Schizencephaly v0.156 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Added comment: Comment on list classification: Reviewed
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.247 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.247 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.246 UBE3B Tiong Tan Marked gene: UBE3B as ready
Callosome v0.246 UBE3B Tiong Tan Gene: ube3b has been classified as Red List (Low Evidence).
Mendeliome v0.6164 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Mendeliome v0.6164 MYADML2 Paul De Fazio gene: MYADML2 was added
gene: MYADML2 was added to Mendeliome. Sources: Literature
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 Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
Review for gene: MYADML2 was set to RED
gene: MYADML2 was marked as current diagnostic
Added comment: 5 sibs from a consanguineous family identified to have biallelic deletion encompassing part of the PYCR1 gene and the coding region of the MYADML2 gene.

According to the authors: "All five affected sibs had the most common features of ARCL (autosomal recessive cutis laxa) but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found."

Phenotype may still be explained by the PYCR1 deletion alone.
Sources: Literature
Callosome v0.246 UBE3B Tiong Tan gene: UBE3B was added
gene: UBE3B was added to Callosome. Sources: Literature
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 32949109
Phenotypes for gene: UBE3B were set to Blepharophimosis; intellectual disability
Penetrance for gene: UBE3B were set to Complete
Added comment: 7 patients with UBE3B syndrome and callosal anomalies - hypoplasia and agenesis
Sources: Literature
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Marked gene: NR4A2 as ready
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Classified gene: NR4A2 as Green List (high evidence)
Dystonia and Chorea v0.168 NR4A2 Sebastian Lunke Gene: nr4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.167 NR4A2 Sebastian Lunke gene: NR4A2 was added
gene: NR4A2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 31922365
Phenotypes for gene: NR4A2 were set to Intellectual Disability; Dystonia and Early-onset Parkinson
Review for gene: NR4A2 was set to GREEN
Added comment: Three patients described to expand the known phenotype of mild ID with early adulthood onset Dystonia and Early-onset Parkinson. Three patients described in two publications, two with frameshift and one with missense, all de-novo.

https://doi.org/10.1212/NXG.0000000000000543
https://doi.org/10.1002/mds.27982
Sources: Literature
Clefting disorders v0.44 FST Chirag Patel gene: FST was added
gene: FST was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to PubMed: 31215115
Phenotypes for gene: FST were set to orofacial clefting
Review for gene: FST was set to RED
Added comment: In a cohort of 72 families with orofacial clefting, Cox et al. (2019) performed exome sequencing and identified a father and 2 daughters (family 22) with cleft lip and palate who were heterozygous for missense variant (C56Y) in FST. A highly conserved residue within the 63-residue N-terminal domain. The variant was not found in the unaffected paternal grandmother or in the gnomAD database. Classed as a VUS. Functional analysis in transfected HEK293T cells, using a stable cell line sensitive to stimulation by the FST downstream target GDF11, demonstrated that wildtype FST efficiently and completely antagonized GDF11-stimulated reporter activity. In contrast, the C56Y mutant did not significantly inhibit the stimulation of reporter activity, regardless of the amount of mutant vector transfected.
Sources: Expert list
Clefting disorders v0.43 FOXE1 Chirag Patel Classified gene: FOXE1 as Green List (high evidence)
Clefting disorders v0.43 FOXE1 Chirag Patel Gene: foxe1 has been classified as Green List (High Evidence).
Clefting disorders v0.42 FOXE1 Chirag Patel reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9697705, 12165566, 16882747; Phenotypes: Bamforth-Lazarus syndrome, OMIM #241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.42 GDF11 Chirag Patel gene: GDF11 was added
gene: GDF11 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to PubMed: 31215115
Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Review for gene: GDF11 was set to RED
Added comment: In 5 affected members over 3 generations of a family segregating vertebral hypersegmentation and orofacial anomalies, Cox et al. (2019) identified heterozygosity for a missense mutation in the GDF11 gene (R298Q) that was not found in unaffected family members or in public variant databases. Functional analysis demonstrated that the R298Q substitution prevents cleavage to the active form of the protein, resulting in loss of function.
Sources: Expert list
Clefting disorders v0.41 GNAI3 Chirag Patel reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22560091, 16114046; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.41 HOXA2 Chirag Patel reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18394579; Phenotypes: ?Microtia, hearing impairment, and cleft palate (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Clefting disorders v0.41 KAT5 Chirag Patel Classified gene: KAT5 as Amber List (moderate evidence)
Clefting disorders v0.41 KAT5 Chirag Patel Gene: kat5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.40 KAT5 Chirag Patel gene: KAT5 was added
gene: KAT5 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to PMID: 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103
Review for gene: KAT5 was set to AMBER
Added comment: In 3 unrelated patients with neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, they found 3 different de novo heterozygous missense mutations in the KAT5 gene: R53H, C369S, and S413A. Cleft LP and submucous cleft P were observed in 2/3. The mutations were found by exome sequencing and the patients were ascertained through the GeneMatcher program. None of the mutations were present in the gnomAD database. In vitro functional expression studies showed that the mutations resulted in variably decreased histone acetyltransferase (HAT) activity compared to controls.
Sources: Expert list
Clefting disorders v0.39 LRP6 Chirag Patel Classified gene: LRP6 as Amber List (moderate evidence)
Clefting disorders v0.39 LRP6 Chirag Patel Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.38 LRP6 Chirag Patel gene: LRP6 was added
gene: LRP6 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP6 were set to PMID: 29500247, 26963285
Phenotypes for gene: LRP6 were set to cleft lip; cleft palate; tooth agenesis; oligodontia
Review for gene: LRP6 was set to AMBER
Added comment: 2 unrelated patients with orofacial clefting reported in two papers with LRP6 variants (p.Cys1532fs, p.?, and p.Arg1125*). no functional data.
