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Rare genetic inflammatory skin disorders v0.3 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SAMHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome; Chillblain lupus
Rare genetic inflammatory skin disorders v0.3 RAG2 Rebecca Foulger gene: RAG2 was added
gene: RAG2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 RAG1 Rebecca Foulger gene: RAG1 was added
gene: RAG1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 OSMR Rebecca Foulger gene: OSMR was added
gene: OSMR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis cutis
Rare genetic inflammatory skin disorders v0.3 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,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)
Phenotypes for gene: NSDHL were set to CHILD syndrome
Rare genetic inflammatory skin disorders v0.3 NOD2 Rebecca Foulger gene: NOD2 was added
gene: NOD2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome
Rare genetic inflammatory skin disorders v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Rare genetic inflammatory skin disorders v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix
Rare genetic inflammatory skin disorders v0.3 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism
Rare genetic inflammatory skin disorders v0.3 IL36RN Rebecca Foulger gene: IL36RN was added
gene: IL36RN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL36RN were set to Recurrent pustular psoriasis
Rare genetic inflammatory skin disorders v0.3 IL1RN Rebecca Foulger gene: IL1RN was added
gene: IL1RN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Recurrent pustular psoriasis
Rare genetic inflammatory skin disorders v0.3 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, Ectodermal dysplasia
Rare genetic inflammatory skin disorders v0.3 GJB4 Rebecca Foulger gene: GJB4 was added
gene: GJB4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis
Rare genetic inflammatory skin disorders v0.3 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis
Rare genetic inflammatory skin disorders v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
Rare genetic inflammatory skin disorders v0.3 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to Ichthyosis vulgaris; Eczema
Rare genetic inflammatory skin disorders v0.3 EDA Rebecca Foulger gene: EDA was added
gene: EDA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Rare genetic inflammatory skin disorders v0.3 DOCK8 Rebecca Foulger gene: DOCK8 was added
gene: DOCK8 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive
Rare genetic inflammatory skin disorders v0.3 DCLRE1C Rebecca Foulger gene: DCLRE1C was added
gene: DCLRE1C was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Omenn syndrome
Rare genetic inflammatory skin disorders v0.3 CYBB Rebecca Foulger gene: CYBB was added
gene: CYBB was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chillblain lupus; Discoid lupus erythematosus
Rare genetic inflammatory skin disorders v0.3 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome; susceptibility to psoriasis
Rare genetic inflammatory skin disorders v0.3 ADA2 Rebecca Foulger gene: ADA2 was added
gene: ADA2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa
Rare genetic inflammatory skin disorders v0.3 CARD9 Rebecca Foulger gene: CARD9 was added
gene: CARD9 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARD9 was set to
Publications for gene: CARD9 were set to 24131138
Phenotypes for gene: CARD9 were set to Deep dermatophytosis
Rare genetic inflammatory skin disorders v0.3 CARD14 Rebecca Foulger gene: CARD14 was added
gene: CARD14 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to susceptibility to psoriasis; Pityriasis rubra pilaris
Rare genetic inflammatory skin disorders v0.3 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: AGPS was set to
Phenotypes for gene: AGPS were set to Photoallergic dermatitis
Inherited polyposis and early onset colorectal cancer - germline testing v0.41 GREM1 Ivone Leong Classified gene: GREM1 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.41 GREM1 Ivone Leong Gene: grem1 has been classified as Amber List (Moderate Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 POLE Ivone Leong Classified gene: POLE as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.40 POLE Ivone Leong Gene: pole has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.39 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.39 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.38 POLD1 Ivone Leong Classified gene: POLD1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.38 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.37 NTHL1 Ivone Leong Classified gene: NTHL1 as Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.37 NTHL1 Ivone Leong Gene: nthl1 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.29 BAP1 Ivone Leong Classified gene: BAP1 as Green List (high evidence)
Inherited renal cancer v0.29 BAP1 Ivone Leong Gene: bap1 has been classified as Green List (High Evidence).
Inherited renal cancer v0.28 SDHD Ivone Leong Classified gene: SDHD as Amber List (moderate evidence)
Inherited renal cancer v0.28 SDHD Ivone Leong Gene: sdhd has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.27 SDHC Ivone Leong Classified gene: SDHC as Amber List (moderate evidence)
Inherited renal cancer v0.27 SDHC Ivone Leong Gene: sdhc has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.26 CDKN2B Ivone Leong Classified gene: CDKN2B as Amber List (moderate evidence)
Inherited renal cancer v0.26 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.19 TERT Ivone Leong Classified gene: TERT as Amber List (moderate evidence)
Familial melanoma v0.19 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.18 POT1 Ivone Leong Classified gene: POT1 as Amber List (moderate evidence)
Familial melanoma v0.18 POT1 Ivone Leong Gene: pot1 has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.4 EPHB4 Rebecca Foulger reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 VEGFA Rebecca Foulger reviewed gene: VEGFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 TMEM173 Rebecca Foulger reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 TEK Rebecca Foulger reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SOX18 Rebecca Foulger reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SMAD4 Rebecca Foulger reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 KRIT1 Rebecca Foulger reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 KDR Rebecca Foulger reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 IDH2 Rebecca Foulger reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 IDH1 Rebecca Foulger reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 GLMN Rebecca Foulger reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 FOXC2 Rebecca Foulger reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 FLT4 Rebecca Foulger reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 F12 Rebecca Foulger reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ENG Rebecca Foulger reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 CCBE1 Rebecca Foulger reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ATR Rebecca Foulger reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ATM Rebecca Foulger reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ANTXR1 Rebecca Foulger reviewed gene: ANTXR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 AGGF1 Rebecca Foulger reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 ACVRL1 Rebecca Foulger reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.3 EPHB4 Rebecca Foulger gene: EPHB4 was added
gene: EPHB4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPHB4 were set to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196
Vascular skin disorders v0.3 VEGFA Rebecca Foulger gene: VEGFA was added
gene: VEGFA was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VEGFA was set to
Phenotypes for gene: VEGFA were set to Association with POEMS syndrome
Vascular skin disorders v0.3 TMEM173 Rebecca Foulger gene: TMEM173 was added
gene: TMEM173 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy
Vascular skin disorders v0.3 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TEK were set to Venous malformations
Vascular skin disorders v0.3 SOX18 Rebecca Foulger gene: SOX18 was added
gene: SOX18 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Vascular skin disorders v0.3 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Vascular skin disorders v0.3 SCN9A Rebecca Foulger gene: SCN9A was added
gene: SCN9A was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythromyalgia
Vascular skin disorders v0.3 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome
Vascular skin disorders v0.3 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387
Vascular skin disorders v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Vascular skin disorders v0.3 KRIT1 Rebecca Foulger gene: KRIT1 was added
gene: KRIT1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS, 116860
Vascular skin disorders v0.3 KDR Rebecca Foulger gene: KDR was added
gene: KDR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDR were set to Susceptibility to infantile haemangioma
Vascular skin disorders v0.3 IDH2 Rebecca Foulger gene: IDH2 was added
gene: IDH2 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome
Vascular skin disorders v0.3 IDH1 Rebecca Foulger gene: IDH1 was added
gene: IDH1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH1 were set to Ollier disease; Maffucci syndrome
Vascular skin disorders v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Vascular skin disorders v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Vascular skin disorders v0.3 GLMN Rebecca Foulger gene: GLMN was added
gene: GLMN was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLMN were set to Glomulovenous malformations
Vascular skin disorders v0.3 FOXC2 Rebecca Foulger gene: FOXC2 was added
gene: FOXC2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema-distichiasis syndrome
Vascular skin disorders v0.3 FLT4 Rebecca Foulger gene: FLT4 was added
gene: FLT4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLT4 were set to Infantile haemangioma; Milroy disease
Vascular skin disorders v0.3 F12 Rebecca Foulger gene: F12 was added
gene: F12 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F12 were set to Hereditary angioedema
Vascular skin disorders v0.3 ENG Rebecca Foulger gene: ENG was added
gene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia
Vascular skin disorders v0.3 CCBE1 Rebecca Foulger gene: CCBE1 was added
gene: CCBE1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphoedema syndrome
Vascular skin disorders v0.3 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome
Vascular skin disorders v0.3 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia telengiectasia
Vascular skin disorders v0.3 ANTXR1 Rebecca Foulger gene: ANTXR1 was added
gene: ANTXR1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANTXR1 were set to Susceptibility to infantile haemangioma
Vascular skin disorders v0.3 AGGF1 Rebecca Foulger gene: AGGF1 was added
gene: AGGF1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: AGGF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AGGF1 were set to Susceptibility to Klippel-Trenaunay-Weber syndrome
Vascular skin disorders v0.3 ACVRL1 Rebecca Foulger gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia
Pigmentary skin disorders v0.4 WRAP53 Rebecca Foulger reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 VDR Rebecca Foulger reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 USB1 Rebecca Foulger reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TYR Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TMC8 Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TMC6 Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TINF2 Rebecca Foulger reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TERT Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TERC Rebecca Foulger reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 STK11 Rebecca Foulger reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOX18 Rebecca Foulger reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOX10 Rebecca Foulger reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOS1 Rebecca Foulger reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SNAI2 Rebecca Foulger reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLX4 Rebecca Foulger reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC45A2 Rebecca Foulger reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC29A3 Rebecca Foulger reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC24A5 Rebecca Foulger reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SASH1 Rebecca Foulger reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SAMD9 Rebecca Foulger reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RAB27A Rebecca Foulger reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PSENEN Rebecca Foulger reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 POGLUT1 Rebecca Foulger reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 POFUT1 Rebecca Foulger reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PMS2 Rebecca Foulger reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OSMR Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OCA2 Rebecca Foulger reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NOP10 Rebecca Foulger reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NF2 Rebecca Foulger reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MSH6 Rebecca Foulger reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MSH2 Rebecca Foulger reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MLH1 Rebecca Foulger reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MITF Rebecca Foulger reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MC1R Rebecca Foulger reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 LYST Rebecca Foulger reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT5 Rebecca Foulger reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT14 Rebecca Foulger reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KITLG Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KIT Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 IRF4 Rebecca Foulger reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 HPS1 Rebecca Foulger reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GPNMB Rebecca Foulger reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJB4 Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GALNT3 Rebecca Foulger reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FLNA Rebecca Foulger reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FGF23 Rebecca Foulger reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FAM111B Rebecca Foulger reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 EDN3 Rebecca Foulger reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 DKC1 Rebecca Foulger reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CIB1 Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CDKN2A Rebecca Foulger reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CDK4 Rebecca Foulger reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CBL Rebecca Foulger reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BNC2 Rebecca Foulger reviewed gene: BNC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BAP1 Rebecca Foulger reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ASIP Rebecca Foulger reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 AP3B1 Rebecca Foulger reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ADAM10 Rebecca Foulger reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ABCD4 Rebecca Foulger reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ABCB6 Rebecca Foulger reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.3 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VDR was set to
Phenotypes for gene: VDR were set to Susceptibility to skin cancer
Pigmentary skin disorders v0.3 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Pigmentary skin disorders v0.3 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis
Pigmentary skin disorders v0.3 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis
Pigmentary skin disorders v0.3 TMC8 Rebecca Foulger gene: TMC8 was added
gene: TMC8 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231
Pigmentary skin disorders v0.3 TMC6 Rebecca Foulger gene: TMC6 was added
gene: TMC6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400
Pigmentary skin disorders v0.3 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Revesz syndrome; Dyskeratosis congenita
Pigmentary skin disorders v0.3 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita
Pigmentary skin disorders v0.3 TERC Rebecca Foulger gene: TERC was added
gene: TERC was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 STK11 Rebecca Foulger gene: STK11 was added
gene: STK11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Pigmentary skin disorders v0.3 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Pigmentary skin disorders v0.3 SOX18 Rebecca Foulger gene: SOX18 was added
gene: SOX18 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Pigmentary skin disorders v0.3 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS1 were set to Noonan syndrome
Pigmentary skin disorders v0.3 SNAI2 Rebecca Foulger gene: SNAI2 was added
gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAI2 were set to Piebaldism
Pigmentary skin disorders v0.3 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi Anaemia
Pigmentary skin disorders v0.3 SLC45A2 Rebecca Foulger gene: SLC45A2 was added
gene: SLC45A2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism; Predisposition to melanoma
Pigmentary skin disorders v0.3 SLC29A3 Rebecca Foulger gene: SLC29A3 was added
gene: SLC29A3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome/H disease
Pigmentary skin disorders v0.3 SLC24A5 Rebecca Foulger gene: SLC24A5 was added
gene: SLC24A5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Oculocutaneous albinism; Predisposition to melanoma
Pigmentary skin disorders v0.3 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Pigmentary skin disorders v0.3 SASH1 Rebecca Foulger gene: SASH1 was added
gene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het)
Pigmentary skin disorders v0.3 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RIT1 were set to Noonan syndrome 8, 615355
Pigmentary skin disorders v0.3 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome
Pigmentary skin disorders v0.3 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Pigmentary skin disorders v0.3 RAB27A Rebecca Foulger gene: RAB27A was added
gene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome
Pigmentary skin disorders v0.3 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Pigmentary skin disorders v0.3 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma
Pigmentary skin disorders v0.3 PSENEN Rebecca Foulger gene: PSENEN was added
gene: PSENEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSENEN were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Pigmentary skin disorders v0.3 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PORCN 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: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa
Pigmentary skin disorders v0.3 POGLUT1 Rebecca Foulger gene: POGLUT1 was added
gene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 POFUT1 Rebecca Foulger gene: POFUT1 was added
gene: POFUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POFUT1 were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Pigmentary skin disorders v0.3 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 PALB2 Rebecca Foulger gene: PALB2 was added
gene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PALB2 were set to Fanconi Anaemia
Pigmentary skin disorders v0.3 OSMR Rebecca Foulger gene: OSMR was added
gene: OSMR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis cutis
Pigmentary skin disorders v0.3 OFD1 Rebecca Foulger gene: OFD1 was added
gene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: OFD1 was set to
Phenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects
Pigmentary skin disorders v0.3 OCA2 Rebecca Foulger gene: OCA2 was added
gene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome
Pigmentary skin disorders v0.3 NOP10 Rebecca Foulger gene: NOP10 was added
gene: NOP10 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230
Pigmentary skin disorders v0.3 NF2 Rebecca Foulger gene: NF2 was added
gene: NF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis type 2
Pigmentary skin disorders v0.3 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Pigmentary skin disorders v0.3 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Pigmentary skin disorders v0.3 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Pigmentary skin disorders v0.3 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 MC1R Rebecca Foulger gene: MC1R was added
gene: MC1R was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC1R were set to Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Pigmentary skin disorders v0.3 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Pigmentary skin disorders v0.3 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome
Pigmentary skin disorders v0.3 KRT5 Rebecca Foulger gene: KRT5 was added
gene: KRT5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Dowling-Degos disease; Epidermolysis bullosa
Pigmentary skin disorders v0.3 KRT14 Rebecca Foulger gene: KRT14 was added
gene: KRT14 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa
Pigmentary skin disorders v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Pigmentary skin disorders v0.3 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRAS were set to NOONAN SYNDROME 3, 609942
Pigmentary skin disorders v0.3 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KITLG were set to Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation
Pigmentary skin disorders v0.3 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism
Pigmentary skin disorders v0.3 IRF4 Rebecca Foulger gene: IRF4 was added
gene: IRF4 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IRF4 was set to
Phenotypes for gene: IRF4 were set to Pigmentation,susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi
Pigmentary skin disorders v0.3 HPS1 Rebecca Foulger gene: HPS1 was added
gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome
Pigmentary skin disorders v0.3 GPNMB Rebecca Foulger gene: GPNMB was added
gene: GPNMB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPNMB were set to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920
Pigmentary skin disorders v0.3 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Pigmentary skin disorders v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Pigmentary skin disorders v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Pigmentary skin disorders v0.3 GJB4 Rebecca Foulger gene: GJB4 was added
gene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis
Pigmentary skin disorders v0.3 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis
Pigmentary skin disorders v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525
Pigmentary skin disorders v0.3 GALNT3 Rebecca Foulger gene: GALNT3 was added
gene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 FLNA Rebecca Foulger gene: FLNA was added
gene: FLNA was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Terminal osseous dysplasia with pigmentary defects
Pigmentary skin disorders v0.3 FGF23 Rebecca Foulger gene: FGF23 was added
gene: FGF23 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 FAM111B Rebecca Foulger gene: FAM111B was added
gene: FAM111B was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma
Pigmentary skin disorders v0.3 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Cole disease
Pigmentary skin disorders v0.3 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 EDN3 Rebecca Foulger gene: EDN3 was added
gene: EDN3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 DKC1 Rebecca Foulger gene: DKC1 was added
gene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 CIB1 Rebecca Foulger gene: CIB1 was added
gene: CIB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267
Pigmentary skin disorders v0.3 CDKN2A Rebecca Foulger gene: CDKN2A was added
gene: CDKN2A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma susceptibility
Pigmentary skin disorders v0.3 CDK4 Rebecca Foulger gene: CDK4 was added
gene: CDK4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma susceptibility
Pigmentary skin disorders v0.3 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan-like disorder
Pigmentary skin disorders v0.3 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome; Melanocytic naevi
Pigmentary skin disorders v0.3 BNC2 Rebecca Foulger gene: BNC2 was added
gene: BNC2 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: BNC2 was set to
Phenotypes for gene: BNC2 were set to Pigmentation, susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 BAP1 Rebecca Foulger gene: BAP1 was added
gene: BAP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Melanoma susceptility
Pigmentary skin disorders v0.3 ASIP Rebecca Foulger gene: ASIP was added
gene: ASIP was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ASIP was set to
Phenotypes for gene: ASIP were set to Pigmentation, susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata
Pigmentary skin disorders v0.3 AP3B1 Rebecca Foulger gene: AP3B1 was added
gene: AP3B1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome
Pigmentary skin disorders v0.3 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)
Pigmentary skin disorders v0.3 ADAM10 Rebecca Foulger gene: ADAM10 was added
gene: ADAM10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAM10 were set to Reticulate acropigmentation of Kitamura
Pigmentary skin disorders v0.3 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect
Pigmentary skin disorders v0.3 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCB6 were set to DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Marked gene: STX3 as ready
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Gene: stx3 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.18 STX3 Ivone Leong Publications for gene: STX3 were set to 24726755; 29266534; 25358429
Intestinal failure or congenital diarrhoea v0.17 STX3 Ivone Leong Mode of inheritance for gene: STX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.21 VPS33B Ivone Leong Marked gene: VPS33B as ready
Cholestasis v0.21 VPS33B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 VPS33B Ivone Leong Gene: vps33b has been classified as Green List (High Evidence).
Cholestasis v0.21 VIPAS39 Ivone Leong Marked gene: VIPAS39 as ready
Cholestasis v0.21 VIPAS39 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 VIPAS39 Ivone Leong Gene: vipas39 has been classified as Green List (High Evidence).
Cholestasis v0.21 UGT1A1 Ivone Leong Marked gene: UGT1A1 as ready
Cholestasis v0.21 UGT1A1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 UGT1A1 Ivone Leong Gene: ugt1a1 has been classified as Green List (High Evidence).
Cholestasis v0.21 TJP2 Ivone Leong Marked gene: TJP2 as ready
Cholestasis v0.21 TJP2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 TJP2 Ivone Leong Gene: tjp2 has been classified as Green List (High Evidence).
Cholestasis v0.21 TALDO1 Ivone Leong Marked gene: TALDO1 as ready
Cholestasis v0.21 TALDO1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 TALDO1 Ivone Leong Gene: taldo1 has been classified as Green List (High Evidence).
Cholestasis v0.21 SLC25A13 Ivone Leong Marked gene: SLC25A13 as ready
Cholestasis v0.21 SLC25A13 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 SLC25A13 Ivone Leong Gene: slc25a13 has been classified as Green List (High Evidence).
Cholestasis v0.21 SERPINA1 Ivone Leong Marked gene: SERPINA1 as ready
Cholestasis v0.21 SERPINA1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 SERPINA1 Ivone Leong Gene: serpina1 has been classified as Green List (High Evidence).
Cholestasis v0.21 NR1H4 Ivone Leong Marked gene: NR1H4 as ready
Cholestasis v0.21 NR1H4 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NR1H4 Ivone Leong Gene: nr1h4 has been classified as Green List (High Evidence).
Cholestasis v0.21 NPC2 Ivone Leong Marked gene: NPC2 as ready
Cholestasis v0.21 NPC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NPC2 Ivone Leong Gene: npc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 NPC1 Ivone Leong Marked gene: NPC1 as ready
Cholestasis v0.21 NPC1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NPC1 Ivone Leong Gene: npc1 has been classified as Green List (High Evidence).
Cholestasis v0.21 NOTCH2 Ivone Leong Marked gene: NOTCH2 as ready
Cholestasis v0.21 NOTCH2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NOTCH2 Ivone Leong Gene: notch2 has been classified as Green List (High Evidence).
Cholestasis v0.21 MYO5B Ivone Leong Marked gene: MYO5B as ready
Cholestasis v0.21 MYO5B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 MYO5B Ivone Leong Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.21 JAG1 Ivone Leong Marked gene: JAG1 as ready
Cholestasis v0.21 JAG1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 JAG1 Ivone Leong Gene: jag1 has been classified as Green List (High Evidence).
Cholestasis v0.21 HSD3B7 Ivone Leong Marked gene: HSD3B7 as ready
Cholestasis v0.21 HSD3B7 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 HSD3B7 Ivone Leong Gene: hsd3b7 has been classified as Green List (High Evidence).
Cholestasis v0.21 DCDC2 Ivone Leong Marked gene: DCDC2 as ready
Cholestasis v0.21 DCDC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 DCDC2 Ivone Leong Gene: dcdc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 CYP27A1 Ivone Leong Marked gene: CYP27A1 as ready
Cholestasis v0.21 CYP27A1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 CYP27A1 Ivone Leong Gene: cyp27a1 has been classified as Green List (High Evidence).
Cholestasis v0.21 CLDN1 Ivone Leong Marked gene: CLDN1 as ready
Cholestasis v0.21 CLDN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 CLDN1 Ivone Leong Gene: cldn1 has been classified as Green List (High Evidence).
Cholestasis v0.21 BAAT Ivone Leong Marked gene: BAAT as ready
Cholestasis v0.21 BAAT Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 BAAT Ivone Leong Gene: baat has been classified as Green List (High Evidence).
Cholestasis v0.21 ATP8B1 Ivone Leong Marked gene: ATP8B1 as ready
Cholestasis v0.21 ATP8B1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ATP8B1 Ivone Leong Gene: atp8b1 has been classified as Green List (High Evidence).
Cholestasis v0.21 AKR1D1 Ivone Leong Marked gene: AKR1D1 as ready
Cholestasis v0.21 AKR1D1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 AKR1D1 Ivone Leong Gene: akr1d1 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB4 Ivone Leong Marked gene: ABCB4 as ready
Cholestasis v0.21 ABCB4 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCB4 Ivone Leong Gene: abcb4 has been classified as Green List (High Evidence).
Cholestasis v0.21 ALDOB Ivone Leong Marked gene: ALDOB as ready
Cholestasis v0.21 ALDOB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green
Cholestasis v0.21 ALDOB Ivone Leong Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.21 AMACR Ivone Leong Marked gene: AMACR as ready
Cholestasis v0.21 AMACR Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 AMACR Ivone Leong Gene: amacr has been classified as Green List (High Evidence).
Cholestasis v0.21 AMACR Ivone Leong commented on gene: AMACR: Miranda Durkie (Sheffield Diagnostic Genetics Service) discussed with Simon Olpin (Sheffield Children's NHS Foundation Trust) about the inclusion of AMARC on this panel. He recommends that the gene remains as a green gene on the panel and that he has diagnosed 3 cases of AMARC deficiency in the clinic.
Cholestasis v0.21 ABCC2 Ivone Leong Marked gene: ABCC2 as ready
Cholestasis v0.21 ABCC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCC2 Ivone Leong Gene: abcc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB11 Ivone Leong Marked gene: ABCB11 as ready
Cholestasis v0.21 ABCB11 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCB11 Ivone Leong Gene: abcb11 has been classified as Green List (High Evidence).
Cholestasis v0.21 SERPINA1 Ivone Leong Publications for gene: SERPINA1 were set to 26126923; 26003074; 24750955
Cholestasis v0.20 GNAS Ivone Leong Marked gene: GNAS as ready
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Cholestasis v0.20 GNAS Ivone Leong Classified gene: GNAS as Amber List (moderate evidence)
Cholestasis v0.20 GNAS Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence for this gene to be rated green. Therefore, demoted from green to amber.
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.26 PRSS1 Anna de Burca Classified gene: PRSS1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.26 PRSS1 Anna de Burca Gene: prss1 has been classified as Amber List (Moderate Evidence).
Familial rhabdoid tumours v0.7 Ivone Leong Panel name changed from GMS - Familial rhabdoid tumours to Rhabdoid tumour predisposition
Unexplained kidney failure in young people v1.62 WT1 Eleanor Williams Phenotypes for gene: WT1 were changed from Nephrotic syndrome, type 4 256370 to Nephrotic syndrome, type 4 256370
Unexplained kidney failure in young people v1.61 VPS33B Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1 208085
Unexplained kidney failure in young people v1.60 VHL Eleanor Williams Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome 193300 to von Hippel-Lindau syndrome 193300
Unexplained kidney failure in young people v1.59 UMOD Eleanor Williams Phenotypes for gene: UMOD were changed from Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860 to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
Unexplained kidney failure in young people v1.58 TTC21B Eleanor Williams Phenotypes for gene: TTC21B were changed from Nephronophthisis 12 613820 to Nephronophthisis 12 613820
Inherited pancreatic cancer v0.25 PRSS1 Ivone Leong Mode of inheritance for gene: PRSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.24 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.57 TSC2 Eleanor Williams Phenotypes for gene: TSC2 were changed from Tuberous sclerosis-2 613254 to Tuberous sclerosis-2 613254
Inherited pancreatic cancer v0.23 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.22 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.56 TSC1 Eleanor Williams Phenotypes for gene: TSC1 were changed from Tuberous sclerosis-1 191100 to Tuberous sclerosis-1 191100
Inherited pancreatic cancer v0.21 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.55 TRPC6 Eleanor Williams Phenotypes for gene: TRPC6 were changed from Glomerulosclerosis, focal segmental, 2 603965 to Glomerulosclerosis, focal segmental, 2 603965
Inherited pancreatic cancer v0.20 BRCA1 Ivone Leong Mode of inheritance for gene: BRCA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.54 TMEM67 Eleanor Williams Phenotypes for gene: TMEM67 were changed from COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991 to COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; Nephronophthisis 11 613550; {Bardet-Biedl syndrome 14, modifier of} 615991
Inherited pancreatic cancer v0.19 STK11 Ivone Leong Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.18 PALB2 Ivone Leong Mode of inheritance for gene: PALB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.17 CDKN2A Ivone Leong Mode of inheritance for gene: CDKN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.16 CDK4 Ivone Leong Mode of inheritance for gene: CDK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited pancreatic cancer v0.15 BRCA2 Ivone Leong Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.53 TBX18 Eleanor Williams Phenotypes for gene: TBX18 were changed from Congenital anomalies of kidney and urinary tract 2 143400 to Congenital anomalies of kidney and urinary tract 2 143400
Unexplained kidney failure in young people v1.52 SMARCAL1 Eleanor Williams Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia 242900
Unexplained kidney failure in young people v1.51 SGPL1 Eleanor Williams Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14 617575 to Nephrotic syndrome 14 617575