Sources: Expert list
Clefting disorders v0.37 LRRC32 Chirag Patel Classified gene: LRRC32 as Amber List (moderate evidence)
Clefting disorders v0.37 LRRC32 Chirag Patel Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.36 LRRC32 Chirag Patel gene: LRRC32 was added
gene: LRRC32 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to PMID: 30976112
Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Expert list
Clefting disorders v0.35 MED13L Chirag Patel reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25137640, 25712080; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects, OMIM #616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.17 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Congenital Heart Defect v0.87 HEY2 Chirag Patel gene: HEY2 was added
gene: HEY2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HEY2 were set to PMID: 32820247
Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms
Review for gene: HEY2 was set to RED
Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Skeletal dysplasia v0.78 FGF9 Chirag Patel edited their review of gene: FGF9: Added comment: Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.; Changed publications: PMID: 33140402, 28730625, 19589401, 33174625
Skeletal dysplasia v0.78 FGF9 Chirag Patel Classified gene: FGF9 as Green List (high evidence)
Skeletal dysplasia v0.78 FGF9 Chirag Patel Gene: fgf9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.77 FGF9 Chirag Patel reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33140402, 28730625, 19589401; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3420 OTUD5 Chirag Patel gene: OTUD5 was added
gene: OTUD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to PMID: 33131077
Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality
Review for gene: OTUD5 was set to RED
Added comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Mendeliome v0.6164 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Mitochondrial disease v0.574 SQOR Zornitza Stark Marked gene: SQOR as ready
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.574 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.573 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.573 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.572 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Classified gene: ALG14 as Green List (high evidence)
Genetic Epilepsy v0.1011 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1010 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 30221345; 23404334; 28733338
Phenotypes for gene: ALG14 were set to intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Review for gene: ALG14 was set to GREEN
Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.
Sources: Expert Review
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Classified gene: ANKRD11 as Green List (high evidence)
Genetic Epilepsy v0.1009 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1008 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 29565525; 30182498
Phenotypes for gene: ANKRD11 were set to KBG syndrome, MIM#148050
Review for gene: ANKRD11 was set to GREEN
Added comment: Seizures are a prominent feature in a subset of individuals with KBG syndrome.
Sources: Expert Review
Mendeliome v0.6163 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6163 HYAL2 Zornitza Stark Classified gene: HYAL2 as Amber List (moderate evidence)
Mendeliome v0.6163 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6162 HYAL2 Zornitza Stark gene: HYAL2 was added
gene: HYAL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Literature
Clefting disorders v0.35 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Clefting disorders v0.35 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.35 HYAL2 Zornitza Stark Classified gene: HYAL2 as Amber List (moderate evidence)
Clefting disorders v0.35 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.34 HYAL2 Zornitza Stark gene: HYAL2 was added
gene: HYAL2 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to AMBER
Added comment: 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies.
Sources: Expert list
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Classified gene: SLC9A3 as Amber List (moderate evidence)
Inflammatory bowel disease v0.37 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.36 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A3 were set to 26358773; 33346580
Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease
Review for gene: SLC9A3 was set to AMBER
Added comment: Described as a monogenic cause of VEOIBD. 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert Review
Mendeliome v0.6161 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Mendeliome v0.6161 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Mendeliome v0.6161 SLC6A20 Zornitza Stark Phenotypes for gene: SLC6A20 were changed from to Hyperglycinuria, MIM# 138500
Mendeliome v0.6160 SLC6A20 Zornitza Stark Publications for gene: SLC6A20 were set to
Mendeliome v0.6159 SLC6A20 Zornitza Stark Mode of inheritance for gene: SLC6A20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6158 SLC6A20 Zornitza Stark reviewed gene: SLC6A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24816252, 19033659; Phenotypes: Hyperglycinuria, MIM# 138500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v0.87 Zornitza Stark removed gene:SLC6A20 from the panel
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Classified gene: SLC6A20 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.85 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Review for gene: SLC6A20 was set to GREEN
Added comment: Renal stones.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.83 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308; 16738945
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM# 300352
Review for gene: SLC6A8 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Metabolic Disorders Superpanel v1.102 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Miscellaneous Metabolic Disorders; Rhabdomyolysis; Lysosomal Storage Disorder; Nephrolithiasis and Nephrocalcinosis; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Classified gene: SPTLC2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.81 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 27604308; 20920666
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Classified gene: SPTLC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.79 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.6158 SUOX Zornitza Stark Marked gene: SUOX as ready
Mendeliome v0.6158 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Mendeliome v0.6158 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Mendeliome v0.6157 SUOX Zornitza Stark Publications for gene: SUOX were set to
Mendeliome v0.6156 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6155 SUOX Zornitza Stark reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9428520, 15952210, 31127934; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark edited their review of gene: SUOX: Changed publications: 9428520, 15952210, 31127934; Changed phenotypes: Sulfite oxidase deficiency, MIM# 272300
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Marked gene: SUOX as ready
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.77 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 9428520; 15952210; 31127934]
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300
Review for gene: SUOX was set to GREEN
Added comment: More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Classified gene: TALDO1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.75 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency , MIM#606003
Review for gene: TALDO1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Marked gene: TAT as ready
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.73 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM# 276600
Review for gene: TAT was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Classified gene: TCN2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.71 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 19373259
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Review for gene: TCN2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Metabolic Disorders Superpanel v1.89 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Metabolic renal disease; Hypomagnesaemia; Vitamin C Pathway Disorders; Porphyria; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Metabolic Disorders Superpanel v1.88 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Miscellaneous Metabolic Disorders; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Hypomagnesaemia; Metabolic renal disease; Porphyria; Vitamin C Pathway Disorders; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Mendeliome v0.6155 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6154 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Mendeliome v0.6153 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Bone Marrow Failure v0.172 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Mendeliome v0.6153 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Intellectual disability syndromic and non-syndromic v0.3419 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Intellectual disability syndromic and non-syndromic v0.3418 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.92 PDE2A Zornitza Stark Phenotypes for gene: PDE2A were changed from Paroxysmal dyskinesia to Paroxysmal dyskinesia; Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Paroxysmal Dyskinesia v0.91 PDE2A Zornitza Stark edited their review of gene: PDE2A: Changed phenotypes: Paroxysmal dyskinesia, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150
Mendeliome v0.6153 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.6152 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.27 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Macular dystrophy, North Carolina type, MIM#136550 to Macular dystrophy, North Carolina type, MIM#136550; Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Macular Dystrophy/Stargardt Disease v0.26 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Proteinuria v0.152 NOS1AP Zornitza Stark Marked gene: NOS1AP as ready
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.152 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.151 NOS1AP Zornitza Stark gene: NOS1AP was added
gene: NOS1AP was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, MIM# 619155
Review for gene: NOS1AP was set to GREEN
Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386
Sources: Literature
Mendeliome v0.6152 NOS1AP Zornitza Stark Phenotypes for gene: NOS1AP were changed from to Nephrotic syndrome, type 22, MIM# 619155
Mendeliome v0.6151 NOS1AP Zornitza Stark Mode of inheritance for gene: NOS1AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6150 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Mendeliome v0.6150 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Mendeliome v0.6149 NOS1AP Zornitza Stark Deleted their comment
Mendeliome v0.6149 NOS1AP Zornitza Stark edited their review of gene: NOS1AP: Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant.

Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386; Changed rating: GREEN; Changed phenotypes: Nephrotic syndrome, type 22, MIM# 619155; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1007 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Genetic Epilepsy v0.1006 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Mendeliome v0.6149 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Mendeliome v0.6148 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Intellectual disability syndromic and non-syndromic v0.3418 NBEA Zornitza Stark Phenotypes for gene: NBEA were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.3417 NBEA Zornitza Stark edited their review of gene: NBEA: Changed phenotypes: Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157, Intellectual disability, Seizures
Mendeliome v0.6148 DCT Zornitza Stark Marked gene: DCT as ready
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6148 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Mendeliome v0.6148 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Mendeliome v0.6147 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Expert list
Mitochondrial disease v0.571 SDHD Zornitza Stark Marked gene: SDHD as ready
Mitochondrial disease v0.571 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disease v0.571 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Mitochondrial disease v0.570 SDHD Zornitza Stark Publications for gene: SDHD were set to
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Marked gene: DCT as ready
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Ocular and Oculocutaneous Albinism v0.17 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.16 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Ocular and Oculocutaneous Albinism. Sources: Literature
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165
Review for gene: DCT was set to GREEN
Added comment: Two unrelated families reported. Functional data including mouse model.
Sources: Literature
Mitochondrial disease v0.569 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367056, 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3417 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Intellectual disability syndromic and non-syndromic v0.3416 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Intellectual disability syndromic and non-syndromic v0.3415 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3414 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6146 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mendeliome v0.6146 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mendeliome v0.6146 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mendeliome v0.6145 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mendeliome v0.6144 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mitochondrial disease v0.567 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mitochondrial disease v0.566 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6143 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, MIM#619172
Mendeliome v0.6142 BLOC1S5 Zornitza Stark edited their review of gene: BLOC1S5: Changed phenotypes: Hermansky–Pudlak syndrome 11, MIM#619172
Bleeding and Platelet Disorders v0.210 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, MIM#619172
Ocular and Oculocutaneous Albinism v0.15 BLOC1S5 Zornitza Stark Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome type 11, no OMIM# to Hermansky–Pudlak syndrome type 11, 619172
Mendeliome v0.6142 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6142 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mendeliome v0.6142 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6141 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome. Two unrelated families reported, some functional data.
Sources: Expert list
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.564 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome.

Two unrelated families reported, some functional data.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Classified gene: UGT1A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.69 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785
Review for gene: UGT1A1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Marked gene: UMPS as ready
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Classified gene: UMPS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.66 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900
Review for gene: UMPS was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3414 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, OMIM #613161
Intellectual disability syndromic and non-syndromic v0.3413 UPB1 Zornitza Stark Publications for gene: UPB1 were set to
Intellectual disability syndromic and non-syndromic v0.3412 UPB1 Zornitza Stark Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3411 UPB1 Zornitza Stark Classified gene: UPB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3411 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3410 UPB1 Zornitza Stark reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6140 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Mendeliome v0.6140 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Mendeliome v0.6140 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from to Beta-ureidopropionase deficiency, MIM# 613161
Mendeliome v0.6139 UPB1 Zornitza Stark Publications for gene: UPB1 were set to
Mendeliome v0.6138 UPB1 Zornitza Stark Mode of inheritance for gene: UPB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UPB1 Zornitza Stark reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Classified gene: UPB1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.64 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402; 15385443; 17964839
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM# 613161
Review for gene: UPB1 was set to GREEN
Added comment: Disorder of pyrimidine metabolism.

Phenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development, likely related to amount of residual enzyme activity.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Gene: uroc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3410 UROC1 Zornitza Stark Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880
Intellectual disability syndromic and non-syndromic v0.3409 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Intellectual disability syndromic and non-syndromic v0.3408 UROC1 Zornitza Stark Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3407 UROC1 Zornitza Stark Classified gene: UROC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3407 UROC1 Zornitza Stark Gene: uroc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3406 UROC1 Zornitza Stark reviewed gene: UROC1: Rating: RED; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6137 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Mendeliome v0.6137 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6137 UROC1 Zornitza Stark Phenotypes for gene: UROC1 were changed from to Urocanase deficiency, MIM#276880
Mendeliome v0.6136 UROC1 Zornitza Stark Publications for gene: UROC1 were set to
Mendeliome v0.6135 UROC1 Zornitza Stark Mode of inheritance for gene: UROC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6134 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Mendeliome v0.6134 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6133 UROC1 Zornitza Stark reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: Urocanase deficiency, MIM#276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Publications for gene: UROC1 were set to 19304569 30619714
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.61 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 19304569 30619714
Phenotypes for gene: UROC1 were set to Urocanase deficiency, MIM#276880
Review for gene: UROC1 was set to AMBER
Added comment: Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities.
Sources: Expert list
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Lysosomal Storage Disorder v0.62 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.61 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 22753090; 26808426
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: VIPAR is involved in intracellular sorting and trafficking of lysosomal proteins.

More than 5 unrelated families reported.
Sources: Expert list
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Lysosomal Storage Disorder v0.60 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.59 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Lysosomal Storage Disorder. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: VPS proteins are involved in Golgi-to-lysosome trafficking.

More than 20 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Classified gene: WDR45 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.59 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: WDR45 was set to GREEN
Added comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

More than 20 unrelated individuals reported. XLD.
Sources: Expert list
Metabolic Disorders Superpanel v1.61 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia; Hyperammonaemia
Hyperammonaemia v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hyperammonaemia v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 26550569; 21147908; 24740313
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Hyperammonaemia v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance 222700
Hyperammonaemia v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138
Hyperammonaemia v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Hyperammonaemia v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471
Hyperammonaemia v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Propionicacidemia 606054
Hyperammonaemia v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472
Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia
Hyperammonaemia v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease 232600
Hyperammonaemia v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Hyperammonaemia v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency 266150
Hyperammonaemia v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OTC 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: OTC were set to 2983225
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250
Hyperammonaemia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Hyperammonaemia v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency 237310
Hyperammonaemia v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000
Hyperammonaemia v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Hyperammonaemia v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 15523652; 12438653
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100
Hyperammonaemia v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 10455107; 10417274; 12955715
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency 248360; malonic aciduria
Hyperammonaemia v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913
Phenotypes for gene: IVD were set to Isovaleric acidemia 243500
Hyperammonaemia v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency 253270
Hyperammonaemia v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 11214910; 10636977
Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762
Hyperammonaemia v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Hyperammonaemia v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27081516
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680
Hyperammonaemia v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680
Hyperammonaemia v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II 248600
Hyperammonaemia v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836
Hyperammonaemia v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA 255120
Hyperammonaemia v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency 237300
Hyperammonaemia v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Hyperammonaemia v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib 248600
Hyperammonaemia v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia 248600
Hyperammonaemia v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I 250950
Hyperammonaemia v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 2358466
Phenotypes for gene: ASS1 were set to Citrullinemia 215700
Hyperammonaemia v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190
Phenotypes for gene: ASL were set to Argininosuccinic aciduria 207900
Hyperammonaemia v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia 207800
Hyperammonaemia v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 24767728; 11092761
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Hyperammonaemia v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Hyperammonaemia v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Hyperammonaemia v0.0 Zornitza Stark Added panel Hyperammonaemia
Clefting disorders v0.33 Zornitza Stark removed gene:UBB from the panel
Clefting disorders v0.32 Zornitza Stark removed gene:GYPE from the panel
Clefting disorders v0.31 PGM1 Chirag Patel Classified gene: PGM1 as Green List (high evidence)
Clefting disorders v0.31 PGM1 Chirag Patel Gene: pgm1 has been classified as Green List (High Evidence).
Clefting disorders v0.30 DLX4 Zornitza Stark Marked gene: DLX4 as ready
Clefting disorders v0.30 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Clefting disorders v0.30 DLX4 Zornitza Stark Phenotypes for gene: DLX4 were changed from nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788 to Orofacial cleft 15, MIM# 616788
Clefting disorders v0.29 DLX4 Zornitza Stark Publications for gene: DLX4 were set to 25954033
Clefting disorders v0.28 DLX4 Zornitza Stark Classified gene: DLX4 as Red List (low evidence)
Clefting disorders v0.28 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Clefting disorders v0.27 DLX4 Zornitza Stark reviewed gene: DLX4: Rating: RED; Mode of pathogenicity: None; Publications: 25954033, 29738288; Phenotypes: Orofacial cleft 15, MIM# 616788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6133 DLX4 Zornitza Stark Marked gene: DLX4 as ready
Mendeliome v0.6133 DLX4 Zornitza Stark Gene: dlx4 has been classified as Red List (Low Evidence).
Mendeliome v0.6133 DLX4 Zornitza Stark gene: DLX4 was added
gene: DLX4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX4 were set to 25954033; 29738288
Phenotypes for gene: DLX4 were set to Orofacial cleft 15, MIM# 616788
Review for gene: DLX4 was set to RED
Added comment: Single family reported and a SNP association study.
Sources: Expert list
Mendeliome v0.6132 DLG1 Zornitza Stark Marked gene: DLG1 as ready
Mendeliome v0.6132 DLG1 Zornitza Stark Gene: dlg1 has been classified as Red List (Low Evidence).