Unexplained kidney failure in young people v1.50 SCARB2 Eleanor Williams Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure 254900 to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Unexplained kidney failure in young people v1.49 RRM2B Eleanor Williams Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Intellectual disability v2.620 RNF135 Konstantinos Varvagiannis reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: None; Publications: 30665703, 17632510, 26368817; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.19 SDHD Ivone Leong Mode of inheritance for gene: SDHD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.18 SDHC Ivone Leong Mode of inheritance for gene: SDHC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.17 SDHB Ivone Leong Mode of inheritance for gene: SDHB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.16 SDHA Ivone Leong Mode of inheritance for gene: SDHA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.15 PDGFRA Ivone Leong Mode of inheritance for gene: PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.48 RPGRIP1L Eleanor Williams Phenotypes for gene: RPGRIP1L were changed from COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561 to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561
Inherited predisposition to GIST v0.14 NF1 Ivone Leong Mode of inheritance for gene: NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v0.13 KIT Ivone Leong Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited predisposition to GIST v0.12 KIT Ivone Leong Mode of inheritance for gene: KIT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAKUT v1.34 RET Eleanor Williams Phenotypes for gene: RET were changed from Renal Adysplasia; Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623 to Renal Adysplasia; Multiple endocrine neoplasia IIA, 171400; Medullary thyroid carcinoma, 155240; Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Pheochromocytoma, 171300; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623
Inherited MMR deficiency (Lynch syndrome) v0.9 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited MMR deficiency (Lynch syndrome) v0.8 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited MMR deficiency (Lynch syndrome) v0.7 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited MMR deficiency (Lynch syndrome) v0.6 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited MMR deficiency (Lynch syndrome) v0.5 EPCAM Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.47 PLCE1 Eleanor Williams Phenotypes for gene: PLCE1 were changed from Nephrotic syndrome, type 3 610725 to Nephrotic syndrome, type 3 610725
Unexplained kidney failure in young people v1.46 OFD1 Eleanor Williams Phenotypes for gene: OFD1 were changed from Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Unexplained kidney failure in young people v1.45 NUP93 Eleanor Williams Phenotypes for gene: NUP93 were changed from Nephrotic syndrome, type 12 616892 to Nephrotic syndrome, type 12 616892
Unexplained kidney failure in young people v1.44 NUP107 Eleanor Williams Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11 616730 to Nephrotic syndrome, type 11 616730
Unexplained kidney failure in young people v1.43 NPHS2 Eleanor Williams Phenotypes for gene: NPHS2 were changed from Nephrotic syndrome, type 2 600995 to Nephrotic syndrome, type 2 600995
Unexplained kidney failure in young people v1.42 NPHS1 Eleanor Williams Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1 256300 to Nephrotic syndrome, type 1 256300
Unexplained kidney failure in young people v1.41 NPHP4 Eleanor Williams Phenotypes for gene: NPHP4 were changed from Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996 to Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
CAKUT v1.33 NPHP3 Eleanor Williams Phenotypes for gene: NPHP3 were changed from Nephronophthisis 3, 604387Renal-hepatic-pancreatic dysplasia 1, 208540Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia to Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia
Inherited polyposis and early onset colorectal cancer - germline testing v0.35 POLE Ivone Leong Mode of inheritance for gene: POLE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.34 POLD1 Ivone Leong Mode of inheritance for gene: POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.33 NTHL1 Ivone Leong Mode of inheritance for gene: NTHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people v1.40 MYO1E Eleanor Williams Phenotypes for gene: MYO1E were changed from Glomerulosclerosis, focal segmental, 6 614131 to Glomerulosclerosis, focal segmental, 6 614131
Intellectual disability v2.620 MTR Eleanor Williams Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634; METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG) to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG)
Inherited polyposis and early onset colorectal cancer - germline testing v0.32 STK11 Ivone Leong Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.31 SMAD4 Ivone Leong Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Proteinuric renal disease v1.14 MTR Eleanor Williams Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel) to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)
Inherited polyposis and early onset colorectal cancer - germline testing v0.30 RNF43 Ivone Leong Mode of inheritance for gene: RNF43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.29 PTEN Ivone Leong Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.28 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.27 MUTYH Ivone Leong Mode of inheritance for gene: MUTYH was changed from to BIALLELIC, autosomal or pseudoautosomal
Inherited polyposis and early onset colorectal cancer - germline testing v0.26 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.25 MSH3 Ivone Leong Mode of inheritance for gene: MSH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.24 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.23 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.39 MTR Eleanor Williams Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel) to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)
Inherited polyposis and early onset colorectal cancer - germline testing v0.22 GREM1 Ivone Leong Mode of inheritance for gene: GREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.21 EPCAM Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.20 BMPR1A Ivone Leong Mode of inheritance for gene: BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.19 APC Ivone Leong Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.38 LRIG2 Eleanor Williams Phenotypes for gene: LRIG2 were changed from Urofacial syndrome 2 615112 to Urofacial syndrome 2 615112
Unexplained kidney failure in young people v1.37 LMX1B Eleanor Williams Phenotypes for gene: LMX1B were changed from Nail-patella syndrome 161200 to Nail-patella syndrome 161200
Unexplained kidney failure in young people v1.36 LAMB2 Eleanor Williams Phenotypes for gene: LAMB2 were changed from Nephrotic syndrome, type 5, with or without ocular abnormalities 614199; Pierson syndrome 609049 to Nephrotic syndrome, type 5, with or without ocular abnormalities 614199; Pierson syndrome 609049
Unexplained kidney failure in young people v1.35 ITGA3 Eleanor Williams Phenotypes for gene: ITGA3 were changed from Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Unexplained kidney failure in young people v1.34 INVS Eleanor Williams Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile 602088 to Nephronophthisis 2, infantile 602088
Unexplained kidney failure in young people v1.33 INF2 Eleanor Williams Phenotypes for gene: INF2 were changed from Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237 to Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237
Unexplained kidney failure in young people v1.32 INF2 Eleanor Williams Phenotypes for gene: INF2 were changed from Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237 to Charcot-Marie-Tooth disease, dominant intermediate E 614455; Glomerulosclerosis, focal segmental, 5 613237
Inherited renal cancer v0.25 PMS2 Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.31 HPSE2 Eleanor Williams Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1 236730 to Urofacial syndrome 1 236730
Inherited renal cancer v0.24 MSH6 Ivone Leong Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.23 MSH2 Ivone Leong Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v0.22 MLH1 Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bilateral congenital or childhood onset cataracts v1.25 EYA1 Eleanor Williams Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780 to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780
CAKUT v1.32 EYA1 Eleanor Williams Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780; Branchiootorenal Spectrum Disorders to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780; Branchiootorenal Spectrum Disorders
Cystic kidney disease v1.36 DZIP1L Eleanor Williams Phenotypes for gene: DZIP1L were changed from ARPKD; Polycystic kidney disease 5 617610 to ARPKD; Polycystic kidney disease 5 617610
Inherited renal cancer v0.21 FH Ivone Leong Publications for gene: FH were set to PMID: 27899189
Inherited renal cancer v0.19 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to PMID:25873077
Unexplained kidney failure in young people v1.30 CTNS Eleanor Williams Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800 to Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800
Unexplained kidney failure in young people v1.29 COQ6 Eleanor Williams Phenotypes for gene: COQ6 were changed from Coenzyme Q10 deficiency, primary, 6 614650 to Coenzyme Q10 deficiency, primary, 6 614650
Unexplained kidney failure in young people v1.28 COQ2 Eleanor Williams Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 607426 to Coenzyme Q10 deficiency, primary, 1 607426
Unexplained kidney failure in young people v1.27 COL4A5 Eleanor Williams Phenotypes for gene: COL4A5 were changed from Alport syndrome 301050 to Alport syndrome 301050
Familial melanoma v0.17 TERT Ivone Leong Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.16 POT1 Ivone Leong Mode of inheritance for gene: POT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.26 CHD7 Eleanor Williams Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
Familial melanoma v0.15 BRCA2 Ivone Leong Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people v1.25 CFH Eleanor Williams Phenotypes for gene: CFH were changed from Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
Familial melanoma v0.14 ACD Ivone Leong Mode of inheritance for gene: ACD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial rhabdoid tumours v0.6 SMARCB1 Ivone Leong Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial rhabdoid tumours v0.5 SMARCA4 Ivone Leong Mode of inheritance for gene: SMARCA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.13 CDKN2A Ivone Leong Mode of inheritance for gene: CDKN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.12 CDK4 Ivone Leong Mode of inheritance for gene: CDK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial melanoma v0.11 BAP1 Ivone Leong Mode of inheritance for gene: BAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAKUT v1.31 BSND Eleanor Williams Phenotypes for gene: BSND were changed from Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 to Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
Nephrocalcinosis or nephrolithiasis v1.17 BSND Eleanor Williams Phenotypes for gene: BSND were changed from Bartter Syndrome; Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 to Bartter Syndrome; Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
Unexplained kidney failure in young people v1.24 BSND Eleanor Williams Phenotypes for gene: BSND were changed from Bartter syndrome, type 4a, 602522Sensorineural deafness with mild renal dysfunction, 602522 to Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
CAKUT v1.30 AGTR1 Eleanor Williams Phenotypes for gene: AGTR1 were changed from Renal Tubular Dysgenesis; Hypertension, essential, 145500Renal tubular dysgenesis, 267430 to Renal Tubular Dysgenesis; Hypertension, essential, 145500; Renal tubular dysgenesis, 267430
Cystic kidney disease v1.35 PKD2 Eleanor Williams Publications for gene: PKD2 were set to
Cystic kidney disease v1.34 DNAJB11 Eleanor Williams Phenotypes for gene: DNAJB11 were changed from cystic kidney disease; end stage renal failure; non-enlarged kidney to cystic kidney disease; end stage renal failure; non-enlarged kidney; Polycystic kidney disease; Tubulointerstitial kidney disease
Pituitary hormone deficiency v1.0 Ivone Leong promoted panel to version 1.0
Hypophosphataemia or rickets v1.0 Ivone Leong promoted panel to version 1.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.0 Ivone Leong promoted panel to version 1.0
Childhood solid tumours v1.23 XPC Lara Hawkes reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 XPA Lara Hawkes reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 WT1 Lara Hawkes reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Wilms tumor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 WRN Lara Hawkes reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 VHL Lara Hawkes reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paraganglioma & Pheochromocytoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 TSC2 Lara Hawkes reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tuberous sclerosis type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 TSC1 Lara Hawkes reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tuberous sclerosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 TRIP13 Lara Hawkes reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 3 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 TRIM37 Lara Hawkes reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 TP53 Lara Hawkes reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Li Fraumeni Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 TNFRSF11A Lara Hawkes reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone, Polyostotic osteolytic dysplasia (hereditary expansile), Osteosarcoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 TERT Lara Hawkes reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dynkeratosis Congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood solid tumours v1.23 T Lara Hawkes reviewed gene: T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Chordoma, Chordoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SUFU Lara Hawkes reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SUFU associated Medulloblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 STK11 Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peutz Jeghers syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SQSTM1 Lara Hawkes reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone 3 167250, Osteosarcoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SOS1 Lara Hawkes reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SMARCB1 Lara Hawkes reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atypical rhabdoid tumor predisposition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SMARCA4 Lara Hawkes reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: predisposition to small cell ca Ovary with hypercalcemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SMAD4 Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SHOC2 Lara Hawkes reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 SLX4 Lara Hawkes reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 REST Lara Hawkes reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616806; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood solid tumours v1.23 RET Lara Hawkes reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple Endocrine Neoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 RECQL4 Lara Hawkes reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rothmund Thomson Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 RB1 Lara Hawkes reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 RAF1 Lara Hawkes reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 RAD51C Lara Hawkes reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 PTPN11 Lara Hawkes reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PTCH1 Lara Hawkes reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PRKAR1A Lara Hawkes reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Carney Complex, Familial Primary Pigmented Nodular Adrenocortical disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 PHOX2B Lara Hawkes reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Clustering of Neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PDGFRA Lara Hawkes reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial GIST, Gastrointestinal stromal tumor, somatic 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 PALB2 Lara Hawkes reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 NSD1 Lara Hawkes reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sotos syndrome 1, 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood solid tumours v1.23 NRAS Lara Hawkes reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 NOP10 Lara Hawkes reviewed gene: NOP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 NHP2 Lara Hawkes reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 NF2 Lara Hawkes reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acoustic neuroma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 NF1 Lara Hawkes reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 NBN Lara Hawkes reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen Breakage Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 MTAP Lara Hawkes reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UPS of bone, Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lynch Syndrome / CMMRD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 MEN1 Lara Hawkes reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple Endocrine Neoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 MAP2K2 Lara Hawkes reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 MAP2K1 Lara Hawkes reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 KRAS Lara Hawkes reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 HRAS Lara Hawkes reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 GPC3 Lara Hawkes reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, 312870, Wilms tumor, somatic, 194070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood solid tumours v1.23 FANCL Lara Hawkes reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCI Lara Hawkes reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCG Lara Hawkes reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCF Lara Hawkes reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCE Lara Hawkes reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCD2 Lara Hawkes reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCC Lara Hawkes reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 FANCB Lara Hawkes reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group B, 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood solid tumours v1.23 FANCA Lara Hawkes reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 EZH2 Lara Hawkes reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weaver syndrome, 277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 ERCC5 Lara Hawkes reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 ERCC4 Lara Hawkes reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 ERCC3 Lara Hawkes reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 ERCC2 Lara Hawkes reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 ERCC1 Lara Hawkes reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 DIS3L2 Lara Hawkes reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perlman syndrome, 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 DICER1 Lara Hawkes reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DICER1 syndrome, Familial Multinodular Goiter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 DDB2 Lara Hawkes reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 CDKN1C Lara Hawkes reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 CBL Lara Hawkes reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome, CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalie; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 BUB1B Lara Hawkes reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 BRIP1 Lara Hawkes reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Breast and Ovarian Cancer; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 BRCA1 Lara Hawkes reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Breast and Ovarian Cancer; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 BRAF Lara Hawkes reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 BMPR1A Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Mixed Polyposis Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 BLM Lara Hawkes reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 ATM Lara Hawkes reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia Telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood solid tumours v1.23 APC Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Adenomatous Polyposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.23 ALK Lara Hawkes reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.22 T Ivone Leong commented on gene: T: New gene name is TBXT
Childhood solid tumours v1.22 T Ivone Leong Deleted their comment
Childhood solid tumours v1.22 T Ivone Leong Marked gene: T as ready
Childhood solid tumours v1.22 T Ivone Leong Added comment: Comment when marking as ready: New gene name is TBXT
Childhood solid tumours v1.22 T Ivone Leong Gene: t has been classified as Red List (Low Evidence).
Childhood solid tumours v1.22 T Ivone Leong Tag new-gene-name tag was added to gene: T.
Childhood solid tumours v1.22 XPC Ivone Leong gene: XPC was added
gene: XPC was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: XPC was set to
Childhood solid tumours v1.22 XPA Ivone Leong gene: XPA was added
gene: XPA was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: XPA was set to
Childhood solid tumours v1.22 WT1 Ivone Leong Source Expert List was added to WT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 WRN Ivone Leong gene: WRN was added
gene: WRN was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: WRN was set to
Childhood solid tumours v1.22 VHL Ivone Leong gene: VHL was added
gene: VHL was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: VHL was set to
Childhood solid tumours v1.22 TSC2 Ivone Leong Source Expert List was added to TSC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 TSC1 Ivone Leong Source Expert List was added to TSC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 TRIP13 Ivone Leong Source Expert List was added to TRIP13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 TRIM37 Ivone Leong Source Expert List was added to TRIM37.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 TP53 Ivone Leong Source Expert List was added to TP53.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 TNFRSF11A Ivone Leong gene: TNFRSF11A was added
gene: TNFRSF11A was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: TNFRSF11A was set to
Childhood solid tumours v1.22 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: TERT was set to
Childhood solid tumours v1.22 T Ivone Leong gene: T was added
gene: T was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: T was set to
Childhood solid tumours v1.22 SUFU Ivone Leong gene: SUFU was added
gene: SUFU was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: SUFU was set to
Childhood solid tumours v1.22 STK11 Ivone Leong gene: STK11 was added
gene: STK11 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: STK11 was set to
Childhood solid tumours v1.22 SQSTM1 Ivone Leong gene: SQSTM1 was added
gene: SQSTM1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: SQSTM1 was set to
Childhood solid tumours v1.22 SOS1 Ivone Leong gene: SOS1 was added
gene: SOS1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: SOS1 was set to
Childhood solid tumours v1.22 SMARCB1 Ivone Leong Source Expert List was added to SMARCB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 SMARCA4 Ivone Leong Source Expert List was added to SMARCA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 SMAD4 Ivone Leong gene: SMAD4 was added
gene: SMAD4 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: SMAD4 was set to
Childhood solid tumours v1.22 SHOC2 Ivone Leong gene: SHOC2 was added
gene: SHOC2 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: SHOC2 was set to
Childhood solid tumours v1.22 SLX4 Ivone Leong Source Expert List was added to SLX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 REST Ivone Leong Source Expert List was added to REST.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 RET Ivone Leong Source Expert List was added to RET.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 RECQL4 Ivone Leong Source Expert List was added to RECQL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 RB1 Ivone Leong Source Expert List was added to RB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 RAF1 Ivone Leong gene: RAF1 was added
gene: RAF1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: RAF1 was set to
Childhood solid tumours v1.22 RAD51C Ivone Leong Source Expert List was added to RAD51C.
Childhood solid tumours v1.22 PTPN11 Ivone Leong Source Expert List was added to PTPN11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 PTEN Ivone Leong Source Expert List was added to PTEN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 PTCH1 Ivone Leong Source Expert List was added to PTCH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: PRKAR1A was set to
Childhood solid tumours v1.22 PMS2 Ivone Leong Source Expert List was added to PMS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 PHOX2B Ivone Leong Source Expert List was added to PHOX2B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 PDGFRA Ivone Leong gene: PDGFRA was added
gene: PDGFRA was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: PDGFRA was set to
Childhood solid tumours v1.22 PALB2 Ivone Leong Source Expert List was added to PALB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 NSD1 Ivone Leong Source Expert List was added to NSD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 NRAS Ivone Leong gene: NRAS was added
gene: NRAS was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: NRAS was set to
Childhood solid tumours v1.22 NOP10 Ivone Leong gene: NOP10 was added
gene: NOP10 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: NOP10 was set to
Childhood solid tumours v1.22 NHP2 Ivone Leong gene: NHP2 was added
gene: NHP2 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: NHP2 was set to
Childhood solid tumours v1.22 NF2 Ivone Leong Source Expert List was added to NF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 NF1 Ivone Leong Source Expert List was added to NF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 NBN Ivone Leong Source Expert List was added to NBN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 MTAP Ivone Leong gene: MTAP was added
gene: MTAP was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: MTAP was set to
Childhood solid tumours v1.22 MSH6 Ivone Leong Source Expert List was added to MSH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 MSH2 Ivone Leong Source Expert List was added to MSH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 MLH1 Ivone Leong Source Expert List was added to MLH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: MEN1 was set to
Childhood solid tumours v1.22 MAP2K2 Ivone Leong gene: MAP2K2 was added
gene: MAP2K2 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: MAP2K2 was set to
Childhood solid tumours v1.22 MAP2K1 Ivone Leong gene: MAP2K1 was added
gene: MAP2K1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: MAP2K1 was set to
Childhood solid tumours v1.22 KRAS Ivone Leong gene: KRAS was added
gene: KRAS was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: KRAS was set to
Childhood solid tumours v1.22 HRAS Ivone Leong Source Expert List was added to HRAS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 GPC3 Ivone Leong Source Expert List was added to GPC3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCL Ivone Leong Source Expert List was added to FANCL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCI Ivone Leong Source Expert List was added to FANCI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCG Ivone Leong Source Expert List was added to FANCG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCF Ivone Leong Source Expert List was added to FANCF.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCE Ivone Leong Source Expert List was added to FANCE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCD2 Ivone Leong Source Expert List was added to FANCD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCC Ivone Leong Source Expert List was added to FANCC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCB Ivone Leong Source Expert List was added to FANCB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 FANCA Ivone Leong Source Expert List was added to FANCA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 EZH2 Ivone Leong Source Expert List was added to EZH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 ERCC5 Ivone Leong gene: ERCC5 was added
gene: ERCC5 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: ERCC5 was set to
Childhood solid tumours v1.22 ERCC4 Ivone Leong Source Expert List was added to ERCC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 ERCC3 Ivone Leong gene: ERCC3 was added
gene: ERCC3 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: ERCC3 was set to
Childhood solid tumours v1.22 ERCC2 Ivone Leong gene: ERCC2 was added
gene: ERCC2 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: ERCC2 was set to
Childhood solid tumours v1.22 ERCC1 Ivone Leong gene: ERCC1 was added
gene: ERCC1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: ERCC1 was set to
Childhood solid tumours v1.22 DIS3L2 Ivone Leong Source Expert List was added to DIS3L2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 DICER1 Ivone Leong Source Expert List was added to DICER1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 DDB2 Ivone Leong gene: DDB2 was added
gene: DDB2 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: DDB2 was set to
Childhood solid tumours v1.22 CDKN1C Ivone Leong Source Expert List was added to CDKN1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 CBL Ivone Leong Source Expert List was added to CBL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 BUB1B Ivone Leong Source Expert List was added to BUB1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 BRIP1 Ivone Leong Source Expert List was added to BRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 BRCA2 Ivone Leong Source Expert List was added to BRCA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 BRCA1 Ivone Leong gene: BRCA1 was added
gene: BRCA1 was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: BRCA1 was set to
Childhood solid tumours v1.22 BRAF Ivone Leong gene: BRAF was added
gene: BRAF was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: BRAF was set to
Childhood solid tumours v1.22 BMPR1A Ivone Leong gene: BMPR1A was added
gene: BMPR1A was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: BMPR1A was set to
Childhood solid tumours v1.22 BLM Ivone Leong Source Expert List was added to BLM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 ATM Ivone Leong Source Expert List was added to ATM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 APC Ivone Leong Source Expert List was added to APC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood solid tumours v1.22 ALK Ivone Leong Source Expert List was added to ALK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Monogenic diabetes v1.0 Ivone Leong promoted panel to version 1.0
Inherited pancreatic cancer v0.13 STK11 Ivone Leong Classified gene: STK11 as Green List (high evidence)
Inherited pancreatic cancer v0.13 STK11 Ivone Leong Gene: stk11 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.12 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.12 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.11 PALB2 Ivone Leong Classified gene: PALB2 as Green List (high evidence)
Inherited pancreatic cancer v0.11 PALB2 Ivone Leong Gene: palb2 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.10 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.10 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.9 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.9 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.8 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.8 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.7 CDKN2A Ivone Leong Classified gene: CDKN2A as Green List (high evidence)
Inherited pancreatic cancer v0.7 CDKN2A Ivone Leong Gene: cdkn2a has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.6 CDK4 Ivone Leong Classified gene: CDK4 as Green List (high evidence)
Inherited pancreatic cancer v0.6 CDK4 Ivone Leong Gene: cdk4 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.5 BRCA2 Ivone Leong Classified gene: BRCA2 as Green List (high evidence)
Inherited pancreatic cancer v0.5 BRCA2 Ivone Leong Gene: brca2 has been classified as Green List (High Evidence).
Inherited pancreatic cancer v0.4 BRCA1 Ivone Leong Classified gene: BRCA1 as Amber List (moderate evidence)
Inherited pancreatic cancer v0.4 BRCA1 Ivone Leong Gene: brca1 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v0.3 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PRSS1 Rachel Robinson reviewed gene: PRSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 BRCA1 Rachel Robinson reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 STK11 Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PALB2 Rachel Robinson reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 CDKN2A Rachel Robinson reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 CDK4 Rachel Robinson reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 BRCA2 Rachel Robinson reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30558719; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited pancreatic cancer v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 PRSS1 Lara Hawkes reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 PALB2 Lara Hawkes reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 CDKN2A Lara Hawkes reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.3 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited pancreatic cancer v0.2 BRCA1 Ivone Leong gene: BRCA1 was added
gene: BRCA1 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: BRCA1 was set to
Inherited pancreatic cancer v0.2 STK11 Ivone Leong gene: STK11 was added
gene: STK11 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: STK11 was set to
Inherited pancreatic cancer v0.2 CDK4 Ivone Leong gene: CDK4 was added
gene: CDK4 was added to Inherited pancreatic cancer. Sources: NHS GMS
Mode of inheritance for gene: CDK4 was set to
Inherited pancreatic cancer v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PMS2 was set to
Inherited pancreatic cancer v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH6 was set to
Inherited pancreatic cancer v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH2 was set to
Inherited pancreatic cancer v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MLH1 was set to
Inherited pancreatic cancer v0.2 PRSS1 Ivone Leong gene: PRSS1 was added
gene: PRSS1 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PRSS1 was set to
Inherited pancreatic cancer v0.2 PALB2 Ivone Leong gene: PALB2 was added
gene: PALB2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PALB2 was set to
Inherited pancreatic cancer v0.2 CDKN2A Ivone Leong gene: CDKN2A was added
gene: CDKN2A was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDKN2A was set to
Inherited pancreatic cancer v0.2 BRCA2 Ivone Leong gene: BRCA2 was added
gene: BRCA2 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS
Mode of inheritance for gene: BRCA2 was set to
Intellectual disability v2.619 MED23 Louise Daugherty Classified gene: MED23 as Green List (high evidence)
Intellectual disability v2.619 MED23 Louise Daugherty Added comment: Comment on list classification: Removed Watchlist tag. Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Intellectual disability v2.619 MED23 Louise Daugherty Gene: med23 has been classified as Green List (High Evidence).
Intellectual disability v2.618 MED23 Louise Daugherty Tag watchlist was removed from gene: MED23.
Inherited predisposition to GIST v0.10 SDHD Ivone Leong Classified gene: SDHD as Green List (high evidence)
Inherited predisposition to GIST v0.10 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.9 SDHC Ivone Leong Classified gene: SDHC as Green List (high evidence)
Inherited predisposition to GIST v0.9 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.8 SDHB Ivone Leong Classified gene: SDHB as Green List (high evidence)
Inherited predisposition to GIST v0.8 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Intellectual disability v2.618 MED23 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Intellectual disability v2.618 MED23 Louise Daugherty Publications for gene: MED23 were set to 21868677; 25845469; 25527630; 22129135
Inherited predisposition to GIST v0.7 SDHA Ivone Leong Classified gene: SDHA as Green List (high evidence)
Inherited predisposition to GIST v0.7 SDHA Ivone Leong Gene: sdha has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.6 PDGFRA Ivone Leong Classified gene: PDGFRA as Green List (high evidence)
Inherited predisposition to GIST v0.6 PDGFRA Ivone Leong Gene: pdgfra has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.5 NF1 Ivone Leong Classified gene: NF1 as Green List (high evidence)
Inherited predisposition to GIST v0.5 NF1 Ivone Leong Gene: nf1 has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.4 KIT Ivone Leong Classified gene: KIT as Green List (high evidence)
Inherited predisposition to GIST v0.4 KIT Ivone Leong Gene: kit has been classified as Green List (High Evidence).
Inherited predisposition to GIST v0.3 NF1 Rachel Robinson reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 SDHD Rachel Robinson reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 SDHC Rachel Robinson reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 SDHB Rachel Robinson reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 SDHA Rachel Robinson reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 PDGFRA Rachel Robinson reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 KIT Rachel Robinson reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited predisposition to GIST v0.3 SDHD Lara Hawkes reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.3 SDHC Lara Hawkes reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.3 SDHB Lara Hawkes reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.3 SDHA Lara Hawkes reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.3 PDGFRA Lara Hawkes reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.3 KIT Lara Hawkes reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited predisposition to GIST v0.2 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to Inherited predisposition to GIST. Sources: NHS GMS
Mode of inheritance for gene: NF1 was set to
Inherited predisposition to GIST v0.2 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: SDHD was set to
Inherited predisposition to GIST v0.2 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: SDHC was set to
Inherited predisposition to GIST v0.2 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: SDHB was set to
Inherited predisposition to GIST v0.2 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: SDHA was set to
Inherited predisposition to GIST v0.2 PDGFRA Ivone Leong gene: PDGFRA was added
gene: PDGFRA was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PDGFRA was set to
Inherited predisposition to GIST v0.2 KIT Ivone Leong gene: KIT was added
gene: KIT was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS
Mode of inheritance for gene: KIT was set to
Familial melanoma v0.9 TERF2IP Ivone Leong Classified gene: TERF2IP as Amber List (moderate evidence)
Familial melanoma v0.9 TERF2IP Ivone Leong Gene: terf2ip has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.8 CDKN2A Ivone Leong Classified gene: CDKN2A as Green List (high evidence)
Familial melanoma v0.8 CDKN2A Ivone Leong Gene: cdkn2a has been classified as Green List (High Evidence).
Familial melanoma v0.7 CDK4 Ivone Leong Classified gene: CDK4 as Green List (high evidence)
Familial melanoma v0.7 CDK4 Ivone Leong Gene: cdk4 has been classified as Green List (High Evidence).
Familial melanoma v0.6 BRCA2 Ivone Leong Classified gene: BRCA2 as Amber List (moderate evidence)
Familial melanoma v0.6 BRCA2 Ivone Leong Gene: brca2 has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.5 BAP1 Ivone Leong Classified gene: BAP1 as Green List (high evidence)
Familial melanoma v0.5 BAP1 Ivone Leong Gene: bap1 has been classified as Green List (High Evidence).
Familial melanoma v0.4 ACD Ivone Leong Classified gene: ACD as Amber List (moderate evidence)
Familial melanoma v0.4 ACD Ivone Leong Gene: acd has been classified as Amber List (Moderate Evidence).
Familial melanoma v0.3 POT1 Rachel Robinson reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 TERT Rachel Robinson reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 CDK4 Rachel Robinson reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 CDKN2A Rachel Robinson reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 BAP1 Rachel Robinson reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial melanoma v0.3 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 POT1 Lara Hawkes reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 ACD Lara Hawkes reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 TERF2IP Lara Hawkes reviewed gene: TERF2IP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 TERT Lara Hawkes reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 CDKN2A Lara Hawkes reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 CDK4 Lara Hawkes reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.3 BAP1 Lara Hawkes reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial melanoma v0.2 BRCA2 Ivone Leong gene: BRCA2 was added
gene: BRCA2 was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: BRCA2 was set to
Familial melanoma v0.2 POT1 Ivone Leong gene: POT1 was added
gene: POT1 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: POT1 was set to
Familial melanoma v0.2 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: ACD was set to
Familial melanoma v0.2 TERF2IP Ivone Leong gene: TERF2IP was added
gene: TERF2IP was added to Familial melanoma. Sources: NHS GMS
Mode of inheritance for gene: TERF2IP was set to
Familial melanoma v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: TERT was set to
Familial melanoma v0.2 CDKN2A Ivone Leong gene: CDKN2A was added
gene: CDKN2A was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDKN2A was set to
Familial melanoma v0.2 CDK4 Ivone Leong gene: CDK4 was added
gene: CDK4 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: CDK4 was set to
Familial melanoma v0.2 BAP1 Ivone Leong gene: BAP1 was added
gene: BAP1 was added to Familial melanoma. Sources: Expert List,NHS GMS
Mode of inheritance for gene: BAP1 was set to
Inherited renal cancer v0.18 TMEM127 Ivone Leong Classified gene: TMEM127 as Green List (high evidence)
Inherited renal cancer v0.18 TMEM127 Ivone Leong Gene: tmem127 has been classified as Green List (High Evidence).
Inherited renal cancer v0.17 SDHD Ivone Leong Classified gene: SDHD as Green List (high evidence)
Inherited renal cancer v0.17 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited renal cancer v0.16 SDHC Ivone Leong Classified gene: SDHC as Green List (high evidence)
Inherited renal cancer v0.16 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited renal cancer v0.15 MITF Ivone Leong Classified gene: MITF as Amber List (moderate evidence)
Inherited renal cancer v0.15 MITF Ivone Leong Gene: mitf has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.14 CDKN2B Ivone Leong Classified gene: CDKN2B as Green List (high evidence)
Inherited renal cancer v0.14 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Green List (High Evidence).
Inherited renal cancer v0.13 VHL Ivone Leong Classified gene: VHL as Green List (high evidence)
Inherited renal cancer v0.13 VHL Ivone Leong Gene: vhl has been classified as Green List (High Evidence).
Inherited renal cancer v0.12 SDHB Ivone Leong Classified gene: SDHB as Green List (high evidence)
Inherited renal cancer v0.12 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Inherited renal cancer v0.11 PTEN Ivone Leong Classified gene: PTEN as Green List (high evidence)
Inherited renal cancer v0.11 PTEN Ivone Leong Gene: pten has been classified as Green List (High Evidence).
Inherited renal cancer v0.10 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Inherited renal cancer v0.10 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.9 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Inherited renal cancer v0.9 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.8 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Inherited renal cancer v0.8 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.7 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Inherited renal cancer v0.7 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Inherited renal cancer v0.6 MET Ivone Leong Classified gene: MET as Green List (high evidence)
Inherited renal cancer v0.6 MET Ivone Leong Gene: met has been classified as Green List (High Evidence).
Inherited renal cancer v0.5 FLCN Ivone Leong Classified gene: FLCN as Green List (high evidence)
Inherited renal cancer v0.5 FLCN Ivone Leong Gene: flcn has been classified as Green List (High Evidence).
Inherited renal cancer v0.4 FH Ivone Leong Classified gene: FH as Green List (high evidence)
Inherited renal cancer v0.4 FH Ivone Leong Gene: fh has been classified as Green List (High Evidence).
Inherited renal cancer v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 BAP1 Lara Hawkes reviewed gene: BAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 VHL Lara Hawkes reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 SDHB Lara Hawkes reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 MET Lara Hawkes reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 FLCN Lara Hawkes reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.3 FH Lara Hawkes reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited renal cancer v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: PMS2 was set to
Inherited renal cancer v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MSH6 was set to
Inherited renal cancer v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MSH2 was set to
Inherited renal cancer v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited renal cancer. Sources: Expert List
Mode of inheritance for gene: MLH1 was set to
Inherited renal cancer v0.2 BAP1 Ivone Leong Source Expert List was added to BAP1.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 VHL Ivone Leong Source Expert List was added to VHL.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 SDHB Ivone Leong Source Expert List was added to SDHB.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 PTEN Ivone Leong Source Expert List was added to PTEN.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 MET Ivone Leong Source Expert List was added to MET.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 FLCN Ivone Leong Source Expert List was added to FLCN.
Rating Changed from No List (delete) to Red List (low evidence)
Inherited renal cancer v0.2 FH Ivone Leong Source Expert List was added to FH.
Rating Changed from No List (delete) to Red List (low evidence)
Monogenic diabetes v0.29 PPP1R15B Ivone Leong Mode of inheritance for gene: PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes v0.28 PAX6 Ivone Leong Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic diabetes v0.27 DYRK1B Ivone Leong Mode of inheritance for gene: DYRK1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic diabetes v0.26 DNAJC3 Ivone Leong Mode of inheritance for gene: DNAJC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes v0.25 APPL1 Ivone Leong Mode of inheritance for gene: APPL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis and early onset colorectal cancer - germline testing v0.17 STK11 Ivone Leong Classified gene: STK11 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.17 STK11 Ivone Leong Gene: stk11 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.16 SMAD4 Ivone Leong Classified gene: SMAD4 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.16 SMAD4 Ivone Leong Gene: smad4 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.15 RNF43 Ivone Leong Classified gene: RNF43 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.15 RNF43 Ivone Leong Gene: rnf43 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.14 PTEN Ivone Leong Classified gene: PTEN as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.14 PTEN Ivone Leong Gene: pten has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.13 PMS2 Ivone Leong Classified gene: PMS2 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.13 PMS2 Ivone Leong Gene: pms2 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.12 MUTYH Ivone Leong Classified gene: MUTYH as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.12 MUTYH Ivone Leong Gene: mutyh has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.11 MSH6 Ivone Leong Classified gene: MSH6 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.11 MSH6 Ivone Leong Gene: msh6 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.10 MSH3 Ivone Leong Classified gene: MSH3 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.10 MSH3 Ivone Leong Gene: msh3 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.9 MSH2 Ivone Leong Classified gene: MSH2 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.9 MSH2 Ivone Leong Gene: msh2 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.8 MLH1 Ivone Leong Classified gene: MLH1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.8 MLH1 Ivone Leong Gene: mlh1 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.7 GREM1 Ivone Leong Classified gene: GREM1 as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.7 GREM1 Ivone Leong Gene: grem1 has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.6 EPCAM Ivone Leong Classified gene: EPCAM as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.6 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.5 BMPR1A Ivone Leong Classified gene: BMPR1A as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.5 BMPR1A Ivone Leong Gene: bmpr1a has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.4 APC Ivone Leong Classified gene: APC as Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.4 APC Ivone Leong Gene: apc has been classified as Green List (High Evidence).
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 RNF43 Rachel Robinson reviewed gene: RNF43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 STK11 Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 SMAD4 Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 PTEN Rachel Robinson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 POLD1 Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 POLE Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 NTHL1 Rachel Robinson reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MUTYH Rachel Robinson reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MSH3 Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 GREM1 Rachel Robinson reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 EPCAM Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 BMPR1A Rachel Robinson reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 APC Rachel Robinson reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 POLD1 Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 NTHL1 Lara Hawkes reviewed gene: NTHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 POLE Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 STK11 Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 SMAD4 Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MUTYH Lara Hawkes reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 BMPR1A Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.3 APC Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 RNF43 Ivone Leong gene: RNF43 was added
gene: RNF43 was added to Inherited polyposis. Sources: NHS GMS
Mode of inheritance for gene: RNF43 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 MSH3 Ivone Leong gene: MSH3 was added
gene: MSH3 was added to Inherited polyposis. Sources: NHS GMS
Mode of inheritance for gene: MSH3 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 GREM1 Ivone Leong gene: GREM1 was added
gene: GREM1 was added to Inherited polyposis. Sources: NHS GMS
Mode of inheritance for gene: GREM1 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS
Mode of inheritance for gene: EPCAM was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 POLD1 Ivone Leong gene: POLD1 was added
gene: POLD1 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: POLD1 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 NTHL1 Ivone Leong gene: NTHL1 was added
gene: NTHL1 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: NTHL1 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 POLE Ivone Leong gene: POLE was added
gene: POLE was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: POLE was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 STK11 Ivone Leong gene: STK11 was added
gene: STK11 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: STK11 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 SMAD4 Ivone Leong gene: SMAD4 was added
gene: SMAD4 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: SMAD4 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 PTEN Ivone Leong gene: PTEN was added
gene: PTEN was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PTEN was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: PMS2 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 MUTYH Ivone Leong gene: MUTYH was added
gene: MUTYH was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MUTYH was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH6 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MSH2 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: MLH1 was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 BMPR1A Ivone Leong gene: BMPR1A was added
gene: BMPR1A was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: BMPR1A was set to
Inherited polyposis and early onset colorectal cancer - germline testing v0.2 APC Ivone Leong gene: APC was added
gene: APC was added to Inherited polyposis. Sources: Expert List,NHS GMS
Mode of inheritance for gene: APC was set to
Intellectual disability v2.617 FRMPD4 Konstantinos Varvagiannis reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29267967, 25644381; Phenotypes: Mental retardation, X-linked 104, 300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 EPCAM Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited MMR deficiency (Lynch syndrome) v0.3 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited MMR deficiency (Lynch syndrome) v0.3 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited MMR deficiency (Lynch syndrome) v0.3 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited MMR deficiency (Lynch syndrome) v0.3 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited MMR deficiency (Lynch syndrome) v0.3 EPCAM Lara Hawkes reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited MMR deficiency (Lynch syndrome) v0.2 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS
Mode of inheritance for gene: PMS2 was set to
Inherited MMR deficiency (Lynch syndrome) v0.2 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH6 was set to
Inherited MMR deficiency (Lynch syndrome) v0.2 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH2 was set to
Inherited MMR deficiency (Lynch syndrome) v0.2 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS
Mode of inheritance for gene: MLH1 was set to
Inherited MMR deficiency (Lynch syndrome) v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS
Mode of inheritance for gene: EPCAM was set to
GI tract tumours v1.10 RNF43 Rachel Robinson reviewed gene: RNF43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 STK11 Rachel Robinson reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 SMAD4 Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 PTEN Rachel Robinson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 PMS2 Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLD1 Rachel Robinson reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLE Rachel Robinson reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 NTHL1 Rachel Robinson reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MUTYH Rachel Robinson reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MSH3 Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 GREM1 Rachel Robinson reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 EPCAM Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 BMPR1A Rachel Robinson reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 APC Rachel Robinson reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
GI tract tumours v1.10 POLD1 Lara Hawkes reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 NTHL1 Lara Hawkes reviewed gene: NTHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
GI tract tumours v1.10 POLE Lara Hawkes reviewed gene: POLE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 STK11 Lara Hawkes reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 SMAD4 Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 PTEN Lara Hawkes reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MUTYH Lara Hawkes reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
GI tract tumours v1.10 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 BMPR1A Lara Hawkes reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.10 APC Lara Hawkes reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
GI tract tumours v1.9 RNF43 Ivone Leong gene: RNF43 was added
gene: RNF43 was added to Inherited colorectal cancer (with or without polyposis). Sources: NHS GMS
Mode of inheritance for gene: RNF43 was set to
GI tract tumours v1.9 MSH3 Ivone Leong Source NHS GMS was added to MSH3.
GI tract tumours v1.9 GREM1 Ivone Leong Source NHS GMS was added to GREM1.
GI tract tumours v1.9 EPCAM Ivone Leong Source NHS GMS was added to EPCAM.
GI tract tumours v1.9 POLD1 Ivone Leong Source Expert List was added to POLD1.
Source NHS GMS was added to POLD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 NTHL1 Ivone Leong Source Expert List was added to NTHL1.
Source NHS GMS was added to NTHL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 POLE Ivone Leong Source Expert List was added to POLE.
Source NHS GMS was added to POLE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 STK11 Ivone Leong Source Expert List was added to STK11.
Source NHS GMS was added to STK11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 SMAD4 Ivone Leong Source Expert List was added to SMAD4.
Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 PTEN Ivone Leong Source Expert List was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 PMS2 Ivone Leong Source Expert List was added to PMS2.
Source NHS GMS was added to PMS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 MUTYH Ivone Leong Source Expert List was added to MUTYH.
Source NHS GMS was added to MUTYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 MSH6 Ivone Leong Source Expert List was added to MSH6.
Source NHS GMS was added to MSH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 MSH2 Ivone Leong Source Expert List was added to MSH2.
Source NHS GMS was added to MSH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 MLH1 Ivone Leong Source Expert List was added to MLH1.
Source NHS GMS was added to MLH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 BMPR1A Ivone Leong Source Expert List was added to BMPR1A.
Source NHS GMS was added to BMPR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
GI tract tumours v1.9 APC Ivone Leong Source Expert List was added to APC.
Source NHS GMS was added to APC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.7 BRCA2 Ivone Leong Publications for gene: BRCA2 were set to
Inherited ovarian cancer (without breast cancer) v1.6 BRCA1 Ivone Leong Publications for gene: BRCA1 were set to
Inherited ovarian cancer (without breast cancer) v1.5 RAD51D Rachel Robinson reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 RAD51C Rachel Robinson reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MSH6 Rachel Robinson reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MSH2 Rachel Robinson reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 MLH1 Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRIP1 Rachel Robinson reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRCA2 Rachel Robinson reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 BRCA1 Rachel Robinson reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited ovarian cancer (without breast cancer) v1.5 PMS2 Lara Hawkes reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 RAD51D Lara Hawkes reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 RAD51C Lara Hawkes reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MSH6 Lara Hawkes reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MSH2 Lara Hawkes reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 MLH1 Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRIP1 Lara Hawkes reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRCA2 Lara Hawkes reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.5 BRCA1 Lara Hawkes reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited ovarian cancer (without breast cancer) v1.4 PMS2 Ivone Leong Source Expert List was added to PMS2.
Inherited ovarian cancer (without breast cancer) v1.4 RAD51D Ivone Leong Source Expert List was added to RAD51D.
Source NHS GMS was added to RAD51D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 RAD51C Ivone Leong Source Expert List was added to RAD51C.
Source NHS GMS was added to RAD51C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MSH6 Ivone Leong Source Expert List was added to MSH6.
Source NHS GMS was added to MSH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MSH2 Ivone Leong Source Expert List was added to MSH2.
Source NHS GMS was added to MSH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 MLH1 Ivone Leong Source Expert List was added to MLH1.
Source NHS GMS was added to MLH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRIP1 Ivone Leong Source Expert List was added to BRIP1.
Source NHS GMS was added to BRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRCA2 Ivone Leong Source Expert List was added to BRCA2.
Source NHS GMS was added to BRCA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited ovarian cancer (without breast cancer) v1.4 BRCA1 Ivone Leong Source Expert List was added to BRCA1.
Source NHS GMS was added to BRCA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Familial rhabdoid tumours v0.4 SMARCB1 Ivone Leong Classified gene: SMARCB1 as Green List (high evidence)
Familial rhabdoid tumours v0.4 SMARCB1 Ivone Leong Gene: smarcb1 has been classified as Green List (High Evidence).
Familial rhabdoid tumours v0.3 SMARCA4 Ivone Leong Classified gene: SMARCA4 as Green List (high evidence)
Familial rhabdoid tumours v0.3 SMARCA4 Ivone Leong Gene: smarca4 has been classified as Green List (High Evidence).
Familial rhabdoid tumours v0.2 SMARCA4 Rachel Robinson reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial rhabdoid tumours v0.2 SMARCB1 Rachel Robinson reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial rhabdoid tumours v0.2 SMARCA4 Lara Hawkes reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial rhabdoid tumours v0.2 SMARCB1 Lara Hawkes reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial rhabdoid tumours v0.1 SMARCA4 Ivone Leong gene: SMARCA4 was added
gene: SMARCA4 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: SMARCA4 was set to
Familial rhabdoid tumours v0.1 SMARCB1 Ivone Leong gene: SMARCB1 was added
gene: SMARCB1 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: SMARCB1 was set to
Familial rhabdoid tumours v0.0 Ivone Leong Added Panel GMS - Familial rhabdoid tumours
Set panel types to: GMS Rare Disease
Familial rhabdomyosarcoma v1.4 Ivone Leong Panel types changed to Rare Disease 100K
Familial rhabdomyosarcoma v1.3 Ivone Leong Panel name changed from Familial rhabdoid tumours to Familial rhabdomyosarcoma
List of related panels changed from Familial rhabdomyosarcoma; Familial rhabdomyosarcoma or sarcoma to Familial rhabdomyosarcoma or sarcoma; Familial rhabdoid tumours
DDG2P v1.0 Rebecca Foulger promoted panel to version 1.0
Cerebellar hypoplasia v1.25 ATAD3A Julia Baptista gene: ATAD3A was added
gene: ATAD3A was added to Cerebellar hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: Cerebellar hypoplasia reported in 2/7 families (PMID:27640307).
Sources: Expert Review
Undiagnosed metabolic disorders v1.90 ATAD3A Julia Baptista gene: ATAD3A was added
gene: ATAD3A was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: A raised plasma lactate was reported in 4/7 families and methylglutaconic aciduria in 3/7 families (PMID: 27640307). Multiple patients with a diagnosis are described as having "severe metabolic disease".
Sources: Literature
Cholestasis v0.19 FAH Ivone Leong Classified gene: FAH as Green List (high evidence)
Cholestasis v0.19 FAH Ivone Leong Added comment: Comment on list classification: Promoted from red to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. FAH is also a green gene on the Neonatal Cholestasis panel (Version 1.3).
Cholestasis v0.19 FAH Ivone Leong Gene: fah has been classified as Green List (High Evidence).
Cholestasis v0.17 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 26589959; 23311542; 11112833; 28755194; 28493866; 15759101
Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis
Cholestasis v0.16 ALDOB Ivone Leong Classified gene: ALDOB as Green List (high evidence)
Cholestasis v0.16 ALDOB Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. ALDOB is also a green gene on the Neonatal Cholestasis panel (Version 1.3).
Cholestasis v0.16 ALDOB Ivone Leong Gene: aldob has been classified as Green List (High Evidence).
Epidermodysplasia verruciformis v0.4 TMC8 Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.4 TMC6 Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.4 CIB1 Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermodysplasia verruciformis v0.3 TMC8 Rebecca Foulger gene: TMC8 was added
gene: TMC8 was added to Epidermodysplasia verruciformis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231
Epidermodysplasia verruciformis v0.3 TMC6 Rebecca Foulger gene: TMC6 was added
gene: TMC6 was added to Epidermodysplasia verruciformis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400
Epidermodysplasia verruciformis v0.3 CIB1 Rebecca Foulger gene: CIB1 was added
gene: CIB1 was added to Epidermodysplasia verruciformis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267
DDG2P v0.95 BGN Rebecca Foulger commented on gene: BGN: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
DDG2P v0.95 CHRNA2 Rebecca Foulger commented on gene: CHRNA2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
DDG2P v0.95 CACNB4 Rebecca Foulger commented on gene: CACNB4: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for JUVENILE MYOCLONIC EPILEPSY. CACNB4 also rated 'possible' for CACNB4-RELATED EPISODIC ATAXIA TYPE 2;CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY;EPISODIC ATAXIA TYPE 5.
DDG2P v0.95 ANO5 Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v0.95 KCNE1 Rebecca Foulger commented on gene: KCNE1: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
DDG2P v0.95 MYPN Rebecca Foulger commented on gene: MYPN: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Childhood-Onset, Slowly Progressive Nemaline Myopathy.
DDG2P v0.95 PIH1D3 Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
DDG2P v0.95 TERC Rebecca Foulger commented on gene: TERC: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Dyskeratosis congenita, autosomal dominant 1.
DDG2P v0.95 TMEM199 Rebecca Foulger commented on gene: TMEM199: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Disorder of Golgi homeostasis.
DDG2P v0.95 AFG3L2 Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE.
DDG2P v0.95 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v0.95 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v0.95 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
DDG2P v0.95 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION.
DDG2P v0.95 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
DDG2P v0.95 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
DDG2P v0.95 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v0.95 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
DDG2P v0.95 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v0.95 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
DDG2P v0.95 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
DDG2P v0.95 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Mitochondrial depletion syndrome.
DDG2P v0.95 RET Rebecca Foulger commented on gene: RET: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
DDG2P v0.95 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM.
DDG2P v0.95 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1.
DDG2P v0.95 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
DDG2P v0.95 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
DDG2P v0.95 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
DDG2P v0.95 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
DDG2P v0.95 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v0.95 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
DDG2P v0.95 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v0.95 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
DDG2P v0.95 KIT Rebecca Foulger commented on gene: KIT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HUMAN PIEBALDISM.
DDG2P v0.95 KARS Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v0.95 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
DDG2P v0.95 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v0.95 GBA Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
DDG2P v0.95 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v0.95 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v0.95 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 2.
DDG2P v0.95 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 1.
DDG2P v0.95 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
DDG2P v0.95 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for WOLFRAM SYNDROME TYPE 2.
DDG2P v0.95 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v0.95 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
DDG2P v0.95 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY.
DDG2P v0.95 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v0.95 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9.
DDG2P v0.95 AR Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.
DDG2P v0.95 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
DDG2P v0.95 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v0.95 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ACUTE HEPATIC PORPHYRIA.
DDG2P v0.95 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
DDG2P v0.95 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v0.95 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
DDG2P v0.95 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
DDG2P v0.95 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