Mendeliome v0.6132 DLG1 Zornitza Stark gene: DLG1 was added
gene: DLG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLG1 were set to 28926086
Phenotypes for gene: DLG1 were set to Non-syndromic cleft lip and palate
Review for gene: DLG1 was set to RED
Added comment: GWAS study PMID: 28926086 found genome-wide significance for several SNPs within this gene, identifying it as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Sources: Expert list
Clefting disorders v0.27 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.27 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Clefting disorders v0.27 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Clefting disorders v0.27 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip to Mental retardation syndrome, X-linked, Siderius type, 300263
Clefting disorders v0.26 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Clefting disorders v0.25 PLCB4 Zornitza Stark Marked gene: PLCB4 as ready
Clefting disorders v0.25 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Clefting disorders v0.25 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, MIM# 614669; Cleft palate
Clefting disorders v0.24 PLCB4 Zornitza Stark Publications for gene: PLCB4 were set to
Clefting disorders v0.23 PLCB4 Zornitza Stark Mode of pathogenicity for gene: PLCB4 was changed from to Other
Clefting disorders v0.22 PLCB4 Zornitza Stark Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.21 PLCB4 Zornitza Stark Classified gene: PLCB4 as Green List (high evidence)
Clefting disorders v0.21 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Clefting disorders v0.20 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Marked gene: PLEKHA5 as ready
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.20 PLEKHA5 Zornitza Stark Phenotypes for gene: PLEKHA5 were changed from cleft lip to Cleft lip and palate
Clefting disorders v0.19 PLEKHA5 Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence)
Clefting disorders v0.19 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6131 PLEKHA7 Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from to Cleft lip and palate
Mendeliome v0.6130 PLEKHA7 Zornitza Stark Publications for gene: PLEKHA7 were set to
Mendeliome v0.6129 PLEKHA7 Zornitza Stark Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Classified gene: PLEKHA7 as Amber List (moderate evidence)
Mendeliome v0.6128 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6127 PLEKHA7 Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.17 PLEKHA7 Zornitza Stark Phenotypes for gene: PLEKHA7 were changed from cleft lip to Cleft lip and palate
Clefting disorders v0.16 PLEKHA7 Zornitza Stark reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.16 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Clefting disorders v0.16 RPL11 Zornitza Stark Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.16 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from Cleft palate to Diamond-Blackfan anemia 7, MIM# 612562; Cleft palate
Clefting disorders v0.15 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.14 RPL11 Zornitza Stark Classified gene: RPL11 as Amber List (moderate evidence)
Clefting disorders v0.14 RPL11 Zornitza Stark Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.13 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.13 RSPO2 Zornitza Stark Marked gene: RSPO2 as ready
Clefting disorders v0.13 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Clefting disorders v0.13 RSPO2 Zornitza Stark Phenotypes for gene: RSPO2 were changed from Cleft lip to Tetraamelia syndrome 2, MIM# 618021; Cleft lip and palate
Clefting disorders v0.12 RSPO2 Zornitza Stark Publications for gene: RSPO2 were set to
Clefting disorders v0.11 RSPO2 Zornitza Stark Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.10 RSPO2 Zornitza Stark Classified gene: RSPO2 as Green List (high evidence)
Clefting disorders v0.10 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Clefting disorders v0.9 RSPO2 Zornitza Stark reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: None
Clefting disorders v0.9 TBX1 Zornitza Stark Marked gene: TBX1 as ready
Clefting disorders v0.9 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Clefting disorders v0.9 TBX1 Zornitza Stark Phenotypes for gene: TBX1 were changed from CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate to Velocardiofacial syndrome, MIM# 192430; Cleft palate
Clefting disorders v0.8 TBX1 Zornitza Stark Publications for gene: TBX1 were set to
Clefting disorders v0.7 TBX1 Zornitza Stark Classified gene: TBX1 as Green List (high evidence)
Clefting disorders v0.7 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Clefting disorders v0.6 TBX1 Zornitza Stark Tag SV/CNV tag was added to gene: TBX1.
Clefting disorders v0.6 TBX1 Zornitza Stark reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29500247; Phenotypes: Velocardiofacial syndrome, MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.6 TBX2 Zornitza Stark gene: TBX2 was added
gene: TBX2 was added to Clefting_GEL. Sources: Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Review for gene: TBX2 was set to RED
Added comment: Four individuals reported from two unrelated families with a syndromic disorder, chiefly comprising skeletal, endocrine and immune abnormalities, reminiscent of VCFS. One of the four reported individuals had unilateral cleft lip/palate.
Sources: Expert list
Mendeliome v0.6127 ALMS1 Elena Savva reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17594715; Phenotypes: Alstrom syndrome MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.5 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Clefting disorders v0.5 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Clefting disorders v0.5 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from Cleft lip to Char syndrome, MIM# 169100
Clefting disorders v0.4 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.3 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.3 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Clefting disorders v0.3 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Clefting disorders v0.3 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Clefting_GEL. Sources: Expert Review
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Review for gene: TOGARAM1 was set to RED
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Expert Review
Clefting disorders v0.2 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Clefting disorders v0.2 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Clefting disorders v0.2 TRRAP Zornitza Stark Classified gene: TRRAP as Green List (high evidence)
Clefting disorders v0.2 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Clefting disorders v0.1 TRRAP Zornitza Stark gene: TRRAP was added
gene: TRRAP was added to Clefting_GEL. Sources: Expert Review
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM# 618454
Review for gene: TRRAP was set to GREEN
Added comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder. 5 had cleft lip/palate.
Sources: Expert Review
Mendeliome v0.6127 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Mendeliome v0.6127 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Mendeliome v0.6127 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)
Mendeliome v0.6126 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Mendeliome v0.6125 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6124 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.29 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)
Glycogen Storage Diseases v0.28 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Glycogen Storage Diseases v0.27 GYS2 Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3406 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Genetic Epilepsy v0.1006 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Mendeliome v0.6124 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Marked gene: ATP2A1 as ready
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Classified gene: ATP2A1 as Amber List (moderate evidence)
Malignant Hyperthermia Susceptibility v1.3 ATP2A1 Bryony Thompson Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Malignant Hyperthermia Susceptibility v1.2 ATP2A1 Bryony Thompson gene: ATP2A1 was added
gene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 32040565
Phenotypes for gene: ATP2A1 were set to Brody myopathy MIM#601003
Review for gene: ATP2A1 was set to AMBER
Added comment: In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions.