DDG2P v0.94 FMR1 Rebecca Foulger Source Expert Review Amber was added to FMR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMAD4 Rebecca Foulger Source Expert Review Amber was added to SMAD4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TIMM8A Rebecca Foulger Source Expert Review Amber was added to TIMM8A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 THAP1 Rebecca Foulger Source Expert Review Amber was added to THAP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TGFB2 Rebecca Foulger Source Expert Review Amber was added to TGFB2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SYNE1 Rebecca Foulger Source Expert Review Amber was added to SYNE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SPTLC2 Rebecca Foulger Source Expert Review Amber was added to SPTLC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SNORD118 Rebecca Foulger Source Expert Review Amber was added to SNORD118.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMCHD1 Rebecca Foulger Source Expert Review Amber was added to SMCHD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A11 Rebecca Foulger Source Expert Review Amber was added to SLC4A11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A1 Rebecca Foulger Source Expert Review Amber was added to SLC4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RRM2B Rebecca Foulger Source Expert Review Amber was added to RRM2B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RET Rebecca Foulger Source Expert Review Amber was added to RET.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 POLD1 Rebecca Foulger Source Expert Review Amber was added to POLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PLA2G6 Rebecca Foulger Source Expert Review Amber was added to PLA2G6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PDCD10 Rebecca Foulger Source Expert Review Amber was added to PDCD10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 NR5A1 Rebecca Foulger Source Expert Review Amber was added to NR5A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYO7A Rebecca Foulger Source Expert Review Amber was added to MYO7A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH8 Rebecca Foulger Source Expert Review Amber was added to MYH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH6 Rebecca Foulger Source Expert Review Amber was added to MYH6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LMNA Rebecca Foulger Source Expert Review Amber was added to LMNA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LDB3 Rebecca Foulger Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KRIT1 Rebecca Foulger Source Expert Review Amber was added to KRIT1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KIT Rebecca Foulger Source Expert Review Amber was added to KIT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KARS Rebecca Foulger Source Expert Review Amber was added to KARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 HSPD1 Rebecca Foulger Source Expert Review Amber was added to HSPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GJB3 Rebecca Foulger Source Expert Review Amber was added to GJB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GBA Rebecca Foulger Source Expert Review Amber was added to GBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 FAM161A Rebecca Foulger Source Expert Review Amber was added to FAM161A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 DARS2 Rebecca Foulger Source Expert Review Amber was added to DARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A2 Rebecca Foulger Source Expert Review Amber was added to COL4A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A1 Rebecca Foulger Source Expert Review Amber was added to COL4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CLN6 Rebecca Foulger Source Expert Review Amber was added to CLN6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CISD2 Rebecca Foulger Source Expert Review Amber was added to CISD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CDH1 Rebecca Foulger Source Expert Review Amber was added to CDH1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA2 Rebecca Foulger Source Expert Review Amber was added to BRCA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA1 Rebecca Foulger Source Expert Review Amber was added to BRCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP1A3 Rebecca Foulger Source Expert Review Amber was added to ATP1A3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP13A2 Rebecca Foulger Source Expert Review Amber was added to ATP13A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AR Rebecca Foulger Source Expert Review Amber was added to AR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AMER1 Rebecca Foulger Source Expert Review Amber was added to AMER1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALDOB Rebecca Foulger Source Expert Review Amber was added to ALDOB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALAD Rebecca Foulger Source Expert Review Amber was added to ALAD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AIRE Rebecca Foulger Source Expert Review Amber was added to AIRE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AGXT Rebecca Foulger Source Expert Review Amber was added to AGXT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACTA2 Rebecca Foulger Source Expert Review Amber was added to ACTA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACADS Rebecca Foulger Source Expert Review Amber was added to ACADS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ABCD1 Rebecca Foulger Source Expert Review Amber was added to ABCD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pituitary hormone deficiency v0.71 TBX19 Ivone Leong commented on gene: TBX19: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 SOX3 Ivone Leong commented on gene: SOX3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 SOX2 Ivone Leong commented on gene: SOX2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 PROKR2 Ivone Leong commented on gene: PROKR2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 PNPLA6 Ivone Leong commented on gene: PNPLA6: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 PITX2 Ivone Leong commented on gene: PITX2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 OTX2 Ivone Leong commented on gene: OTX2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 IGSF1 Ivone Leong commented on gene: IGSF1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GNRHR Ivone Leong commented on gene: GNRHR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GLI3 Ivone Leong commented on gene: GLI3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GLI2 Ivone Leong commented on gene: GLI2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GHSR Ivone Leong commented on gene: GHSR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GHRHR Ivone Leong commented on gene: GHRHR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GHR Ivone Leong commented on gene: GHR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GH1 Ivone Leong commented on gene: GH1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 FOXA2 Ivone Leong commented on gene: FOXA2: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 FGFR1 Ivone Leong commented on gene: FGFR1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 FGF8 Ivone Leong commented on gene: FGF8: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 CHD7 Ivone Leong commented on gene: CHD7: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 BTK Ivone Leong commented on gene: BTK: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 PROP1 Ivone Leong commented on gene: PROP1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 POU1F1 Ivone Leong commented on gene: POU1F1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 LHX4 Ivone Leong commented on gene: LHX4: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 LHX3 Ivone Leong commented on gene: LHX3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 HESX1 Ivone Leong commented on gene: HESX1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 LHX4 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 LHX3 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 HESX1 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 LHX4 Ivone Leong commented on gene: LHX4: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 LHX3 Ivone Leong commented on gene: LHX3: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 HESX1 Ivone Leong commented on gene: HESX1: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Added comment: Comment on list classification: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Marked gene: GCM2 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Added comment: Comment when marking as ready: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Deleted their comment
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 RET Ivone Leong commented on gene: RET: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 MEN1 Ivone Leong commented on gene: MEN1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CDKN1B Ivone Leong commented on gene: CDKN1B: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CASR Ivone Leong commented on gene: CASR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 AP2S1 Ivone Leong commented on gene: AP2S1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 CDC73 Ivone Leong commented on gene: CDC73: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Classified gene: GCM2 as Amber List (moderate evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 GCM2 Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.34 VDR Ivone Leong Marked gene: VDR as ready
Hypophosphataemia or rickets v0.34 VDR Ivone Leong Gene: vdr has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong Marked gene: SLC34A1 as ready
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong Gene: slc34a1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong Marked gene: FAM20C as ready
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong Marked gene: CYP2R1 as ready
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong Gene: cyp2r1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong Marked gene: CYP27B1 as ready
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong Gene: cyp27b1 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.34 CYP3A4 Ivone Leong commented on gene: CYP3A4: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Marked gene: CLCN5 as ready
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber.
Hypophosphataemia or rickets v0.34 CLCN5 Ivone Leong Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.34 VDR Ivone Leong commented on gene: VDR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 SLC34A1 Ivone Leong commented on gene: SLC34A1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 FAM20C Ivone Leong commented on gene: FAM20C: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CYP2R1 Ivone Leong commented on gene: CYP2R1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CYP27B1 Ivone Leong commented on gene: CYP27B1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 SLC34A3 Ivone Leong commented on gene: SLC34A3: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 PHEX Ivone Leong commented on gene: PHEX: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 FGF23 Ivone Leong commented on gene: FGF23: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 ENPP1 Ivone Leong commented on gene: ENPP1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 DMP1 Ivone Leong commented on gene: DMP1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Hypophosphataemia or rickets v0.34 CLCN5 Martina Owens reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: 9596078, 9187673; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 CIB1 Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 LEMD3 Rebecca Foulger reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 VDR Rebecca Foulger reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 TMC8 Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 TMC6 Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 SUFU Rebecca Foulger reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 STK11 Rebecca Foulger reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 SASH1 Rebecca Foulger reviewed gene: SASH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 SAMD9 Rebecca Foulger reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PTCH2 Rebecca Foulger reviewed gene: PTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 PDGFRB Rebecca Foulger reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 MC1R Rebecca Foulger reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 LEF1 Rebecca Foulger reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 KRT17 Rebecca Foulger reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 JAK2 Rebecca Foulger reviewed gene: JAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 IRF4 Rebecca Foulger reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 GLA Rebecca Foulger reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 GALNT3 Rebecca Foulger reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 FLCN Rebecca Foulger reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 FGFR2 Rebecca Foulger reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 FGF23 Rebecca Foulger reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 CYLD Rebecca Foulger reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 CTNNB1 Rebecca Foulger reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 CDKN2A Rebecca Foulger reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 CDK4 Rebecca Foulger reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 APC Rebecca Foulger reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.4 ACTRT1 Rebecca Foulger reviewed gene: ACTRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Multiple monogenic benign skin tumours v0.3 TMC8 Rebecca Foulger Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
Multiple monogenic benign skin tumours v0.3 TMC6 Rebecca Foulger Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
Multiple monogenic benign skin tumours v0.3 CIB1 Rebecca Foulger gene: CIB1 was added
gene: CIB1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267
Multiple monogenic benign skin tumours v0.3 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PORCN 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: PORCN were set to Focal dermal hypoplasia,305600
Multiple monogenic benign skin tumours v0.3 LEMD3 Rebecca Foulger gene: LEMD3 was added
gene: LEMD3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEMD3 were set to Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME
Multiple monogenic benign skin tumours v0.3 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: VDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Susceptibility to skin cancer
Multiple monogenic benign skin tumours v0.3 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis
Multiple monogenic benign skin tumours v0.3 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis
Multiple monogenic benign skin tumours v0.3 TMC8 Rebecca Foulger gene: TMC8 was added
gene: TMC8 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis
Multiple monogenic benign skin tumours v0.3 TMC6 Rebecca Foulger gene: TMC6 was added
gene: TMC6 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis
Multiple monogenic benign skin tumours v0.3 SUFU Rebecca Foulger gene: SUFU was added
gene: SUFU was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SUFU were set to Basal cell naevus (Gorlin) syndrome
Multiple monogenic benign skin tumours v0.3 STK11 Rebecca Foulger gene: STK11 was added
gene: STK11 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Multiple monogenic benign skin tumours v0.3 SASH1 Rebecca Foulger gene: SASH1 was added
gene: SASH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Multiple monogenic benign skin tumours v0.3 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis
Multiple monogenic benign skin tumours v0.3 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Epidermal naevi; Melanoma; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome
Multiple monogenic benign skin tumours v0.3 PTCH2 Rebecca Foulger gene: PTCH2 was added
gene: PTCH2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH2 were set to Basal cell naevus (Gorlin) syndrome
Multiple monogenic benign skin tumours v0.3 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Basal cell naevus (Gorlin) syndrome
Multiple monogenic benign skin tumours v0.3 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Multiple monogenic benign skin tumours v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes
Multiple monogenic benign skin tumours v0.3 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to Infantile myofibromatosis
Multiple monogenic benign skin tumours v0.3 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRAS were set to Melanocytic naevi; Noonan syndrome; Congenital melanocytic naevus syndrome
Multiple monogenic benign skin tumours v0.3 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Multiple monogenic benign skin tumours v0.3 MC1R Rebecca Foulger gene: MC1R was added
gene: MC1R was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC1R were set to Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma; Susceptibility to facial pigmented spots
Multiple monogenic benign skin tumours v0.3 LEF1 Rebecca Foulger gene: LEF1 was added
gene: LEF1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LEF1 were set to Sebaceous tumours
Multiple monogenic benign skin tumours v0.3 KRT17 Rebecca Foulger gene: KRT17 was added
gene: KRT17 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT17 were set to Steatocystoma multiplex; Pachyonychia congenita
Multiple monogenic benign skin tumours v0.3 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRAS were set to Epidermal naevi; Schimmelpenning syndrome
Multiple monogenic benign skin tumours v0.3 JAK2 Rebecca Foulger gene: JAK2 was added
gene: JAK2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JAK2 were set to Myelofibrosis
Multiple monogenic benign skin tumours v0.3 IRF4 Rebecca Foulger gene: IRF4 was added
gene: IRF4 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IRF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF4 were set to Pigmentation, susceptibility to facial pigmented spots
Multiple monogenic benign skin tumours v0.3 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Epidermal naevi; Costello syndrome; Woolly hair; Phakomatosis pigmentokeratotica; Schimmelpenning syndrome
Multiple monogenic benign skin tumours v0.3 GLA Rebecca Foulger gene: GLA was added
gene: GLA was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Multiple monogenic benign skin tumours v0.3 GALNT3 Rebecca Foulger gene: GALNT3 was added
gene: GALNT3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis
Multiple monogenic benign skin tumours v0.3 FLCN Rebecca Foulger gene: FLCN was added
gene: FLCN was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dub syndrome
Multiple monogenic benign skin tumours v0.3 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum
Multiple monogenic benign skin tumours v0.3 FGFR2 Rebecca Foulger gene: FGFR2 was added
gene: FGFR2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to Beare-Stevenson cutis gyrata
Multiple monogenic benign skin tumours v0.3 FGF23 Rebecca Foulger gene: FGF23 was added
gene: FGF23 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis
Multiple monogenic benign skin tumours v0.3 CYLD Rebecca Foulger gene: CYLD was added
gene: CYLD was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYLD were set to Familial cylindromatosis, Multiple familial trichoepitheliomas
Multiple monogenic benign skin tumours v0.3 CTNNB1 Rebecca Foulger gene: CTNNB1 was added
gene: CTNNB1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTNNB1 were set to Pilomatrixomas
Multiple monogenic benign skin tumours v0.3 CDKN2A Rebecca Foulger gene: CDKN2A was added
gene: CDKN2A was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma susceptibility
Multiple monogenic benign skin tumours v0.3 CDK4 Rebecca Foulger gene: CDK4 was added
gene: CDK4 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma susceptibility
Multiple monogenic benign skin tumours v0.3 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Melanocytic naevi; Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome
Multiple monogenic benign skin tumours v0.3 APC Rebecca Foulger gene: APC was added
gene: APC was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Desmoid disease
Multiple monogenic benign skin tumours v0.3 ACTRT1 Rebecca Foulger gene: ACTRT1 was added
gene: ACTRT1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACTRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTRT1 were set to 28869610
Phenotypes for gene: ACTRT1 were set to Bazex syndrome
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.27 RET Ivone Leong Mode of inheritance for gene: RET was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.70 RBM28 Ivone Leong Phenotypes for gene: RBM28 were changed from ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079); ANE syndrome
Pituitary hormone deficiency v0.69 RBM28 Ivone Leong Publications for gene: RBM28 were set to
Intellectual disability v2.615 ISCA-37494-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37494-Gain was changed from 3 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.614 INTS1 Konstantinos Varvagiannis reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 17544522; Phenotypes: Hypotonia, Global developmental delay, Cataract, Abnormality of the skeletal system; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v0.93 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
DDG2P v0.93 UFC1 Rebecca Foulger Mode of inheritance for gene: UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.92 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053).
DDG2P v0.92 SAMD9 Rebecca Foulger Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.91 RPL11 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels.
DDG2P v0.91 RPL11 Rebecca Foulger Mode of inheritance for gene: RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.26 RET Treena Cranston commented on gene: RET: Specific activating mutations - targeted analysis most appropriate
Cerebellar hypoplasia v1.25 ISPD Louise Daugherty commented on gene: ISPD
Cerebellar hypoplasia v1.25 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty commented on gene: ISPD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Congenital muscular dystrophy v1.21 ISPD Louise Daugherty commented on gene: ISPD
Congenital muscular dystrophy v1.21 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Malformations of cortical development v1.164 ISPD Louise Daugherty commented on gene: ISPD
Malformations of cortical development v1.164 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Hydrocephalus v1.28 ISPD Louise Daugherty commented on gene: ISPD
Hydrocephalus v1.28 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Arthrogryposis v2.37 ISPD Louise Daugherty commented on gene: ISPD
Arthrogryposis v2.37 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Other rare neuromuscular disorders v1.1 ISPD Louise Daugherty commented on gene: ISPD
Other rare neuromuscular disorders v1.1 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Bilateral congenital or childhood onset cataracts v1.24 ISPD Louise Daugherty commented on gene: ISPD
Bilateral congenital or childhood onset cataracts v1.24 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Early onset or syndromic epilepsy v1.13 ISPD Louise Daugherty commented on gene: ISPD
Early onset or syndromic epilepsy v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Ataxia and cerebellar anomalies - narrow panel v1.0 ISPD Louise Daugherty commented on gene: ISPD
Ataxia and cerebellar anomalies - narrow panel v1.0 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Fetal anomalies v0.64 ISPD Louise Daugherty commented on gene: ISPD
Fetal anomalies v0.64 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Congenital disorders of glycosylation v1.21 ISPD Louise Daugherty commented on gene: ISPD
Congenital disorders of glycosylation v1.21 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Likely inborn error of metabolism v1.46 ISPD Louise Daugherty commented on gene: ISPD
Likely inborn error of metabolism v1.46 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Undiagnosed metabolic disorders v1.90 ISPD Louise Daugherty commented on gene: ISPD
Undiagnosed metabolic disorders v1.90 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Intellectual disability v2.614 ISPD Louise Daugherty commented on gene: ISPD
Intellectual disability v2.614 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
DDG2P v0.90 ISPD Louise Daugherty commented on gene: ISPD
DDG2P v0.90 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
DDG2P v0.90 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive).
DDG2P v0.90 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.89 TWIST2 Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.88 TWIST2 Rebecca Foulger Classified gene: TWIST2 as Green List (high evidence)
DDG2P v0.88 TWIST2 Rebecca Foulger Gene: twist2 has been classified as Green List (High Evidence).
DDG2P v0.87 TRAF7 Rebecca Foulger Classified gene: TRAF7 as Green List (high evidence)
DDG2P v0.87 TRAF7 Rebecca Foulger Gene: traf7 has been classified as Green List (High Evidence).
DDG2P v0.86 TBCE Rebecca Foulger Classified gene: TBCE as Green List (high evidence)
DDG2P v0.86 TBCE Rebecca Foulger Gene: tbce has been classified as Green List (High Evidence).
DDG2P v0.85 SIX1 Rebecca Foulger Classified gene: SIX1 as Green List (high evidence)
DDG2P v0.85 SIX1 Rebecca Foulger Gene: six1 has been classified as Green List (High Evidence).
DDG2P v0.84 PUF60 Rebecca Foulger Classified gene: PUF60 as Green List (high evidence)
DDG2P v0.84 PUF60 Rebecca Foulger Gene: puf60 has been classified as Green List (High Evidence).
DDG2P v0.83 MYT1L Rebecca Foulger Classified gene: MYT1L as Green List (high evidence)
DDG2P v0.83 MYT1L Rebecca Foulger Gene: myt1l has been classified as Green List (High Evidence).
DDG2P v0.82 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
DDG2P v0.82 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
DDG2P v0.81 MITF Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.80 MITF Rebecca Foulger Classified gene: MITF as Green List (high evidence)
DDG2P v0.80 MITF Rebecca Foulger Gene: mitf has been classified as Green List (High Evidence).
DDG2P v0.79 MAGEL2 Rebecca Foulger Classified gene: MAGEL2 as Green List (high evidence)
DDG2P v0.79 MAGEL2 Rebecca Foulger Gene: magel2 has been classified as Green List (High Evidence).
DDG2P v0.78 MAFB Rebecca Foulger Classified gene: MAFB as Green List (high evidence)
DDG2P v0.78 MAFB Rebecca Foulger Gene: mafb has been classified as Green List (High Evidence).
DDG2P v0.77 LRP2 Rebecca Foulger Mode of inheritance for gene: LRP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.76 LRP2 Rebecca Foulger Classified gene: LRP2 as Green List (high evidence)
DDG2P v0.76 LRP2 Rebecca Foulger Gene: lrp2 has been classified as Green List (High Evidence).
DDG2P v0.75 ITPR1 Rebecca Foulger Classified gene: ITPR1 as Green List (high evidence)
DDG2P v0.75 ITPR1 Rebecca Foulger Gene: itpr1 has been classified as Green List (High Evidence).
DDG2P v0.74 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
DDG2P v0.74 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
DDG2P v0.73 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
DDG2P v0.73 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
DDG2P v0.72 GJA1 Rebecca Foulger Classified gene: GJA1 as Green List (high evidence)
DDG2P v0.72 GJA1 Rebecca Foulger Gene: gja1 has been classified as Green List (High Evidence).
DDG2P v0.71 FBN1 Rebecca Foulger Classified gene: FBN1 as Green List (high evidence)
DDG2P v0.71 FBN1 Rebecca Foulger Gene: fbn1 has been classified as Green List (High Evidence).
DDG2P v0.70 EYA1 Rebecca Foulger Classified gene: EYA1 as Green List (high evidence)
DDG2P v0.70 EYA1 Rebecca Foulger Gene: eya1 has been classified as Green List (High Evidence).
DDG2P v0.69 ERCC4 Rebecca Foulger Classified gene: ERCC4 as Green List (high evidence)
DDG2P v0.69 ERCC4 Rebecca Foulger Gene: ercc4 has been classified as Green List (High Evidence).
DDG2P v0.68 DNMT3A Rebecca Foulger Classified gene: DNMT3A as Green List (high evidence)
DDG2P v0.68 DNMT3A Rebecca Foulger Gene: dnmt3a has been classified as Green List (High Evidence).
DDG2P v0.67 DEAF1 Rebecca Foulger Classified gene: DEAF1 as Green List (high evidence)
DDG2P v0.67 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence).
DDG2P v0.66 CRYGD Rebecca Foulger Classified gene: CRYGD as Green List (high evidence)
DDG2P v0.66 CRYGD Rebecca Foulger Gene: crygd has been classified as Green List (High Evidence).
DDG2P v0.65 CRYGC Rebecca Foulger Classified gene: CRYGC as Green List (high evidence)
DDG2P v0.65 CRYGC Rebecca Foulger Gene: crygc has been classified as Green List (High Evidence).
DDG2P v0.64 CRYBA4 Rebecca Foulger Classified gene: CRYBA4 as Green List (high evidence)
DDG2P v0.64 CRYBA4 Rebecca Foulger Gene: cryba4 has been classified as Green List (High Evidence).
DDG2P v0.63 COL9A3 Rebecca Foulger Classified gene: COL9A3 as Green List (high evidence)
DDG2P v0.63 COL9A3 Rebecca Foulger Gene: col9a3 has been classified as Green List (High Evidence).
DDG2P v0.62 COL2A1 Rebecca Foulger Classified gene: COL2A1 as Green List (high evidence)
DDG2P v0.62 COL2A1 Rebecca Foulger Gene: col2a1 has been classified as Green List (High Evidence).
DDG2P v0.61 COG4 Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.60 COG4 Rebecca Foulger Classified gene: COG4 as Green List (high evidence)
DDG2P v0.60 COG4 Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence).
DDG2P v0.59 ATAD3A Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.58 ATAD3A Rebecca Foulger Classified gene: ATAD3A as Green List (high evidence)
DDG2P v0.58 ATAD3A Rebecca Foulger Gene: atad3a has been classified as Green List (High Evidence).
DDG2P v0.57 ACTB Rebecca Foulger Classified gene: ACTB as Green List (high evidence)
DDG2P v0.57 ACTB Rebecca Foulger Gene: actb has been classified as Green List (High Evidence).
DDG2P v0.55 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.; Changed rating: GREEN
DDG2P v0.55 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 SIX1 Rebecca Foulger edited their review of gene: SIX1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23.; Changed rating: GREEN
DDG2P v0.55 PUF60 Rebecca Foulger edited their review of gene: PUF60: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for PUF60 syndrome.; Changed rating: GREEN
DDG2P v0.55 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MYT1L syndrome.; Changed rating: GREEN
DDG2P v0.55 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.; Changed rating: GREEN
DDG2P v0.55 MITF Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 MAGEL2 Rebecca Foulger edited their review of gene: MAGEL2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Schaaf-Yang syndrome.; Changed rating: GREEN
DDG2P v0.55 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN
DDG2P v0.55 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 ITPR1 Rebecca Foulger edited their review of gene: ITPR1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for biallelic and monoallelic Gillespie Syndrome. MOI kept as 'both monoallelic and biallelic' .; Changed rating: GREEN
DDG2P v0.55 IL11RA Rebecca Foulger edited their review of gene: IL11RA: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Autosomal Recessive Craniosynostosis.; Changed rating: GREEN
DDG2P v0.55 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN
DDG2P v0.55 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 EYA1 Rebecca Foulger edited their review of gene: EYA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTORENAL SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.; Changed rating: GREEN
DDG2P v0.55 ERBB3 Rebecca Foulger commented on gene: ERBB3: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction.
DDG2P v0.55 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY).; Changed rating: GREEN
DDG2P v0.55 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN
DDG2P v0.55 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN
DDG2P v0.55 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN
DDG2P v0.55 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN
DDG2P v0.55 CRADD Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly.
DDG2P v0.55 COL9A3 Rebecca Foulger edited their review of gene: COL9A3: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3.; Changed rating: GREEN
DDG2P v0.55 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.; Changed rating: GREEN
DDG2P v0.55 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 CLTC Rebecca Foulger commented on gene: CLTC: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Epilepsy and intellectual disability.
DDG2P v0.55 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN
Childhood onset hereditary spastic paraplegia v1.0 Louise Daugherty promoted panel to version 1.0
Cholestasis v0.15 PEX6 Ivone Leong Marked gene: PEX6 as ready
Cholestasis v0.15 PEX6 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX6 Ivone Leong Gene: pex6 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX26 Ivone Leong Marked gene: PEX26 as ready
Cholestasis v0.15 PEX26 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX26 Ivone Leong Gene: pex26 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX12 Ivone Leong Marked gene: PEX12 as ready
Cholestasis v0.15 PEX12 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX12 Ivone Leong Gene: pex12 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX1 Ivone Leong Marked gene: PEX1 as ready
Cholestasis v0.15 PEX1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX1 Ivone Leong Gene: pex1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.145 SLC2A1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes from OMIM (with HSP)
Childhood onset hereditary spastic paraplegia v0.145 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay to Dystonia 9, 601042; paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay
Childhood onset hereditary spastic paraplegia v0.144 SLC2A1 Louise Daugherty Added comment: Comment on publications: added publication suggested by internal clinical review
Childhood onset hereditary spastic paraplegia v0.144 SLC2A1 Louise Daugherty Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715
Cholestasis v0.15 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Cholestasis v0.15 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.143 HACE1 Louise Daugherty Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure
Cholestasis v0.15 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Cholestasis v0.15 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Cholestasis v0.15 TMEM67 Ivone Leong Classified gene: TMEM67 as Green List (high evidence)
Cholestasis v0.15 TMEM67 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.15 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Cholestasis v0.14 RPGRIP1L Ivone Leong Marked gene: RPGRIP1L as ready
Cholestasis v0.14 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Cholestasis v0.14 RPGRIP1L Ivone Leong Classified gene: RPGRIP1L as Green List (high evidence)
Cholestasis v0.14 RPGRIP1L Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.14 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.142 ZFYVE26 Louise Daugherty Publications for gene: ZFYVE26 were set to Hanein et al. (2008)
Childhood onset hereditary spastic paraplegia v0.141 ZFYVE26 Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, 270700
Childhood onset hereditary spastic paraplegia v0.140 WDR45B Louise Daugherty Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Childhood onset hereditary spastic paraplegia v0.139 WASHC5 Louise Daugherty Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Childhood onset hereditary spastic paraplegia v0.138 WASHC5 Louise Daugherty Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563
Childhood onset hereditary spastic paraplegia v0.137 SPG7 Louise Daugherty Publications for gene: SPG7 were set to Casari et al (1998)
Childhood onset hereditary spastic paraplegia v0.136 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259
Childhood onset hereditary spastic paraplegia v0.135 SPG21 Louise Daugherty Publications for gene: SPG21 were set to Simpson et al. (2003)
Childhood onset hereditary spastic paraplegia v0.134 SPG21 Louise Daugherty Phenotypes for gene: SPG21 were changed from Spastic Paraplegia, Recessive to Spastic Paraplegia, Recessive; Mast syndrome, 248900
Cholestasis v0.13 CC2D2A Ivone Leong Classified gene: CC2D2A as Green List (high evidence)
Cholestasis v0.13 CC2D2A Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.13 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.133 SPG11 Louise Daugherty Publications for gene: SPG11 were set to Stevanin et al. (2007)
Childhood onset hereditary spastic paraplegia v0.132 SPG11 Louise Daugherty Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360
Childhood onset hereditary spastic paraplegia v0.131 SPART Louise Daugherty Publications for gene: SPART were set to Patel et al. (2002
Childhood onset hereditary spastic paraplegia v0.130 SPART Louise Daugherty Phenotypes for gene: SPART were changed from to Troyer syndrome, 275900
Hypophosphataemia or rickets v0.33 CYP3A4 Martina Owens reviewed gene: CYP3A4: Rating: RED; 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: 29461981; Phenotypes: Vitamin D-Dependent Rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v0.129 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Childhood onset hereditary spastic paraplegia v0.128 SLC16A2 Louise Daugherty Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
Childhood onset hereditary spastic paraplegia v0.127 SERAC1 Louise Daugherty Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
Childhood onset hereditary spastic paraplegia v0.126 SACS Louise Daugherty Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type, 270550
Hypophosphataemia or rickets v0.33 CYP3A4 Martina Owens Deleted their review
Childhood onset hereditary spastic paraplegia v0.125 RTN2 Louise Daugherty Publications for gene: RTN2 were set to Montenegro et al. (2012)
Childhood onset hereditary spastic paraplegia v0.124 RTN2 Louise Daugherty Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805
Childhood onset hereditary spastic paraplegia v0.123 REEP1 Louise Daugherty Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250
Childhood onset hereditary spastic paraplegia v0.122 REEP1 Louise Daugherty Publications for gene: REEP1 were set to Zuchner et al. (2006)
Childhood onset hereditary spastic paraplegia v0.121 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia
Childhood onset hereditary spastic paraplegia v0.120 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Childhood onset hereditary spastic paraplegia v0.119 PNPLA6 Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020
Childhood onset hereditary spastic paraplegia v0.118 PLP1 Louise Daugherty Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Childhood onset hereditary spastic paraplegia v0.117 PLP1 Louise Daugherty Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920
Childhood onset hereditary spastic paraplegia v0.116 NIPA1 Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363
Childhood onset hereditary spastic paraplegia v0.115 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to Rainier et al. (2003)
Childhood onset hereditary spastic paraplegia v0.114 L1CAM Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome, 303350; Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.113 L1CAM Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.112 L1CAM Louise Daugherty Publications for gene: L1CAM were set to 7920659
Childhood onset hereditary spastic paraplegia v0.111 L1CAM Louise Daugherty Publications for gene: L1CAM were set to PMID: 7920659
Childhood onset hereditary spastic paraplegia v0.110 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, 604187
Childhood onset hereditary spastic paraplegia v0.109 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to 14981520
Childhood onset hereditary spastic paraplegia v0.108 KIF5A Louise Daugherty Publications for gene: KIF5A were set to Reid et al. (2002)
Childhood onset hereditary spastic paraplegia v0.107 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357
Childhood onset hereditary spastic paraplegia v0.106 KIF1A Louise Daugherty Publications for gene: KIF1A were set to Erlich et al. (2011)
Childhood onset hereditary spastic paraplegia v0.105 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; 605280 to Spastic paraplegia 13, autosomal dominant, 605280
Childhood onset hereditary spastic paraplegia v0.104 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant; 605280
Childhood onset hereditary spastic paraplegia v0.103 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to Hansen et al. (2002)
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Classified gene: HSPD1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Added comment: Comment on list classification: demoted from Green to Amber after internal clinical review
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.101 FA2H Louise Daugherty Publications for gene: FA2H were set to Edvardson et al. (2008)
Childhood onset hereditary spastic paraplegia v0.100 FA2H Louise Daugherty Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319
Childhood onset hereditary spastic paraplegia v0.99 DDHD2 Louise Daugherty Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033
Childhood onset hereditary spastic paraplegia v0.98 DDHD2 Louise Daugherty Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Childhood onset hereditary spastic paraplegia v0.97 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.96 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340
Childhood onset hereditary spastic paraplegia v0.95 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821
Childhood onset hereditary spastic paraplegia v0.94 CYP7B1 Louise Daugherty Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800
Childhood onset hereditary spastic paraplegia v0.93 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Childhood onset hereditary spastic paraplegia v0.92 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.91 CYP2U1 Louise Daugherty Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030
Hereditary spastic paraplegia v1.190 GCH1 Rebecca Foulger Added comment: Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).
Hereditary spastic paraplegia v1.190 GCH1 Rebecca Foulger Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v0.90 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Classified gene: CAPN1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Added comment: Comment on list classification: changed to Amber after internal clinical review
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Gene: capn1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.88 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043
Childhood onset hereditary spastic paraplegia v0.87 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to Landoure (2013)
Childhood onset hereditary spastic paraplegia v0.86 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, 614298
Childhood onset hereditary spastic paraplegia v0.85 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Childhood onset hereditary spastic paraplegia v0.85 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v0.84 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Childhood onset hereditary spastic paraplegia v0.83 C12orf65 Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035
Adult onset neurodegenerative disorder v1.1 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Adult onset neurodegenerative disorder v1.1 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.189 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Hereditary spastic paraplegia v1.189 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v0.82 SLC2A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as agreed with Arianna. Although Biallelic MOI is suggested by the Reviewer Chris Buxton on the Hereditary spastic paraplegia panel, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype).
Childhood onset hereditary spastic paraplegia v0.82 SLC2A1 Rebecca Foulger Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v0.81 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Childhood onset hereditary spastic paraplegia v0.80 BSCL2 Louise Daugherty Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, 270685
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Classified gene: SLC2A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the 'Hereditary spastic paraplegia' panel. Age of onset of Spastic paraplegia in patients from PMID:27725288 includes 'Infancy, 3 yr, 4 yr, 10 yr, not examined).
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Gene: slc2a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.78 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Hereditary spastic paraplegia v1.188 SLC2A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although Biallelic MOI is suggested by the Reviewer Chris Buxton, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype). Therefore changed MOI to 'Monoallelic' as agreed with Arianna.
Hereditary spastic paraplegia v1.188 SLC2A1 Rebecca Foulger Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v0.76 ATL1 Louise Daugherty Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Classified gene: SLC2A1 as Green List (high evidence)
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green after review and advice from Arianna Tucci. Gene added to panel and rated Red by Chris Buxton, but sufficient cases of SLC2A1 variants and HSP phenotype from the literature to support causation.
Hereditary spastic paraplegia v1.187 SLC2A1 Rebecca Foulger Gene: slc2a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.75 ATL1 Louise Daugherty Publications for gene: ATL1 were set to PMID: 11685207
Childhood onset hereditary spastic paraplegia v0.74 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Childhood onset hereditary spastic paraplegia v0.73 AP4S1 Louise Daugherty Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067
Childhood onset hereditary spastic paraplegia v0.72 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Childhood onset hereditary spastic paraplegia v0.71 AP4M1 Louise Daugherty Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936
Childhood onset hereditary spastic paraplegia v0.70 AP4E1 Louise Daugherty Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744
Childhood onset hereditary spastic paraplegia v0.69 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Childhood onset hereditary spastic paraplegia v0.68 AP4B1 Louise Daugherty Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Childhood onset hereditary spastic paraplegia v0.67 AP4B1 Louise Daugherty Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, 614066
Childhood onset hereditary spastic paraplegia v0.66 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225 to Spastic paralysis, infantile onset ascending, 607225
Childhood onset hereditary spastic paraplegia v0.65 ALDH18A1 Louise Daugherty Phenotypes for gene: ALDH18A1 were changed from ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant, 601162; Spastic paraplegia 9B, autosomal recessive, 616586
Childhood onset hereditary spastic paraplegia v0.64 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Childhood onset hereditary spastic paraplegia v0.63 AFG3L2 Louise Daugherty Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive
Hereditary spastic paraplegia v1.186 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from Developmental delay; seizure; paroxysmal choreoathetosis; spastic paraplegia to Developmental delay; seizure; paroxysmal choreoathetosis; spastic paraplegia; autosomal dominant, complicated hereditary spastic paraplegia (HSP)
Hypophosphataemia or rickets v0.33 CYP27B1 Ivone Leong Publications for gene: CYP27B1 were set to 9486994; 9415400
Hypophosphataemia or rickets v0.32 DMP1 Ivone Leong Publications for gene: DMP1 were set to 17033625; 15590631; 22695891; 20213538
Hypophosphataemia or rickets v0.31 CYP27B1 Martina Owens reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30282619; Phenotypes: Vitamin D-Dependent Rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hyperinsulinism v1.36 GPC3 Ivone Leong Classified gene: GPC3 as Green List (high evidence)
Congenital hyperinsulinism v1.36 GPC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.36 GPC3 Ivone Leong Gene: gpc3 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.35 GPC3 Ivone Leong Publications for gene: GPC3 were set to
Congenital hyperinsulinism v1.34 GPC3 Ivone Leong Phenotypes for gene: GPC3 were changed from to neonatal hypoglycaemia; distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies; supernumerary nipples
Congenital hyperinsulinism v1.33 GPC3 Ivone Leong Mode of inheritance for gene: GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Classified gene: AKT2 as Green List (high evidence)
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.32 AKT2 Ivone Leong Gene: akt2 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.31 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Congenital hyperinsulinism v1.30 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from to hypoinsulinemic hypoketotic hypoglycemia
Congenital hyperinsulinism v1.29 AKT2 Ivone Leong Mode of inheritance for gene: AKT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.28 FOXA2 Ivone Leong Classified gene: FOXA2 as Green List (high evidence)
Congenital hyperinsulinism v1.28 FOXA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Congenital hyperinsulinism v1.28 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.31 SLC34A3 Martina Owens reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16358214, 16358215; Phenotypes: Hypophosphatemic rickets with hypercalciuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital hyperinsulinism v1.27 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from to Hyperinsulinism; hypopituitarism
Congenital hyperinsulinism v1.26 FOXA2 Ivone Leong Publications for gene: FOXA2 were set to
Congenital hyperinsulinism v1.25 FOXA2 Ivone Leong Mode of inheritance for gene: FOXA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autosomal recessive primary hypertrophic osteoarthropathy v0.6 SLCO2A1 Rebecca Foulger Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441
Autosomal recessive primary hypertrophic osteoarthropathy v0.5 HPGD Rebecca Foulger Phenotypes for gene: HPGD were changed from 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
Autosomal recessive primary hypertrophic osteoarthropathy v0.4 HPGD Rebecca Foulger reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive primary hypertrophic osteoarthropathy v0.4 SLCO2A1 Rebecca Foulger reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive primary hypertrophic osteoarthropathy v0.3 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Autosomal recessive primary hypertrophic osteoarthropathy v0.3 SLCO2A1 Rebecca Foulger gene: SLCO2A1 was added
gene: SLCO2A1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441
Congenital hyperinsulinism v1.24 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia
Congenital hyperinsulinism v1.23 INSR Ivone Leong Publications for gene: INSR were set to
Congenital hyperinsulinism v1.22 INSR Ivone Leong Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.21 CACNA1D Ivone Leong Phenotypes for gene: CACNA1D were changed from to hyperinsulinaemic hypoglycaemia, heart defects; severe hypotonia
Congenital hyperinsulinism v1.20 CACNA1D Ivone Leong Publications for gene: CACNA1D were set to
Congenital hyperinsulinism v1.19 CACNA1D Ivone Leong Mode of inheritance for gene: CACNA1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Classified gene: PMM2 as Green List (high evidence)
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMM2 is a green gene on Congenital disorders of glycosylation (Version 1.21), Inborn errors of metabolism (Version 1.46) and Undiagnosed metabolic disorders (Version 1.90) panels.
Congenital hyperinsulinism v1.18 PMM2 Ivone Leong Gene: pmm2 has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.17 PMM2 Ivone Leong Phenotypes for gene: PMM2 were changed from to Hyperinsulinemic Hypoglycaemia; polycystic kidney disease
Congenital hyperinsulinism v1.16 PMM2 Ivone Leong Publications for gene: PMM2 were set to
Congenital hyperinsulinism v1.15 PMM2 Ivone Leong Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.4 VPS33B Rebecca Foulger reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 TRPV3 Rebecca Foulger reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 TGM1 Rebecca Foulger reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SULT2B1 Rebecca Foulger reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 STS Rebecca Foulger reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ST14 Rebecca Foulger reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SPINK5 Rebecca Foulger reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SNAP29 Rebecca Foulger reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SLURP1 Rebecca Foulger reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SLC27A4 Rebecca Foulger reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 SERPINB7 Rebecca Foulger reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 SDR9C7 Rebecca Foulger reviewed gene: SDR9C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 SASH1 Rebecca Foulger reviewed gene: SASH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 RSPO1 Rebecca Foulger reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 RHBDF2 Rebecca Foulger reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 POMP Rebecca Foulger reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PKP2 Rebecca Foulger reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PKP1 Rebecca Foulger reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PHYH Rebecca Foulger reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 PERP Rebecca Foulger reviewed gene: PERP: Rating: RED; Mode of pathogenicity: ; Publications: 30321533; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 NIPAL4 Rebecca Foulger reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 MVK Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 MBTPS2 Rebecca Foulger reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 LOR Rebecca Foulger reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 LIPN Rebecca Foulger reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT9 Rebecca Foulger reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT6C Rebecca Foulger reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT2 Rebecca Foulger reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 KDSR Rebecca Foulger reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 KANK2 Rebecca Foulger reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 JUP Rebecca Foulger reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 FLG Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 FAM83G Rebecca Foulger reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: ; Publications: 29138053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ELOVL4 Rebecca Foulger reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 EBP Rebecca Foulger reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSP Rebecca Foulger reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSG4 Rebecca Foulger reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSG2 Rebecca Foulger reviewed gene: DSG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 DSG1 Rebecca Foulger reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC3 Rebecca Foulger reviewed gene: DSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC2 Rebecca Foulger reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 DSC1 Rebecca Foulger reviewed gene: DSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 CYP4F22 Rebecca Foulger reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CTSC Rebecca Foulger reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CLDN1 Rebecca Foulger reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CERS3 Rebecca Foulger reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CDSN Rebecca Foulger reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 CAST Rebecca Foulger reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 CASP14 Rebecca Foulger reviewed gene: CASP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.4 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AQP5 Rebecca Foulger reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AP1S1 Rebecca Foulger reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALOXE3 Rebecca Foulger reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALOX12B Rebecca Foulger reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ALDH3A2 Rebecca Foulger reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ADAM17 Rebecca Foulger reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ABHD5 Rebecca Foulger reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 ABCA12 Rebecca Foulger reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Palmoplantar keratodermas v0.4 AAGAB Rebecca Foulger reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Congenital hyperinsulinism v1.14 KMT2D Ivone Leong Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1
Congenital hyperinsulinism v1.13 KMT2D Ivone Leong Publications for gene: KMT2D were set to
Congenital hyperinsulinism v1.12 KMT2D Ivone Leong Mode of inheritance for gene: KMT2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas v0.3 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis syndrome
Palmoplantar keratodermas v0.3 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV3 were set to Olmstedt syndrome
Palmoplantar keratodermas v0.3 TGM1 Rebecca Foulger gene: TGM1 was added
gene: TGM1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 SULT2B1 Rebecca Foulger gene: SULT2B1 was added
gene: SULT2B1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14; 617571
Palmoplantar keratodermas v0.3 STS Rebecca Foulger gene: STS was added
gene: STS was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
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 X linked ichthyosis
Palmoplantar keratodermas v0.3 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 SPINK5 Rebecca Foulger gene: SPINK5 was added
gene: SPINK5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPINK5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton Syndrome
Palmoplantar keratodermas v0.3 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Palmoplantar keratodermas v0.3 SLURP1 Rebecca Foulger gene: SLURP1 was added
gene: SLURP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLURP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLURP1 were set to Mal de Meleda
Palmoplantar keratodermas v0.3 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome
Palmoplantar keratodermas v0.3 SERPINB7 Rebecca Foulger gene: SERPINB7 was added
gene: SERPINB7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINB7 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 SDR9C7 Rebecca Foulger gene: SDR9C7 was added
gene: SDR9C7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to 617574; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
Palmoplantar keratodermas v0.3 SASH1 Rebecca Foulger gene: SASH1 was added
gene: SASH1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SASH1 were set to Dyschromatosis (het); Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Palmoplantar keratodermas v0.3 RSPO1 Rebecca Foulger gene: RSPO1 was added
gene: RSPO1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO1 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 RHBDF2 Rebecca Foulger gene: RHBDF2 was added
gene: RHBDF2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHBDF2 were set to Tylosis with esophageal cancer
Palmoplantar keratodermas v0.3 POMP Rebecca Foulger gene: POMP was added
gene: POMP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Palmoplantar keratodermas v0.3 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 PKP2 Rebecca Foulger gene: PKP2 was added
gene: PKP2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PKP2 was set to
Phenotypes for gene: PKP2 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 PKP1 Rebecca Foulger gene: PKP1 was added
gene: PKP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKP1 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 PHYH Rebecca Foulger gene: PHYH was added
gene: PHYH was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Palmoplantar keratodermas v0.3 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Palmoplantar keratodermas v0.3 PERP Rebecca Foulger gene: PERP was added
gene: PERP was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PERP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PERP were set to 30321533
Phenotypes for gene: PERP were set to Dominant and Recessive Keratoderma
Palmoplantar keratodermas v0.3 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Palmoplantar keratodermas. Sources: Expert Review Green,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)
Phenotypes for gene: NSDHL were set to CHILD syndrome
Palmoplantar keratodermas v0.3 NIPAL4 Rebecca Foulger gene: NIPAL4 was added
gene: NIPAL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MVK were set to porokeratosis of Mibelli; Actinic porokeratosis
Palmoplantar keratodermas v0.3 MBTPS2 Rebecca Foulger gene: MBTPS2 was added
gene: MBTPS2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Olmstedt syndrome; IFAP syndrome; Keratosis follicularis spinulosa decalvans
Palmoplantar keratodermas v0.3 LOR Rebecca Foulger gene: LOR was added
gene: LOR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOR were set to Loricrin keratoderma
Palmoplantar keratodermas v0.3 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 KRT9 Rebecca Foulger gene: KRT9 was added
gene: KRT9 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT9 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 KRT6C Rebecca Foulger gene: KRT6C was added
gene: KRT6C was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 KRT2 Rebecca Foulger gene: KRT2 was added
gene: KRT2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT2 were set to Autosomal dominant ichthyosis
Palmoplantar keratodermas v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Pachyonychia congenita; Palmoplantar keratoderma; Ichythosis with confetti; Epidermolytic hyperkeratosis
Palmoplantar keratodermas v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis
Palmoplantar keratodermas v0.3 KDSR Rebecca Foulger gene: KDSR was added
gene: KDSR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4
Palmoplantar keratodermas v0.3 KANK2 Rebecca Foulger gene: KANK2 was added
gene: KANK2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 JUP Rebecca Foulger gene: JUP was added
gene: JUP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease; Desmosomal disorders
Palmoplantar keratodermas v0.3 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
Palmoplantar keratodermas v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 25398053
Phenotypes for gene: GJA1 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS
Palmoplantar keratodermas v0.3 FAM83G Rebecca Foulger gene: FAM83G was added
gene: FAM83G was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENPP1 were set to Cole disease
Palmoplantar keratodermas v0.3 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ELOVL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, mental retardation
Palmoplantar keratodermas v0.3 EBP Rebecca Foulger gene: EBP was added
gene: EBP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to Conradi-Hunnermann-Happle syndrome
Palmoplantar keratodermas v0.3 DSP Rebecca Foulger gene: DSP was added
gene: DSP was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG4 Rebecca Foulger gene: DSG4 was added
gene: DSG4 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG4 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG2 Rebecca Foulger gene: DSG2 was added
gene: DSG2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DSG2 was set to
Phenotypes for gene: DSG2 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 DSG1 Rebecca Foulger gene: DSG1 was added
gene: DSG1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSG1 were set to Palmoplantar keratoderma; Congenital erythroderma with palmoplantar keratoderma; Desmosomal disorders
Palmoplantar keratodermas v0.3 DSC3 Rebecca Foulger gene: DSC3 was added
gene: DSC3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC3 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 DSC2 Rebecca Foulger gene: DSC2 was added
gene: DSC2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair
Palmoplantar keratodermas v0.3 DSC1 Rebecca Foulger gene: DSC1 was added
gene: DSC1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DSC1 was set to
Phenotypes for gene: DSC1 were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 CYP4F22 Rebecca Foulger gene: CYP4F22 was added
gene: CYP4F22 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 CTSC Rebecca Foulger gene: CTSC was added
gene: CTSC was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefvre syndrome
Palmoplantar keratodermas v0.3 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to susceptibility to psoriasis; susceptility to atopic dermatitis; Exfoliative ichthyosis/acral peeling skin syndrome
Palmoplantar keratodermas v0.3 CLDN1 Rebecca Foulger gene: CLDN1 was added
gene: CLDN1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Neonatal ichthyosis-sclerosing cholangitis syndrome
Palmoplantar keratodermas v0.3 CERS3 Rebecca Foulger gene: CERS3 was added
gene: CERS3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 CDSN Rebecca Foulger gene: CDSN was added
gene: CDSN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CDSN were set to Desmosomal disorders
Palmoplantar keratodermas v0.3 CAST Rebecca Foulger gene: CAST was added
gene: CAST was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Palmoplantar keratodermas v0.3 CASP14 Rebecca Foulger gene: CASP14 was added
gene: CASP14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12; 617320
Palmoplantar keratodermas v0.3 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata
Palmoplantar keratodermas v0.3 AQP5 Rebecca Foulger gene: AQP5 was added
gene: AQP5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma
Palmoplantar keratodermas v0.3 AP1S1 Rebecca Foulger gene: AP1S1 was added
gene: AP1S1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome
Palmoplantar keratodermas v0.3 ALOXE3 Rebecca Foulger gene: ALOXE3 was added
gene: ALOXE3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 ALOX12B Rebecca Foulger gene: ALOX12B was added
gene: ALOX12B was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Autosomal recessive congenital ichthyosis
Palmoplantar keratodermas v0.3 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Palmoplantar keratodermas v0.3 ADAM17 Rebecca Foulger gene: ADAM17 was added
gene: ADAM17 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal
Palmoplantar keratodermas v0.3 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Neutral lipid storage disease
Palmoplantar keratodermas v0.3 ABCA12 Rebecca Foulger gene: ABCA12 was added
gene: ABCA12 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to autosomal recessive congenital ichthyosis; Harlequin ichthyosis
Palmoplantar keratodermas v0.3 AAGAB Rebecca Foulger gene: AAGAB was added
gene: AAGAB was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AAGAB were set to Palmoplantar keratoderma
Congenital hyperinsulinism v1.11 KDM6A Ivone Leong Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2
Congenital hyperinsulinism v1.10 KDM6A Ivone Leong Publications for gene: KDM6A were set to
Congenital hyperinsulinism v1.9 KDM6A Ivone Leong Mode of inheritance for gene: KDM6A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sporadic aniridia v1.0 Ellen McDonagh promoted panel to version 1.0
Hypophosphataemia or rickets v0.31 PHEX Martina Owens reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 19219621, 7550339; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypophosphataemia or rickets v0.31 FGF23 Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Classified gene: EIF2S3 as Green List (high evidence)
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Gene: eif2s3 has been classified as Green List (High Evidence).
Neonatal diabetes v1.23 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from to diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity
Neonatal diabetes v1.22 EIF2S3 Ivone Leong Publications for gene: EIF2S3 were set to
Neonatal diabetes v1.21 EIF2S3 Ivone Leong Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neonatal diabetes v1.20 COQ9 Ivone Leong Phenotypes for gene: COQ9 were changed from to neonatal hyperglycaemia; Primary Coenzyme Q10 Deficiency
Neonatal diabetes v1.19 COQ9 Ivone Leong Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.18 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Neonatal diabetes v1.17 COQ2 Ivone Leong Mode of inheritance for gene: COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.16 LPL Ivone Leong Mode of inheritance for gene: LPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.15 LPL Ivone Leong Publications for gene: LPL were set to
Neonatal diabetes v1.14 LPL Ivone Leong Phenotypes for gene: LPL were changed from to lipoprotein lipase deficiency; transient neonatal diabetes
Structural eye disease v0.8 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Severe microcephaly v1.47 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Deafness and congenital structural abnormalities v1.16 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Familial non syndromic congenital heart disease v1.41 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.143 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.613 ISCA-37494-Loss Louise Daugherty Triplosensitivity Score for ISCA-37494-Loss was changed from 3 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.612 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Monogenic diabetes v0.24 PLIN1 Ivone Leong Classified gene: PLIN1 as Green List (high evidence)
Monogenic diabetes v0.24 PLIN1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.24 PLIN1 Ivone Leong Gene: plin1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.23 PCBD1 Ivone Leong Classified gene: PCBD1 as Green List (high evidence)
Monogenic diabetes v0.23 PCBD1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.23 PCBD1 Ivone Leong Gene: pcbd1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Classified gene: ZBTB20 as Green List (high evidence)
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Gene: zbtb20 has been classified as Green List (High Evidence).
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Classified gene: PPP1R15B as Green List (high evidence)
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Gene: ppp1r15b has been classified as Green List (High Evidence).
Monogenic diabetes v0.20 PAX6 Ivone Leong Classified gene: PAX6 as Green List (high evidence)
Monogenic diabetes v0.20 PAX6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.20 PAX6 Ivone Leong Gene: pax6 has been classified as Green List (High Evidence).
Monogenic diabetes v0.19 DYRK1B Ivone Leong Classified gene: DYRK1B as Green List (high evidence)
Monogenic diabetes v0.19 DYRK1B Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.19 DYRK1B Ivone Leong Gene: dyrk1b has been classified as Green List (High Evidence).
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Classified gene: DNAJC3 as Green List (high evidence)
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Gene: dnajc3 has been classified as Green List (High Evidence).
Monogenic diabetes v0.17 DCAF17 Ivone Leong Classified gene: DCAF17 as Green List (high evidence)
Monogenic diabetes v0.17 DCAF17 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.17 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Green List (High Evidence).
Monogenic diabetes v0.16 CEL Ivone Leong Classified gene: CEL as Green List (high evidence)
Monogenic diabetes v0.16 CEL Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.16 CEL Ivone Leong Gene: cel has been classified as Green List (High Evidence).
Monogenic diabetes v0.15 APPL1 Ivone Leong Classified gene: APPL1 as Green List (high evidence)
Monogenic diabetes v0.15 APPL1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.15 APPL1 Ivone Leong Gene: appl1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.14 AKT2 Ivone Leong Classified gene: AKT2 as Green List (high evidence)
Monogenic diabetes v0.14 AKT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.31 DMP1 Martina Owens edited their review of gene: DMP1: Set current diagnostic: yes
Hypophosphataemia or rickets v0.31 ENPP1 Martina Owens reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137773, 20137772; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.15 Louise Daugherty List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy
Hypophosphataemia or rickets v0.31 DMP1 Martina Owens reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625, 17033621; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.68 RBM28 Martina Owens reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: PMID:20231366; Phenotypes: ANE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.13 USP7 Konstantinos Varvagiannis gene: USP7 was added
gene: USP7 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: USP7 were set to 26365382; 19946331
Phenotypes for gene: USP7 were set to Global developmental delay; Delayed speech and language development; Intellectual disability; Behavioral abnormality; Seizures; Abnormality of brain morphology; Hypogonadism
Penetrance for gene: USP7 were set to unknown
Review for gene: USP7 was set to GREEN
Added comment: Fountain et al. (2019 - doi.org/10.1038/s41436-019-0433-1 - PMID: NA) report on 23 individuals, all of whom harbored pathogenic de novo variants affecting USP7.