Sources: Literature
Glycogen Storage Diseases v0.26 GYS2 Crystle Lee reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6123 HNRNPU Elena Savva reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Developmental and epileptic encephalopathy 54 MIM# 617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy v0.91 RPL3L Zornitza Stark Mode of inheritance for gene: RPL3L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6123 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Mendeliome v0.6123 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Mendeliome v0.6123 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Mendeliome v0.6122 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Mendeliome v0.6121 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Mendeliome v0.6120 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.6119 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v0.121 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Optic Atrophy v0.121 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Optic Atrophy v0.121 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Optic Atrophy v0.120 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Optic Atrophy v0.119 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Optic Atrophy v0.118 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 KRT8 Sarah Righetti reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other
Malignant Hyperthermia Susceptibility v1.1 TRPV1 Bryony Thompson Publications for gene: TRPV1 were set to
Dilated Cardiomyopathy v0.90 RPL3L Elena Savva edited their review of gene: RPL3L: Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.117 OPA3 Teresa Zhao reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Marked gene: ASS1 as ready
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Classified gene: ASS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.57 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 19006241
Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASS1 was set to GREEN
gene: ASS1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Marked gene: ASPA as ready
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Classified gene: ASPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.55 ASPA Bryony Thompson gene: ASPA was added
gene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 8252036; 8023850
Phenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism
Review for gene: ASPA was set to GREEN
gene: ASPA was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Marked gene: ASL as ready
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Classified gene: ASL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.53 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12384776
Phenotypes for gene: ASL were set to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASL was set to GREEN
gene: ASL was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Marked gene: ARG1 as ready
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Classified gene: ARG1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.51 ARG1 Bryony Thompson gene: ARG1 was added
gene: ARG1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 1598908; 29726057
Phenotypes for gene: ARG1 were set to Argininemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Review for gene: ARG1 was set to GREEN
gene: ARG1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of of arginine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Marked gene: AMT as ready
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Classified gene: AMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.49 AMT Bryony Thompson gene: AMT was added
gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 8188235; 10873393; 11592811
Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Review for gene: AMT was set to GREEN
gene: AMT was marked as current diagnostic
Added comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Intellectual disability syndromic and non-syndromic v0.3405 LAS1L Zornitza Stark Publications for gene: LAS1L were set to 25644381; 25644381
Intellectual disability syndromic and non-syndromic v0.3404 LAS1L Zornitza Stark Classified gene: LAS1L as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3404 LAS1L Zornitza Stark Gene: las1l has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3403 LAS1L Zornitza Stark changed review comment from: Three unrelated families.; to: Three unrelated families, however note the pathogenicity of the variant reported in PMID 26358559 is questionable.
Intellectual disability syndromic and non-syndromic v0.3403 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: AMBER; Changed publications: 25644381, 26358559
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Marked gene: ALPL as ready
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Classified gene: ALPL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.47 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660; 1409720
Phenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism
Review for gene: ALPL was set to GREEN
gene: ALPL was marked as current diagnostic
Added comment: Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Marked gene: ALDH7A1 as ready
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Classified gene: ALDH7A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.45 ALDH7A1 Bryony Thompson gene: ALDH7A1 was added
gene: ALDH7A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 16491085; 17068770
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism
Review for gene: ALDH7A1 was set to GREEN
gene: ALDH7A1 was marked as current diagnostic
Added comment: Inborn error of lysine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Marked gene: ALDH6A1 as ready
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.43 ALDH6A1 Bryony Thompson gene: ALDH6A1 was added
gene: ALDH6A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272
Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism
Review for gene: ALDH6A1 was set to GREEN
gene: ALDH6A1 was marked as current diagnostic
Added comment: At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Marked gene: ALDH5A1 as ready
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Classified gene: ALDH5A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.41 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism
Review for gene: ALDH5A1 was set to GREEN
gene: ALDH5A1 was marked as current diagnostic
Added comment: Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Marked gene: ALDH4A1 as ready
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Classified gene: ALDH4A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.39 ALDH4A1 Bryony Thompson gene: ALDH4A1 was added
gene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195; 31884946
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Review for gene: ALDH4A1 was set to GREEN
gene: ALDH4A1 was marked as current diagnostic
Added comment: At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Marked gene: ALDH3A2 as ready
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Classified gene: ALDH3A2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.37 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 8528251; 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism
Review for gene: ALDH3A2 was set to GREEN
gene: ALDH3A2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson changed review comment from: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS; to: Well-established gene-disease association (see OMIM). Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Marked gene: ALDH18A1 as ready
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Classified gene: ALDH18A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.35 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 32221810; 11092761; 29754261; 26026163
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
Review for gene: ALDH18A1 was set to GREEN
gene: ALDH18A1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Pulmonary Arterial Hypertension v1.0 Zornitza Stark promoted panel to version 1.0
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.57 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.17 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Mendeliome v0.6119 FOXF1 Zornitza Stark changed review comment from: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.; to: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported.
Mendeliome v0.6119 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Mendeliome v0.6119 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Mendeliome v0.6119 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Mendeliome v0.6118 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Mendeliome v0.6117 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6116 FOXF1 Kristin Rigbye reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23505205, 27071622, 27855150; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins (MIM#265380), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Metabolic Disorders Superpanel v1.33 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Metabolic Disorders Superpanel v1.32 Zornitza Stark Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Miscellaneous Metabolic Disorders; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Iron metabolism disorders; Hyperlipidaemia
Metal Metabolism Disorders v0.10 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6116 STEAP3 Zornitza Stark Marked gene: STEAP3 as ready
Mendeliome v0.6116 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6116 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from to Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234
Mendeliome v0.6115 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to
Mendeliome v0.6114 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6113 STEAP3 Zornitza Stark Classified gene: STEAP3 as Amber List (moderate evidence)
Mendeliome v0.6113 STEAP3 Zornitza Stark Gene: steap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6112 STEAP3 Zornitza Stark reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22031863, 25515317; Phenotypes: Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Marked gene: HEPH as ready
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Phenotypes for gene: HEPH were changed from to Iron metabolism defect
Metal Metabolism Disorders v0.8 HEPH Zornitza Stark Publications for gene: HEPH were set to
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Classified gene: HEPH as Red List (low evidence)
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 HEPH Zornitza Stark reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None
Mendeliome v0.6112 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Mendeliome v0.6112 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Mendeliome v0.6112 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to Hemochromatosis, type 5, MIM# 615517
Review for gene: FTH1 was set to RED
Added comment: One multi-generational family with 5' UTR variant.
Sources: Expert list
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Tag 5'UTR tag was added to gene: FTH1.
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM# 615517
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Classified gene: FTH1 as Red List (low evidence)
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: None; Publications: 11389486; Phenotypes: Hemochromatosis, type 5, MIM# 615517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6111 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Mendeliome v0.6111 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Mendeliome v0.6111 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYBRD1 were set to 15338274
Phenotypes for gene: CYBRD1 were set to Iron overload
Review for gene: CYBRD1 was set to RED
Added comment: Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad.