Variants included 8 deletions spanning USP7 (and other proximal genes - the gene is located at 16p13.2), 4 nonsense, 8 missense and 3 splice site mutations.

Haploinsufficiency appears to be the underlying mechanism (as suggested by the type of variants reported).

The common phenotype consisted of DD/ID (almost universal feature - 22/23) with prominent speech delay (23/23). Other features included seizures (10/22 - seen in all categories of USP7 variants), variable behavioral anomalies (incl. aggressive behavior, temper tantrums, ASD, ADHD), brain MRI abnormalities, as well as hypogonadism in some.

7 of these (23) individuals (6 with deletions, 1 with nonsense variant) were previously reported by the same group (2015 - Hao et al. - PMID: 26365382). In this study, the authors provided evidence that USP7 encodes a deubiquitinating enzyme, component of the MAGEL2/TRIM27 ubiquitin ligase complex. USP7 is involved in fine-tuning of the WASH activity - a protein involved in endosomal actin assembly and protein recycling - by promoting or limiting WASH ubiquitination (the former achieved by preventing TRIM27 autoubiquitination and degradation and the latter by direct WASH deubiquitination).

Overlap to some extent of the USP7-related phenotype with Schaaf-Yang syndrome (due to MAGEL2 mutations - MIM615547) is suggested.

In mice, Usp7 (or Hausp - herpesvirus-associated ubiquitin-specific protease) conditional knockout in brain results in neonatal lethality (PMID cited: 19946331).
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USP7 is not associated with any phenotype in OMIM.
This gene is part of the DD panel of G2P, associated with "Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism" (Disease confidence: possible).
------------
As a result, this gene can be considered for inlusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.611 USP7 Konstantinos Varvagiannis reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365382, 19946331; Phenotypes: Global developmental delay, Delayed speech and language development, Intellectual disability, Behavioral abnormality, Seizures, Abnormality of brain morphology, Hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v1.13 CYFIP2 Konstantinos Varvagiannis reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534297, 29667327, 30664714; Phenotypes: Epileptic encephalopathy, early infantile 65, 618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.611 CYFIP2 Konstantinos Varvagiannis gene: CYFIP2 was added
gene: CYFIP2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYFIP2 were set to 29534297; 29667327; 30664714; 25432536; 27524794; 12818175; 20537992
Phenotypes for gene: CYFIP2 were set to Epileptic encephalopathy, early infantile 65, 618008
Penetrance for gene: CYFIP2 were set to unknown
Review for gene: CYFIP2 was set to GREEN
gene: CYFIP2 was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in CYFIP2 cause Epileptic encephalopathy, early infantile, 65 (MIM 618008)
--------------
[Apologies for any eventual mistakes esp.as for the functional evidence]:

Nakashima et al. (2018 - PMID: 29534297) report on 4 unrelated individuals with early-onset epileptic encephalopathy due to de novo missense CYFIP2 variants.

The phenotype consisted of early-onset intractable seizures (diagnosis of West syndrome in 2, Ohtahara syndrome in further individuals) with hypotonia (3/4), DD/ID (4/4) and microcephaly (3/4).

All variants affected Arg87 residue (NM_001037333.2:c.259C>T or p.Arg87Cys in 2 individuals, the 2 other subjects harbored Arg87Leu and Arg87Pro respectively).

CYFIP2 encodes the cytoplasmic FMRP interacting protein 2. CYFIP2 (similar to CYFIP1) is a component of the WAVE regulatory complex (WRC) which has been shown to play a role in actin remodeling, axon elongation, dendritic morphogenesis and synaptic plasticity (several PMIDs cited).

In the inactive state of the WRC complex, CYFIP2 binds to the VCA domain of WAVE. GTP-bound Rac1 (GTPase) leads to release of the VCA domain from CYFIP2 which allows binding of this domain to the Arp2/3 complex (active WRC state) and in turn stimulates actin polymerization and lamellipodia formation.

Using lymphoblastoid cell lines from affected individuals and healthy controls and CYFIP2 expression was evaluated by Western Blot and was found to be similar between the 2 groups.

Additional studies suggested weaker binding of the WAVE1 VCA domain to mutant CYFIP2 compared to WT CYFIP2 (upon transfection of HEK293T cells). This could possibly favor activation of WRC (/the WAVE signalling pathway).

As a result a gain-of-function effect on the WAVE signalling pathway is suggested as a possible mechanism.

Using B16F1 mouse melanoma cells lamellipodia formation (process in which CYFIP2 has previously been implicated) was not shown to be impaired in the case of mutant CYFIP2. However aberrant accumulation of F-actin (and co-localization with mutant CYFIP2) was observed in the present study.

Only large 5q deletions spanning CYFIP2 (and several other genes) have been described to date.

Cyfip2 heterozygous knockout in mice results in abnormal behavior and memory loss. WAVE activity was enhanced (despite reduced WAVE protein production). Homozygous Cyfip2 loss is lethal (PMIDs cited by the authors: 25432536, 27524794). Impaired axonal growth, guidance and branching is noted in Drosophila mutants (CYFIP1/2 ortholog) (PMID cited: 12818175). The authors comment that Cyfip2 (nev) mutant zebrafish show a similar phenotype to mutant flies (PMID cited: 20537992).
--------------
Peng et al. (2018 - PMID: 29667327) in a study of 56 Chinese families with West Syndrome (epileptic/infantile spasms, hypsarrhytmia and ID) identified 1 individual with the Arg87Cys CYFIP2 variant as a de novo occurrence.
--------------
Zweier et al. (2019 - DDD study among the co-authors - PMID: 30664714) report on 12 unrelated subjects with heterozygous pathogenic de novo CYFIP2 variants.

The common phenotype consisted of tone abnormalities (12/12), DD/ID (12/12) and seizures (12/12 though a single individual had experienced a single episode of febrile seizure). Absolute or relative microcephaly and/or additional features were also noted in several individuals.

7 missense variants (4 occurrences of the Arg87Cys variant) as well as splice variant (shown to lead to exon skipping) are reported, as de novo events in these individuals. The splice variant was expected to escape NMD producing a truncating protein.

Although the variants are distantly located in the primary structure, spatial clustering (in the tertiary structure) is suggested by in silico modelling (all in proximity at the CYFIP2-WAVE1 interface).

CYFIP2 appears to be intolerant to both missense and LoF variants (Z-score of 6.15 and pLI of 1 respectively in ExAC).

The authors comment that haploinsufficiency as a mechanism is rather unlikely given the absence of small CNVs or variants predicted to lead to NMD. Again, a gain-of-function effect of these variants on WAVE activation (partial-loss-of function in terms of WRC stabilization and/or conformation of the VCA region in the inactive state) is proposed.
--------------
CYFIP2 is not associated with any phenotype in G2P.
The gene is included in gene panels for intellectual disability offered by some diagnostic laboratories (eg. participants in these studies).
--------------
As a result this gene could be considered for inclusion in this panel as green.
Sources: Literature
Intestinal failure or congenital diarrhoea v0.16 SPINT2 Miranda Durkie reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19185281, 24142340; Phenotypes: congenital sodium diarrhea, Congenital tufting enteropathy; Mode of inheritance: None
Intestinal failure or congenital diarrhoea v0.16 SLC9A3 Miranda Durkie reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26358773; Phenotypes: Congenital sodium diarrhea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.16 SLC26A3 Miranda Durkie reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25711268, 25568271, 26157392, 27525615, 26637435, 27784486, 28258656, 28644346, 30635044; Phenotypes: Congenital chloride diarrhea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v1.33 PKD2 Miranda Durkie edited their review of gene: PKD2: Added comment: Approximately 15% of cases of ADPKD due to mutations in this gene. Majority of mutations are truncating. PKD2 mutation is associated with significantly delayed onset of ESRD relative to PKD1 truncating mutations therefore has important therapeutic and prognostic implications; Changed publications: PMID: 28356211, 23431072 (and many more); Changed phenotypes: Polycystic kidney disease; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v1.33 DNAJB11 Miranda Durkie reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29706351; Phenotypes: Polycystic kidney disease, Tubulointerstitial kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.0 Louise Daugherty promoted panel to version 1.0
Neonatal diabetes v1.13 COQ9 Jayne Houghton reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 COQ2 Jayne Houghton reviewed gene: COQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 EIF2S3 Jayne Houghton reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140; Phenotypes: diabetes, intellectual disability, microcephaly, epilepsy, hypogonadism, hypogenitalism, central obesity; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Neonatal diabetes v1.13 LPL Jayne Houghton reviewed gene: LPL: Rating: RED; Mode of pathogenicity: None; Publications: 12408192; Phenotypes: lipoprotein lipase deficiency, transient neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 LPL Jayne Houghton Deleted their review
Brugada syndrome and cardiac sodium channel disease v1.17 HCN4 Oxford Medical Genetics Laboratory edited their review of gene: HCN4: Added comment: Mouse studies suggest homozygous knockout is embryonic lethal. Heterozygous littermates were phenotypically indistinguishable from WT. Most variants reported are in sick sinus syndrome or with sinus bradycardia. 2 variants id in this gene in isolated cases of brugada syndrome (1 was asymptomatic) - minimal evidence suggesting pathogenicity for BS. Suggest Red gene for BS - Green gene for sick sinus syndrome - Green gene on molecular autopsy panel. ; Changed rating: RED
Brugada syndrome and cardiac sodium channel disease v1.17 TRPM4 Oxford Medical Genetics Laboratory commented on gene: TRPM4: Evidence of variants in this gene leading to progressive familial heart block but not for BS.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN3B Oxford Medical Genetics Laboratory commented on gene: SCN3B: L10P variant reported in isolated male case with BS. L10P = 56 / 64583 (0.09 percentage) European individuals on gnomAD. Therefore no supportive evidence.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN1B Oxford Medical Genetics Laboratory commented on gene: SCN1B: Small number of variants reported to be pathogenic on ClinVar detected in an array of different patient cohorts including AF BS epilepsy cardiomyopathy conduction defects and epileptic encephalopathy. PMID 29758173 reports lack of genotype or phenotype correlations in families with BS or SADS with previously thought to be pathogenic variants in SCN1B.
Brugada syndrome and cardiac sodium channel disease v1.17 SCN10A Oxford Medical Genetics Laboratory commented on gene: SCN10A: On ClinVar just 1 variant in this gene is classified as pathogenic however it was detected in someone with episodic pain syndrome (not BS). All variants detected in Brugada syndrome (>100) classed as UV suggesting there is an absence of fundamental evidence that variants in this gene cause BS. Many of the variants detected in early reports of in this gene were later noted to have relatively high frequencies in populations therefore caution should be applied to previous case reports e.g. Hu et al 2014.
Brugada syndrome and cardiac sodium channel disease v1.17 KCNE3 Oxford Medical Genetics Laboratory commented on gene: KCNE3: Variants detected in individuals with 2 different phenotypes - Brugada syndrome and periodic paralysis. Abbot et al report expression at low levels in the heart. 2 variants reported: T4A which we would consider unlikely / polymorphism (0.4 percentage of East Asians on gnomAD). R99H - which has conflicting interpretations on ClinVar (unlikely UV likely and pathogenic). Could be a potential candidate gene but zero evidence at present.
Brugada syndrome and cardiac sodium channel disease v1.17 GPD1L Oxford Medical Genetics Laboratory commented on gene: GPD1L: PMID 17967977 - Identified variant through linkage and candidate gene approach. A280V detected in 16 phenotypically affected members of the family and in a further 27 phenotypically uncertain members. Functional studies suggest altered trafficking of SCN5A. Is in 25 of 126354 European alleles on gnomAD. PMID 17967976 - following detection of variant in PMID 17967977 this group screened SCD cases. E83K id in 3month old SCD which is in 37 of 128998 European alleles on GnomAD. PMID 17967976 - R273C in 1 month olf SIDS case which is in 12 of 111718 Europeans alleles in gnomAD. In conclusion - most variants identified to date are more frequent on gnomAD than the prevelance of Brugada syndrome which made it unlikely they are mendelian cause of disease.
Brugada syndrome and cardiac sodium channel disease v1.17 CACNB2 Oxford Medical Genetics Laboratory commented on gene: CACNB2: PMID 17224476 - Describe a new clinical entity consisting of ST-segment elevation V1-V3 and shorter than normal QTc. S481L segregation with ST elevation and shortened QTc with ajmaline challenge in 6 family members; only the proband and brother are described as symptomatic. PMID 19358333 - T11I variant identified in proband presenting with syncope St elevation negative T-wave QTc428. T11I is in a minor transcript that has an alternative exon 1. No details about family. PMID 22840528 - report 2 probands with variants in CACNB2B: V340I (found in 13 of 113696 European alleles on gnomAD) and E499D (found in 7 of 35436 Latino alleles on gnomAD). In conclusion - insufficient evidence for any one or combination of these variants to constitute high evidence.
Neonatal diabetes v1.13 LPL Jayne Houghton reviewed gene: LPL: Rating: RED; Mode of pathogenicity: None; Publications: 12408192; Phenotypes: lipoprotein lipase deficiency, transient neonatal diabetes; Mode of inheritance: Unknown; Current diagnostic: yes
Congenital hyperinsulinism v1.8 GPC3 Jayne Houghton reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301398; Phenotypes: neonatal hypoglycaemia, distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies, supernumerary nipples; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Short QT syndrome v1.2 SLC4A3 Oxford Medical Genetics Laboratory reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 SLC22A5 Oxford Medical Genetics Laboratory reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 KCNQ1 Oxford Medical Genetics Laboratory reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 KCNJ2 Oxford Medical Genetics Laboratory reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 KCNH2 Oxford Medical Genetics Laboratory reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v1.2 CACNA1C Oxford Medical Genetics Laboratory reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 COQ9 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 COQ2 Jayne Houghton Deleted their review
Long QT syndrome v1.10 SNTA1 Oxford Medical Genetics Laboratory commented on gene: SNTA1: 2 variants reported in the literature one of which Oxford lab classify as unlikely to be pathogenic (0.6% of Europeans on GnomAD). Limited functional evidence of link to arrhythmia - thought to act through interractions with SCN5A. Insufficient evidence to be green gene.
Long QT syndrome v1.10 KCNJ5 Oxford Medical Genetics Laboratory commented on gene: KCNJ5: This gene is linked to LQTS based on a large Chinese family with the p.Gly387Arg variant (Wang et al. (2013) HeartRhythm 10:1500_1506 Yang et al. 2010 American Journal of Human Genetics 86:872-880). However this variant is present in 47 out of 9424 South Asians in GnomAD (0.5 percent). Oxford lab classify as VUS. Therefore no evidence to support that variants in this gene cause LQTS.
Long QT syndrome v1.10 KCNE2 Oxford Medical Genetics Laboratory edited their review of gene: KCNE2: Added comment: Very little genetic variation in this gene. No significant evidence of pathogenic variants in this gene according to todays classification standards but it remains a good functional candidate. Happy for it to remain on the LQT panel. ; Changed rating: AMBER
Long QT syndrome v1.10 CALM1 Oxford Medical Genetics Laboratory commented on gene: CALM1: Most pathogenic variants are detected in individuals with CPVT. Oxford cohort have de novo variants in CALM1 in individuals with a cross over phenotype LQT or VT.
Long QT syndrome v1.10 ANK2 Oxford Medical Genetics Laboratory edited their review of gene: ANK2: Added comment: Ankyrin-B syndrome which is caused by pathogenic mutations in the ANK2 gene is a clinical entity distinct from classical Long QT syndrome. Mohler et al 2004 and Mohler et al 2007 identified that individuals with ANK2 mutations had a range of arrhythmic phenotypes - a prolonged QT interval was not always a feature. Caution should be applied when investigating variants detected in this gene as many variants that have previously been reported as pathogenic have been detected at high frequencies in ExAC. However there is good evidence that variants in this gene cause life threatening arrhythmias. Would like to see this gene on a general arrhythmia panel if not also on the LQTS panel. ; Changed rating: GREEN
Neonatal diabetes v1.13 COQ2 Jayne Houghton reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 COQ9 Jayne Houghton reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22831748; Phenotypes: Diabetes, insulin resistance, hepatomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis imperfecta v1.16 COL11A2 Duncan Baker reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta v1.16 COL11A1 Duncan Baker reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, Stickler syndrome, type II; Mode of inheritance: None
Monogenic diabetes v0.13 ISCA-37432-Loss Ivone Leong Classified Region: ISCA-37432-Loss as No list
Monogenic diabetes v0.13 ISCA-37432-Loss Ivone Leong Region: isca-37432-loss has been removed from the panel.
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Added comment: Comment on list classification: Evidence (publications) required to promoted this gene to Green.
Progressive cardiac conduction disease v0.12 SCN5A Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Classified gene: TRPM4 as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from the Oxford Medical Genetics Laboratory, provided by Kate McGuire.
Progressive cardiac conduction disease v0.11 TRPM4 Ellen McDonagh Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Monogenic diabetes v0.12 ISCA-37432-Loss Ivone Leong commented on Region: ISCA-37432-Loss
Progressive cardiac conduction disease v0.10 SCN5A Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence)
Progressive cardiac conduction disease v0.10 SCN5A Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Monogenic diabetes v0.12 WRN Ivone Leong Source Expert Review Removed was added to WRN.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 TFR2 Ivone Leong Source Expert Review Removed was added to TFR2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 STAT3 Ivone Leong Source Expert Review Removed was added to STAT3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 STAT1 Ivone Leong Source Expert Review Removed was added to STAT1.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 SLC40A1 Ivone Leong Source Expert Review Removed was added to SLC40A1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 SLC2A2 Ivone Leong Source Expert Review Removed was added to SLC2A2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 SLC19A2 Ivone Leong Source Expert Review Removed was added to SLC19A2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PTF1A Ivone Leong Source Expert Review Removed was added to PTF1A.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PSMB8 Ivone Leong Source Expert Review Removed was added to PSMB8.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 PPP1R3A Ivone Leong Source Expert Review Removed was added to PPP1R3A.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 POC1A Ivone Leong Source Expert Review Removed was added to POC1A.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 PCYT1A Ivone Leong Source Expert Review Removed was added to PCYT1A.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PCNT Ivone Leong Source Expert Review Removed was added to PCNT.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PAX4 Ivone Leong Source Expert Review Removed was added to PAX4.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 NSMCE2 Ivone Leong Source Expert Review Removed was added to NSMCE2.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 NKX2-2 Ivone Leong Source Expert Review Removed was added to NKX2-2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 NEUROG3 Ivone Leong Source Expert Review Removed was added to NEUROG3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 MNX1 Ivone Leong Source Expert Review Removed was added to MNX1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 LRBA Ivone Leong Source Expert Review Removed was added to LRBA.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 LIPC Ivone Leong Source Expert Review Removed was added to LIPC.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 KLF11 Ivone Leong Source Expert Review Removed was added to KLF11.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 IL2RA Ivone Leong Source Expert Review Removed was added to IL2RA.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 IER3IP1 Ivone Leong Source Expert Review Removed was added to IER3IP1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HFE2 Ivone Leong Source Expert Review Removed was added to HFE2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HFE Ivone Leong Source Expert Review Removed was added to HFE.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HAMP Ivone Leong Source Expert Review Removed was added to HAMP.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 GLIS3 Ivone Leong Source Expert Review Removed was added to GLIS3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 FOXP3 Ivone Leong Source Expert Review Removed was added to FOXP3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 FOXC2 Ivone Leong Source Expert Review Removed was added to FOXC2.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 FGFR3 Ivone Leong Source Expert Review Removed was added to FGFR3.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 EIF2AK3 Ivone Leong Source Expert Review Removed was added to EIF2AK3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 ENPP1 Ivone Leong Source Expert Review Removed was added to ENPP1.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 DMXL2 Ivone Leong Source Expert Review Removed was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Monogenic diabetes v0.12 CAVIN1 Ivone Leong Source Expert Review Removed was added to CAVIN1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BSCL2 Ivone Leong Source Expert Review Removed was added to BSCL2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BLM Ivone Leong Source Expert Review Removed was added to BLM.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BLK Ivone Leong Source Expert Review Removed was added to BLK.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 ALMS1 Ivone Leong Source Expert Review Removed was added to ALMS1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 AGPAT2 Ivone Leong Source Expert Review Removed was added to AGPAT2.
Rating Changed from Green List (high evidence) to No List (delete)
Progressive cardiac conduction disease v0.9 TRPM4 Oxford Medical Genetics Laboratory reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19726882, 20562447, 21887725; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.9 SCN5A Oxford Medical Genetics Laboratory reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK (113900), CARDIAC CONDUCTION DEFECT, PROGRESSIVE, BUNDLE BRANCH BLOCK, HEART BLOCK, PROGRESSIVE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.8 TRPM4 Ellen McDonagh gene: TRPM4 was added
gene: TRPM4 was added to Progressive cardiac conduction disease. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725
Phenotypes for gene: TRPM4 were set to PROGRESSIVE FAMILIAL HEART BLOCK,
Progressive cardiac conduction disease v0.8 SCN5A Ellen McDonagh Source Wessex and West Midlands GLH was added to SCN5A.
Added phenotypes CARDIAC CONDUCTION DEFECT, PROGRESSIVE; HEART BLOCK, PROGRESSIVE; BUNDLE BRANCH BLOCK; PROGRESSIVE FAMILIAL HEART BLOCK (113900) for gene: SCN5A
Monogenic diabetes v0.11 WRN Ivone Leong reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 TFR2 Ivone Leong reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 STAT3 Ivone Leong reviewed gene: STAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 STAT1 Ivone Leong reviewed gene: STAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC40A1 Ivone Leong reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC2A2 Ivone Leong reviewed gene: SLC2A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PTF1A Ivone Leong reviewed gene: PTF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PSMB8 Ivone Leong reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PPP1R3A Ivone Leong reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 POC1A Ivone Leong reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PCYT1A Ivone Leong reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PCNT Ivone Leong reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PAX4 Ivone Leong reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NSMCE2 Ivone Leong reviewed gene: NSMCE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NKX2-2 Ivone Leong reviewed gene: NKX2-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NEUROG3 Ivone Leong reviewed gene: NEUROG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 MNX1 Ivone Leong reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 LRBA Ivone Leong reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 LIPC Ivone Leong reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 KLF11 Ivone Leong reviewed gene: KLF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 IL2RA Ivone Leong reviewed gene: IL2RA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HFE2 Ivone Leong reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HFE Ivone Leong reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HAMP Ivone Leong reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 GLIS3 Ivone Leong reviewed gene: GLIS3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FOXP3 Ivone Leong reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FOXC2 Ivone Leong reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FGFR3 Ivone Leong reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 EIF2AK3 Ivone Leong reviewed gene: EIF2AK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 ENPP1 Ivone Leong reviewed gene: ENPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 DMXL2 Ivone Leong reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 CAVIN1 Ivone Leong reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 BSCL2 Ivone Leong reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.16 COPB2 Duncan Baker gene: COPB2 was added
gene: COPB2 was added to Osteogenesis imperfecta. Sources: Expert list
Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COPB2 were set to Marom et al 2018 ASBMR: COPB2 Loss of Function Leads to Disrupted Collagen Trafficking and Juvenile Osteoporosis
Phenotypes for gene: COPB2 were set to juvenile osteoporosis
Review for gene: COPB2 was set to AMBER
Added comment: New gene. One report linking to juvenile osteoporosis
Sources: Expert list
Monogenic diabetes v0.10 BLM Ivone Leong commented on gene: BLM
Monogenic diabetes v0.10 BLK Ivone Leong commented on gene: BLK
Monogenic diabetes v0.10 ALMS1 Ivone Leong commented on gene: ALMS1
Monogenic diabetes v0.10 AGPAT2 Ivone Leong commented on gene: AGPAT2
Osteogenesis imperfecta v1.16 NUDT6 Duncan Baker gene: NUDT6 was added
gene: NUDT6 was added to Osteogenesis imperfecta. Sources: Expert list
Mode of inheritance for gene: NUDT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT6 were set to Essawi et al A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta.
Phenotypes for gene: NUDT6 were set to recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis.
Review for gene: NUDT6 was set to AMBER
Added comment: New gene, one report linking to OI phenotype.
Sources: Expert list
Ocular coloboma v1.23 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.610 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Deafness and congenital structural abnormalities v1.15 ISCA-37396-Loss Louise Daugherty Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoketotic hypoglycemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton Deleted their review
Congenital hyperinsulinism v1.8 AKT2 Jayne Houghton reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoketotic hypoglycemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited bleeding disorders v1.148 GBA Kate Downes reviewed gene: GBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hyperinsulinism v1.8 FOXA2 Jayne Houghton reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29329447, 28973288; Phenotypes: Hyperinsulinism, hypopituitarism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 CACNA1D Jayne Houghton reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 CACNA1D Jayne Houghton Deleted their review
Congenital hyperinsulinism v1.8 INSR Jayne Houghton reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 15161766; Phenotypes: hyperinsulinemic hypoglycaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital hyperinsulinism v1.8 CACNA1D Jayne Houghton reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28318089; Phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism v1.8 PMM2 Jayne Houghton reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28373276; Phenotypes: Hyperinsulinemic Hypoglycaemia, polycystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis imperfecta v1.16 TRPV6 Duncan Baker reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29861107; Phenotypes: hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.609 ISCA-46299-Gain Louise Daugherty Haploinsufficiency Score for ISCA-46299-Gain was changed from 0 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 GGCX Duncan Baker reviewed gene: GGCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Genes for PXE are not required for this panel; Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.608 ISCA-37494-Loss Louise Daugherty Classified Region: ISCA-37494-Loss as Green List (high evidence)
Intellectual disability v2.608 ISCA-37494-Loss Louise Daugherty Region: isca-37494-loss has been classified as Green List (High Evidence).
Structural eye disease v0.7 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Structural eye disease v0.7 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Deafness and congenital structural abnormalities v1.14 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Deafness and congenital structural abnormalities v1.14 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Ocular coloboma v1.22 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Ocular coloboma v1.22 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Severe microcephaly v1.46 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Severe microcephaly v1.46 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Deafness and congenital structural abnormalities v1.13 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Deafness and congenital structural abnormalities v1.13 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.40 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Familial non syndromic congenital heart disease v1.40 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Skeletal dysplasia v1.142 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Skeletal dysplasia v1.142 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Intellectual disability v2.607 ISCA-37494-Gain Louise Daugherty Classified Region: ISCA-37494-Gain as Green List (high evidence)
Intellectual disability v2.607 ISCA-37494-Gain Louise Daugherty Region: isca-37494-gain has been classified as Green List (High Evidence).
Intellectual disability v2.606 ISCA-46299-Gain Louise Daugherty Classified Region: ISCA-46299-Gain as Green List (high evidence)
Intellectual disability v2.606 ISCA-46299-Gain Louise Daugherty Region: isca-46299-gain has been classified as Green List (High Evidence).
Intellectual disability v2.605 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Intellectual disability v2.605 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Intellectual disability v2.604 ISCA-37396-Loss Louise Daugherty Classified Region: ISCA-37396-Loss as Green List (high evidence)
Intellectual disability v2.604 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Green List (High Evidence).
Intellectual disability v2.603 ISCA-37396-Loss Louise Daugherty Marked Region: ISCA-37396-Loss as ready
Intellectual disability v2.603 ISCA-37396-Loss Louise Daugherty Region: isca-37396-loss has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.90 RRM2B Rebecca Foulger Phenotypes for gene: RRM2B were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive) to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive)
Likely inborn error of metabolism v1.46 RRM2B Rebecca Foulger Phenotypes for gene: RRM2B were changed from 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
Mitochondrial disorders v1.96 RRM2B Rebecca Foulger Phenotypes for gene: RRM2B were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive) to Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive)
Cholestasis v0.11 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 17558409; 19574260
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 (611561); Joubert syndrome 7 (611560); COACH syndrome (216360)
Cholestasis v0.11 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 28680603; 16415887; 26191240; 19058225
Phenotypes for gene: TMEM67 were set to COACH syndrome (216360); {Bardet-Biedl syndrome 14, modifier of} (615991); Nephronophthisis 11 (613550); Meckel syndrome 3 (607361); Joubert syndrome 6 (310688); congenital hepatic fibrosis
Likely inborn error of metabolism v1.45 SSR4 Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934
Congenital disorders of glycosylation v1.21 SSR4 Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934
Undiagnosed metabolic disorders v1.89 SSR4 Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Marked gene: TTC37 as ready
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.16 TTC37 Ivone Leong Gene: ttc37 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Marked gene: STXBP2 as ready
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.16 STXBP2 Ivone Leong Gene: stxbp2 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.16 STX3 Ivone Leong Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease; congenital diarrheal disorder
Intestinal failure or congenital diarrhoea v0.15 STX3 Ivone Leong Publications for gene: STX3 were set to 24726755; 29266534
Intestinal failure or congenital diarrhoea v0.14 DGAT1 Ivone Leong Mode of inheritance for gene: DGAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.13 STX3 Ivone Leong Publications for gene: STX3 were set to
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Marked gene: SKIV2L as ready
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 SKIV2L Ivone Leong Gene: skiv2l has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Marked gene: MYO5B as ready
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 MYO5B Ivone Leong Gene: myo5b has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Marked gene: GUCY2C as ready
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 GUCY2C Ivone Leong Gene: gucy2c has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Marked gene: EPCAM as ready
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.44 TWNK Rebecca Foulger Phenotypes for gene: TWNK were changed from Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
Undiagnosed metabolic disorders v1.88 TWNK Rebecca Foulger Phenotypes for gene: TWNK were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ; Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic)
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Marked gene: DGAT1 as ready
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Gene: dgat1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.95 TWNK Rebecca Foulger Phenotypes for gene: TWNK were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic)
Intestinal failure or congenital diarrhoea v0.12 DGAT1 Ivone Leong Phenotypes for gene: DGAT1 were changed from to Congenital diarrheal disorder
Intestinal failure or congenital diarrhoea v0.11 DGAT1 Ivone Leong Publications for gene: DGAT1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.29 SKIV2L Ivone Leong commented on gene: SKIV2L
Non-acute porphyrias v0.11 GATA1 Ivone Leong Marked gene: GATA1 as ready
Non-acute porphyrias v0.11 GATA1 Ivone Leong Gene: gata1 has been classified as Amber List (Moderate Evidence).
Non-acute porphyrias v0.11 UROS Ivone Leong Marked gene: UROS as ready
Non-acute porphyrias v0.11 UROS Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 UROS Ivone Leong Gene: uros has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 UROD Ivone Leong Marked gene: UROD as ready
Non-acute porphyrias v0.11 UROD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 UROD Ivone Leong Gene: urod has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 PPOX Ivone Leong Marked gene: PPOX as ready
Non-acute porphyrias v0.11 PPOX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 PPOX Ivone Leong Gene: ppox has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 HMBS Ivone Leong Marked gene: HMBS as ready
Non-acute porphyrias v0.11 HMBS Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 HMBS Ivone Leong Gene: hmbs has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 FECH Ivone Leong Marked gene: FECH as ready
Non-acute porphyrias v0.11 FECH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 FECH Ivone Leong Gene: fech has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 CPOX Ivone Leong Marked gene: CPOX as ready
Non-acute porphyrias v0.11 CPOX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 CPOX Ivone Leong Gene: cpox has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Marked gene: ALAS2 as ready
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Gene: alas2 has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 ALAD Ivone Leong Marked gene: ALAD as ready
Non-acute porphyrias v0.11 ALAD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 ALAD Ivone Leong Gene: alad has been classified as Green List (High Evidence).
Pancreatitis v1.4 CFTR Ivone Leong Marked gene: CFTR as ready
Pancreatitis v1.4 CFTR Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pancreatitis v1.4 CFTR Ivone Leong Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v1.4 PRSS1 Ivone Leong Marked gene: PRSS1 as ready
Pancreatitis v1.4 PRSS1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pancreatitis v1.4 PRSS1 Ivone Leong Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v1.4 SPINK1 Ivone Leong Marked gene: SPINK1 as ready
Pancreatitis v1.4 SPINK1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: SPINK1 is associated with the phenotype; however, penetrance is low. The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pancreatitis v1.4 SPINK1 Ivone Leong Gene: spink1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.43 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
Mitochondrial disorders v1.94 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Undiagnosed metabolic disorders v1.87 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Structural eye disease v0.6 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Structural eye disease. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Deafness and congenital structural abnormalities v1.12 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Deafness and congenital structural abnormalities. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Ocular coloboma v1.21 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Ocular coloboma. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Severe microcephaly v1.45 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Likely inborn error of metabolism v1.42 MDH2 Eleanor Williams Phenotypes for gene: MDH2 were changed from Epileptic encephalopathy, early infantile, 51 to Epileptic encephalopathy, early infantile, 51 617339
Mitochondrial disorders v1.93 SLC25A13 Rebecca Foulger Phenotypes for gene: SLC25A13 were changed from Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 to Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814
Intellectual disability v2.603 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Mitochondrial disorders v1.92 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Undiagnosed metabolic disorders v1.86 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Likely inborn error of metabolism v1.41 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908
Likely inborn error of metabolism v1.40 SAMHD1 Rebecca Foulger Phenotypes for gene: SAMHD1 were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) to (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5); Aicardi-Goutieres syndrome 5, 612952
Familial non syndromic congenital heart disease v1.39 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Familial non syndromic congenital heart disease. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Deafness and congenital structural abnormalities v1.11 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Deafness and congenital structural abnormalities. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Skeletal dysplasia v1.141 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Intellectual disability v2.602 ISCA-37494-Gain Louise Daugherty Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Intellectual disability. Sources: Expert list
Mode of inheritance for Region: ISCA-37494-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37494-Gain were set to 25927380; 21984752; 24357492
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome, 300815; X linked intellectual disability (XLID); PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes; PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip); PMID:24357492 Cognitive impairment in male patients
Review for Region: ISCA-37494-Gain was set to GREEN
Added comment: Sources: Expert list
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker commented on gene: ABCC6
Intellectual disability v2.601 ISCA-37494-Loss Louise Daugherty Region: ISCA-37494-Loss was added
Region: ISCA-37494-Loss was added to Intellectual disability. Sources: Expert list
Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37494-Loss were set to 25927380; 21984752
Phenotypes for Region: ISCA-37494-Loss were set to PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; deletion results in skewed chromosome X inactivation and no clinical phenotype in females; PMID: 21984752 in utero male lethality with deletions
Review for Region: ISCA-37494-Loss was set to GREEN
Added comment: Sources: Expert list
Congenital hyperinsulinism v1.8 KDM6A Anna de Burca Classified gene: KDM6A as Green List (high evidence)
Congenital hyperinsulinism v1.8 KDM6A Anna de Burca Gene: kdm6a has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.7 KMT2D Anna de Burca Classified gene: KMT2D as Green List (high evidence)
Congenital hyperinsulinism v1.7 KMT2D Anna de Burca Gene: kmt2d has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.6 KMT2D Anna de Burca reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29907798; Phenotypes: Kabuki syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.600 ISCA-46299-Gain Louise Daugherty Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Intellectual disability. Sources: Expert list
Mode of inheritance for Region: ISCA-46299-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-46299-Gain were set to 22840365; 20655035; 26692240
Phenotypes for Region: ISCA-46299-Gain were set to X linked intellectual disability (XLID); PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate; PMID:22840365 Mild intellectual disability; PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)
Review for Region: ISCA-46299-Gain was set to GREEN
Added comment: Sources: Expert list
Congenital hyperinsulinism v1.6 KDM6A Anna de Burca reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29907798; Phenotypes: Kabuki syndrome 2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v2.599 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Intellectual disability. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Intellectual disability v2.598 ISCA-37396-Loss Louise Daugherty Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Intellectual disability. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Sources: Expert list
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Classified gene: GAS2L2 as Amber List (moderate evidence)
Primary ciliary disorders v1.16 GAS2L2 Anna de Burca Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.15 GAS2L2 Anna de Burca gene: GAS2L2 was added
gene: GAS2L2 was added to Primary ciliary disorders. Sources: Expert Review
watchlist tags were added to gene: GAS2L2.
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to PMID: 30665704
Phenotypes for gene: GAS2L2 were set to Primary ciliary dyskinesia
Review for gene: GAS2L2 was set to AMBER
Added comment: PMID: 30665704 reports two unrelated individuals with clinical features of primary ciliary dyskinesia, one of whom had a homozygous frameshift variant in GAS2L2; the other was a compound heterozygote for the same variant and an intragenic deletion in GAS2L2. Cultured cells from one of the patients showed evidence of ciliary dysfunction and there was functional evidence of ciliary dysfunction in Xenopus and mouse knockouts.
Sources: Expert Review
Progressive cardiac conduction disease v0.7 SCN5A Anna de Burca gene: SCN5A was added
gene: SCN5A was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN5A were set to Heart block, progressive, type IA; Lenegre-Lev disease
Review for gene: SCN5A was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.6 PRKAG2 Anna de Burca gene: PRKAG2 was added
gene: PRKAG2 was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects
Review for gene: PRKAG2 was set to AMBER
Added comment: Sources: Expert list
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A2 Duncan Baker reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 184840 autosomal dominant otospondylomegaepiphyseal dysplasia, OMIM 215150 utosomal recessive otospondylomegaepiphyseal dysplasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive cardiac conduction disease v0.5 DES Anna de Burca gene: DES was added
gene: DES was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Desminopathy-associated AV conduction block
Review for gene: DES was set to AMBER
Added comment: Sources: Expert list
Progressive cardiac conduction disease v0.4 LMNA Anna de Burca gene: LMNA was added
gene: LMNA was added to Progressive cardiac conduction disease. Sources: Expert list
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Laminopathy-associated AV conduction block
Review for gene: LMNA was set to AMBER
Added comment: Sources: Expert list
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A1 Duncan Baker reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: omim 145780 Marshal syndrome, OMIM 604841 Stickler syndrom II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL2A1 Duncan Baker reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 120140 Stickler syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v1.39 HTRA2 Eleanor Williams Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII to 3-methylglutaconic aciduria, type VIII 617248
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A3 Duncan Baker reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple epiphyseal dysplasia; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A2 Duncan Baker reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A1 Duncan Baker reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 NOTCH1 Duncan Baker reviewed gene: NOTCH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bicuspid, or bicommissural, aortic valve (BAV); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause v1.40 SMAD4 Duncan Baker reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v1.40 MYLK Duncan Baker reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
DDG2P v0.54 NPHP3 Rebecca Foulger Source DD-Gene2Phenotype was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.54 DYNC2H1 Rebecca Foulger Source DD-Gene2Phenotype was added to DYNC2H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.53 PHACTR1 Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.52 PHACTR1 Rebecca Foulger gene: PHACTR1 was added
gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder
Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments
DDG2P v0.51 CAD Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is present in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM and other PanelApp panels.
DDG2P v0.51 CAD Rebecca Foulger Mode of inheritance for gene: CAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.64 CAD Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI was given in the original PAGE file or in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM, and other PanelApp panels.
Fetal anomalies v0.64 CAD Rebecca Foulger Mode of inheritance for gene: CAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.8 TSPEAR Tom Cullup gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal dysplasia. Sources: Expert list
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
Penetrance for gene: TSPEAR were set to Complete
Review for gene: TSPEAR was set to GREEN
Added comment: Sources: Expert list
Cholestasis v0.10 SERPINA1 Anna de Burca reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30589493; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.10 DGAT1 Miranda Durkie reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23114594, 26883093, 28937539, 28373485; Phenotypes: Congenital diarrheal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.82 MFAP5 Anna de Burca reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26854089; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v1.38 NDUFS4 Eleanor Williams Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency to Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency
Mitochondrial disorders v1.91 NDUFS4 Eleanor Williams Phenotypes for gene: NDUFS4 were changed from Isolated complex I deficiency; Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Isolated complex I deficiency; Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency
Osteogenesis imperfecta v1.16 GORAB Duncan Baker reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18997784, PMID: 28807865; Phenotypes: congenital wrinkly skin, prematurely aged face, extremely short stature, osteoporosis leading to recurrent fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta v1.16 DSPP Duncan Baker reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29512331, PMID: 26973538, PMID: 27973701; Phenotypes: Dentinogenesis Imperfecta; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta v1.16 NBAS Duncan Baker reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27789416; Phenotypes: bone fragility, immunodeficiency, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta v1.16 CREB3L1 Duncan Baker reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29936144, PMID: 30657919; Phenotypes: severe/lethal OI, blue sclera, tooth agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v0.142 RAG2 Louise Daugherty Added comment: Comment on publications: added further publications to support gene-disease association and rating of this gene to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.142 RAG2 Louise Daugherty Publications for gene: RAG2 were set to 24996264
Respiratory ciliopathies including non-CF bronchiectasis v0.141 RAG1 Louise Daugherty Added comment: Comment on publications: added further publications to support gene-disease association and rating of this gene to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.141 RAG1 Louise Daugherty Publications for gene: RAG1 were set to 24996264
Respiratory ciliopathies including non-CF bronchiectasis v0.140 RAG2 Louise Daugherty Phenotypes for gene: RAG2 were changed from to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
Respiratory ciliopathies including non-CF bronchiectasis v0.139 RAG1 Louise Daugherty Phenotypes for gene: RAG1 were changed from to Combined immunodeficiency (CID); Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG1 Louise Daugherty commented on gene: RAG1: Update from From GMS Respiratory Specialist Test Group member Ian Berry. Suggested phenotype from Sinisa Savic : Combined immunodeficiency (CID), and combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) are both associated with early onset and progressive lung disease.
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG2 Louise Daugherty commented on gene: RAG2: Update from From GMS Respiratory Specialist Test Group member Ian Berry. Suggested phenotype from Sinisa Savic : Combined immunodeficiency (CID), and combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A) are both associated with early onset and progressive lung disease.
Fetal anomalies v0.63 NOTCH1 Rebecca Foulger edited their review of gene: NOTCH1: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Clefting', 'Skeletal dysplasia' and 'Limb disorders' panels. Sufficient evidence for causation: >3 unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome, as reviewed on the 'Limb disorders' panel.; Changed rating: GREEN; Changed publications: 27077170, 25132448, 25963545; Changed phenotypes: Adams-Oliver syndrome 5, 616028
Fetal anomalies v0.63 USP18 Rebecca Foulger edited their review of gene: USP18: Added comment: Rated as 'Probable' in original PAGE list. Rated green on 'Intracerebral calcification disorders' panel and phenotype (pseudo-TORCH syndrome) is appropriate for Fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). However, kept rating as Amber for now based on insufficient evidence to support causation: One publication (Meuwissen et al. 2016, PMID:27325888) with two families (Turkish and German) with pseudo-TORCH syndrome-2 and homozygous or compound het variants in USP18. Segregation shown in 5 affected individuals plus an unaffected sibling. Cells from patients in both families showed complete absence of the USP18 protein.; Changed publications: 27325888; Changed phenotypes: Pseudo-TORCH syndrome 2, 617397
Fetal anomalies v0.63 TRIP4 Rebecca Foulger edited their review of gene: TRIP4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Paediatric motor neuronopathies' and 'Neuromuscular disorders' panels. Sufficient cases from one paper to support causation: 5 patients from 3 unrelated families (from Kosovo and Albania) with spinal muscular atrophy with congenital bone fractures-1 (MIM:616866) where Knierim et al. (2016, PMID:26924529) identified homozygous or compound het truncating variants in the TRIP4 gene.; Changed rating: GREEN; Changed publications: 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 1, 616866
Fetal anomalies v0.63 TBX18 Rebecca Foulger edited their review of gene: TBX18: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'CAKUT' panel with the phenotype 'Congenital anomalies of kidney and urinary tract 2'. Sufficient cases to support association from one paper:PMID:26235987 (2015) shows variants in 3 unrelated families with a variety of renal malformations.; Changed rating: GREEN; Changed publications: 26235987; Changed phenotypes: Congenital anomalies of kidney and urinary tract 2, 143400
Fetal anomalies v0.63 TAPT1 Rebecca Foulger edited their review of gene: TAPT1: Added comment: Rated as 'Probable' in original PAGE list. Rated Green on the Osteogenesis imperfecta V1.14 panel, and phenotype (COMPLEX LETHAL OSTEOCHONDRODYSPLASIA) is appropriate for Fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). However, kept rating as Amber for now based on insufficient evidence to support causation: 2 families (Moroccan and Syrian) reported in OMIM with no further cases identified from the literature.; Changed publications: 26365339; Changed phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897
Fetal anomalies v0.63 RBPJ Rebecca Foulger edited their review of gene: RBPJ: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia' and 'Limb disorders' panels with the 'Adams-Oliver syndrome 3, 614219' phenotype. Sufficient cases to support causation: 2 families reported in OMIM from PMID:22883147, plus additional cases of RBPJ variants causing Adams-Oliver syndrome 3 in PMID:28160419.; Changed rating: GREEN; Changed publications: 22883147, 28160419; Changed phenotypes: Adams-Oliver syndrome 3, 614814
Fetal anomalies v0.63 LGI4 Rebecca Foulger edited their review of gene: LGI4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis', 'Congenital myopathy', 'Neuromuscular disorders' and 'Intellectual disability' panels. Sufficient evidence to support causation: 4 unrelated families with neurogenic arthrogryposis multiplex congenita with myelin defect (MIM:617468) and homozygous/compound heterozygous LGI4 variants from PMID:28318499 (Xue et al 2017).; Changed rating: GREEN; Changed publications: 28318499; Changed phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
Fetal anomalies v0.63 GLDN Rebecca Foulger edited their review of gene: GLDN: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis' panel, and 4 families assocaited with 'Lethal congenital contracture syndrome 11, 617194' phenotype in OMIM, all from PMID:27616481 (Maluenda 2016).; Changed rating: GREEN; Changed publications: 27616481; Changed phenotypes: Lethal congenital contracture syndrome 11, 617194
Fetal anomalies v0.63 EPHB4 Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Primary lymphoedema' panel. Sufficient evidence to support hydrops fetalis association as part of MIM:617300, with 3 variants listed in OMIM from 3 families, each with multiple affected individuals (PMIDs:27400125 and 29905864).; Changed rating: GREEN; Changed publications: 27400125, 29905864; Changed phenotypes: Lymphatic malformation 7, 617300
Fetal anomalies v0.63 DOCK6 Rebecca Foulger edited their review of gene: DOCK6: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders' panels with the 'Adams-Oliver syndrome 2, 614219' phenotype. Sufficient (>3) unrelated cases in OMIM of DOCK6 variants associated with MIM:614219.; Changed rating: GREEN; Changed publications: 23522784, 25824905, 21820096; Changed phenotypes: Adams-Oliver syndrome 2, 614219
Fetal anomalies v0.63 CNTNAP1 Rebecca Foulger edited their review of gene: CNTNAP1: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis' V2.37 panel, and 4 families in OMIM associated with LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (from PMID:24319099/Laquerriere et al 2014).; Changed rating: GREEN; Changed publications: 24319099; Changed phenotypes: Lethal congenital contracture syndrome 7, 616286
Fetal anomalies v0.63 ARHGAP31 Rebecca Foulger edited their review of gene: ARHGAP31: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders panels with the 'Adams-Oliver syndrome 1, 100300' phenotype. 2 variants reported for MIM:100300 in OMIM from PMID:21565291, plus another case in Meester et al (2018) (PMID:29924900).; Changed rating: GREEN; Changed publications: 21565291, 29924900; Changed phenotypes: Adams-Oliver syndrome 1, 100300
Fetal anomalies v0.63 AKT3 Rebecca Foulger edited their review of gene: AKT3: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated Green on the 'Hydrocephalus', 'Malformations of cortical development' and 'Segmental overgrowth disorders' panels. Sufficient evidence to support causation: 3 AKT3 variants and multiple unrelated cases documented on OMIM to support association with 'Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937'.; Changed rating: GREEN; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
Intellectual disability v2.597 PLEKHG2 Konstantinos Varvagiannis gene: PLEKHG2 was added
gene: PLEKHG2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PLEKHG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHG2 were set to 26539891; 26573021; 24001768
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, 616763
Penetrance for gene: PLEKHG2 were set to unknown
Review for gene: PLEKHG2 was set to AMBER
gene: PLEKHG2 was marked as current diagnostic
Added comment: Karaca et al. (2015 - PMID: 26539891) in a study of 128 - mostly consanguineous - families with neurogenetic disorders and brain malformations, identified an individual homozygous for a PLEKHG2 missense variant (NM_022835.2:c.1708G>A or p.Gly570Arg). This individual (BAB4830) had a similarly affected sib. Features included hypotonia, intellectual disability, microcephaly, cerebellar atrophy and nystagmus (description provided in supplement - Table S1). This variant has been submitted in ClinVar as likely pathogenic by the corresponding laboratory (SCV000537940.1).
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Edvardson et al. (2016 - PMID: 26573021) reported on 5 individuals from 2 unrelated consanguineous Palestinian families, harboring a missense variant in the homozygous state (NM_022835.2:c.610C>T or p.Arg204Trp - 1/5 was unavailable for testing).
Unaffected relatives here either heterozygous for this variant or homozygous for the reference allele.