Sources: Expert list
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload; NA IRON OVERLOAD; N/A Primary iron overload to Iron overload
Metal Metabolism Disorders v0.3 CYBRD1 Zornitza Stark Mode of inheritance for gene: CYBRD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Classified gene: CYBRD1 as Red List (low evidence)
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.1 CYBRD1 Zornitza Stark reviewed gene: CYBRD1: Rating: RED; Mode of pathogenicity: None; Publications: 15338274; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6110 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6110 BMP6 Zornitza Stark Classified gene: BMP6 as Green List (high evidence)
Mendeliome v0.6110 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Mendeliome v0.6109 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP6 were set to 26582087; 32464486
Phenotypes for gene: BMP6 were set to Iron overload, mild to moderate
Review for gene: BMP6 was set to GREEN
Added comment: More than 9 individuals reported with iron overload and variants in this gene.
Sources: Expert list
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD to Iron overload, mild to moderate
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26582087, 32464486; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: STEAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STEAP3 were set to 22031863
Phenotypes for gene: STEAP3 were set to 615234 ?Anemia, hypochromic microcytic, with iron overload 2
Metal Metabolism Disorders v0.0 HEPH Zornitza Stark gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.0 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5
Metal Metabolism Disorders v0.0 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 20857522; 26387792; 28614581
Phenotypes for gene: FECH were set to EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Metal Metabolism Disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 19357398; 18408718
Phenotypes for gene: TMPRSS6 were set to IRIDA; 206200 Iron-refractory iron deficiency anemia; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Metal Metabolism Disorders v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 11313241; 10802645
Phenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3
Metal Metabolism Disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 15466165; 11110675
Phenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia
Metal Metabolism Disorders v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC40A1 were set to 16351644; 11431687
Phenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4
Metal Metabolism Disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 21393332; 19412178; 24323989
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 16439678; 15459009; 16160008
Phenotypes for gene: SLC11A2 were set to AHMIO1; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; DMT1-related anemia
Metal Metabolism Disorders v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE2 were set to 14982873
Phenotypes for gene: HFE2 were set to HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A
Metal Metabolism Disorders v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 18199861
Phenotypes for gene: HFE were set to 235200 Hemochromatosis; 235200 HEMOCHROMATOSIS, TYPE 1; 235200HEMOCHROMATOSIS, TYPE 1; HFE1
Metal Metabolism Disorders v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12915468; 15198949; 12469120
Phenotypes for gene: HAMP were set to 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
Metal Metabolism Disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 24003969; 30401706; 25342667; 30098397
Phenotypes for gene: GLRX5 were set to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27265538; 27816428; 20575041
Phenotypes for gene: GBA were set to 230800 Gaucher disease, type I; 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III
Metal Metabolism Disorders v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363
Phenotypes for gene: FTL were set to 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; LFTD; NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 606159 Neurodegeneration with brain iron accumulation 3; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive
Metal Metabolism Disorders v0.0 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CYBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYBRD1 were set to 15338274; 27884173
Phenotypes for gene: CYBRD1 were set to Iron overload; NA IRON OVERLOAD; N/A Primary iron overload
Metal Metabolism Disorders v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 15338274
Phenotypes for gene: CP were set to 604290 ACERULOPLASMINEMIA; 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP6 were set to 26582087
Phenotypes for gene: BMP6 were set to 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD
Metal Metabolism Disorders v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 24002824; 18210110; 27982432; 28433102; 24266916
Phenotypes for gene: ATP7B were set to 277900 WILSON DISEASE
Metal Metabolism Disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397
Phenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1
Metal Metabolism Disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 10196363; 30401706; 29787825
Phenotypes for gene: ABCB7 were set to 301310 Anemia, sideroblastic, with ataxia
Metal Metabolism Disorders v0.0 Zornitza Stark Added panel Iron metabolism disorders
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Marked gene: MVK as ready
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Autoinflammatory Disorders v0.100 MVK Zornitza Stark Publications for gene: MVK were set to
Autoinflammatory Disorders v0.99 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.34 AKR1D1 Bryony Thompson Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism
Miscellaneous Metabolic Disorders v0.33 AHCY Bryony Thompson Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752; disorder of methionine metabolism
Miscellaneous Metabolic Disorders v0.32 ADSL Bryony Thompson Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.31 ADA Bryony Thompson Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.30 ACY1 Bryony Thompson Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism
Miscellaneous Metabolic Disorders v0.29 ACAD8 Bryony Thompson Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency MIM#611283 to Isobutyryl-CoA dehydrogenase deficiency MIM#611283; of valine metabolism
Miscellaneous Metabolic Disorders v0.28 ABHD5 Bryony Thompson Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; lipid metabolism
Miscellaneous Metabolic Disorders v0.27 ABHD12 Bryony Thompson Phenotypes for gene: ABHD12 were changed from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; disorder of of endocannabinoid metabolism
Miscellaneous Metabolic Disorders v0.26 ABCD4 Bryony Thompson Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; disorder of vitamin B12 metabolism
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Marked gene: AKR1D1 as ready
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Classified gene: AKR1D1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.24 AKR1D1 Bryony Thompson gene: AKR1D1 was added
gene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144; 20522910; 15030995
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555
Review for gene: AKR1D1 was set to GREEN
gene: AKR1D1 was marked as current diagnostic
Added comment: Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Marked gene: AHCY as ready
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Classified gene: AHCY as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.22 AHCY Bryony Thompson gene: AHCY was added
gene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Review for gene: AHCY was set to GREEN
gene: AHCY was marked as current diagnostic
Added comment: S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Marked gene: ADSL as ready
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Classified gene: ADSL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.20 ADSL Bryony Thompson gene: ADSL was added
gene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050
Review for gene: ADSL was set to GREEN
gene: ADSL was marked as current diagnostic
Added comment: Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Marked gene: ADA as ready
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Classified gene: ADA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.18 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700
Review for gene: ADA was set to GREEN
gene: ADA was marked as current diagnostic
Added comment: Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Marked gene: ACY1 as ready
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Classified gene: ACY1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.16 ACY1 Bryony Thompson gene: ACY1 was added
gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924
Review for gene: ACY1 was set to GREEN
gene: ACY1 was marked as current diagnostic
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Classified gene: ACSF3 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.14 ACSF3 Bryony Thompson gene: ACSF3 was added
gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265
Review for gene: ACSF3 was set to AMBER
Added comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Marked gene: ACAD8 as ready
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Classified gene: ACAD8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.12 ACAD8 Bryony Thompson gene: ACAD8 was added
gene: ACAD8 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 12359132; 17304052
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Review for gene: ACAD8 was set to GREEN
gene: ACAD8 was marked as current diagnostic
Added comment: Inborn error of valine metabolism. Isobutyryl-CoA dehydrogenase deficiency was identified in at least 9 cases in 8 families, 6 of the cases were asymptomatic at the time of the study.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Marked gene: ABHD5 as ready
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Classified gene: ABHD5 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.10 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis
Review for gene: ABHD5 was set to GREEN
gene: ABHD5 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM) that is involved in lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Marked gene: ABHD12 as ready
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.8 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 20797687
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
gene: ABHD12 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM). Biallelic variants cause an inborn error of endocannabinoid metabolism.
Sources: NHS GMS
Metabolic Disorders Superpanel v1.4 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Miscellaneous Metabolic Disorders; Hyperlipidaemia
Miscellaneous Metabolic Disorders v0.6 Bryony Thompson Panel status changed from internal to public
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Classified gene: ABCD4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.4 ABCD4 Bryony Thompson gene: ABCD4 was added
gene: ABCD4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Review for gene: ABCD4 was set to GREEN
Added comment: Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model
PMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype.
PMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys)
PMID: 28572511 - 1 compound het case with supporting functional assays
PMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia
Sources: NHS GMS
Mendeliome v0.6108 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Mendeliome v0.6108 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Marked gene: CREB3L3 as ready
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6107 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694
Phenotypes for gene: CREB3L3 were set to Hyperlipidaemia; hypertriglyceridemia
Review for gene: CREB3L3 was set to AMBER
Added comment: PMID: 26427795 - a loss of function variant (c.359delG p.K120fsX20) was identified in 2 affected adult siblings and a 13 yo normotriglyceridemic daughter of one of the siblings.
PMID: 21666694 - Lipoprotein profiles of the families of 4 individuals with CREB3L3 nonsense mutations showed a significantly elevated mean plasma TG level in 11 mutation carriers compared with 5 non-carrier first-degree relatives (9.67 ± 4.70 vs. 1.66 ± 0.55 mM, P = 0.021, Wilcoxon test). 3 of those families have the same variant - Lys245GlufsTer130, which has 126 (281,946 alleles) hets in gnomAD v2.1.
PMID: 32580631 - case-control analysis of nonmonogenic severe hypertriglyceridemia cases (N=265) vs normolipidemic controls (N=477), identified 5 cases with LoF variants (3 of whom had the Lys245GlufsTer130 frameshift) and none in controls. OR 20.2 (95% CI 1.11–366.1) p = 0.002, adjusted p = 0.03.
The frequency of Lys245GlufsTer130 is higher than expected for a dominant disorder, but other loss of function variants have been identified. The gene may be associated with variable penetrance. There are multiple supporting null mouse models with hyperlipidaemia.
Sources: Expert list
Dyslipidaemia v0.3 CREB3L3 Bryony Thompson reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694; Phenotypes: Hyperlipidaemia, hypertriglyceridemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Marked gene: GPIHBP1 as ready
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Classified gene: GPIHBP1 as Green List (high evidence)
Mendeliome v0.6106 GPIHBP1 Bryony Thompson Gene: gpihbp1 has been classified as Green List (High Evidence).
Mendeliome v0.6105 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPIHBP1 were set to 17883852; 19304573; 20026666; 17403372
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome
Review for gene: GPIHBP1 was set to GREEN
gene: GPIHBP1 was marked as current diagnostic
Added comment: Well-established cause of familial chylomicronemia (see OMIM). Greater than 3 families reported and a supporting mouse model.
Sources: Expert list
Metabolic Disorders Superpanel v1.1 Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Hyperlipidaemia
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Marked gene: AASS as ready
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Classified gene: AASS as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.98 MVK Crystle Lee reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v0.1 AASS Bryony Thompson gene: AASS was added
gene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 23570448
Phenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700
Miscellaneous Metabolic Disorders v0.0 Bryony Thompson Added Panel Miscellaneous Metabolic Disorders
Set panel types to: Royal Melbourne Hospital; Rare Disease
Mendeliome v0.6104 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Mendeliome v0.6103 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3403 AGO2 Zornitza Stark Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3402 AGO2 Zornitza Stark edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability
Hereditary Haemorrhagic Telangiectasia v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.15 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Hereditary Haemorrhagic Telangiectasia v0.14 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.14 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation-2 to Capillary malformation-arteriovenous malformation-2, MIM# 618196
Hereditary Haemorrhagic Telangiectasia v0.13 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.12 EPHB4 Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2, MIM# 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark Marked gene: ENG as ready
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.12 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metabolic Disorders Superpanel v1.0 Bryony Thompson Added Panel Metabolic Disorders Superpanel
Set child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease
Set panel types to: Superpanel; Royal Melbourne Hospital; Rare Disease
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Hereditary Haemorrhagic Telangiectasia v0.12 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Hereditary Haemorrhagic Telangiectasia v0.11 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v1.0 Zornitza Stark promoted panel to version 1.0
Haematuria_Alport v0.41 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Haematuria_Alport v0.41 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Haematuria_Alport v0.41 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Haematuria_Alport v0.40 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.39 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Haematuria_Alport v0.39 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200
Haematuria_Alport v0.38 COL4A3 Zornitza Stark Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematuria_Alport v0.37 COL4A3 Zornitza Stark reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.259 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Classified gene: KIF1A as Green List (high evidence)
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.165 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 32096284; 32935419
Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability
Review for gene: KIF1A was set to GREEN
gene: KIF1A was marked as current diagnostic
Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants.
Sources: Literature
Ataxia v0.268 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.268 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.267 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ataxia as a feature of the condition. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Marked gene: CBY1 as ready