Common features included hypotonia (5/5), DD/ID (5/5), postnatal microcephaly (5/5), dystonia (3/5), nystagmus (2/5) or seizures (1/5) [many of these similar to those reported by Karaca et al]. Brain MRI images were consistent with leukodystrophy and prolonged relaxation of dorsal tegmental tracts (similar findings were not commented by Karaca et al).

PLEKHG2 encodes a Rho guanine exchange factor (RhoGEF). RhoGEFs activate RhoGTPases through release of GDP and binding of GTP. Mutations in other RhoGEFs have been associated with neurodevelopmental disorders.

PLEKHG2 activity was shown to be significantly decreased in HEK293A cells transfected with R204W-PLEKHG2 when compared to tranfection with wt. Western blotting suggested that this was not the result of defective expression.

Using lymphoblastoid cell lines from peripheral B lymphocytes from individuals homozygous for R204W and controls, similar levels of expression were shown between the 2 groups.

As the authors note, PLEKHG2 is required for Rac- and Cdc42-stimulated actin polymerization in leukocytes (PMID cited: 24001768).

SDF1a-stimulated actin polymerization was studied in patient cells and was shown to be significantly impaired. In line with this actin polymerization was also impaired upon siRNA-mediated downregulation of PLEKHG2 expression in control cells.
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A subsequent submission of the Gly570Arg variant in ClinVar (2017 - SCV000609979.1 - same variant as the one reported by Karaca et al) reports this as a VUS.
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PLEKHG2 is associated with Leukodystrophy and acquired microcephaly with or without dystonia (616763) in OMIM.
This gene is not associated with any phenotype in G2P.
PLEKHG2 is included in gene panels for ID offered by some diagnostic laboratories.
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As a result, this gene could be considered for inclusion in this panel probably as amber (or green if the current evidence is considered to be sufficient).
Sources: Literature
Likely inborn error of metabolism v1.37 FXN Eleanor Williams Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Mitochondrial disorders v1.90 FXN Eleanor Williams Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300
Surfactant deficiency v0.9 SFTPA2 Louise Daugherty gene: SFTPA2 was added
gene: SFTPA2 was added to Surfactant deficiency. Sources: Expert list
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic, 178500
Review for gene: SFTPA2 was set to AMBER
Added comment: Gene added to panel as suggestion from GMS Respiratory Specialist Test Group webex call 18th Jan 2019- To check with GOSH regarding inclusion/rating before versioning panel
Sources: Expert list
Surfactant deficiency v0.8 TERT Louise Daugherty edited their review of gene: TERT: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red; Changed rating: RED
Surfactant deficiency v0.8 NKX2-1 Louise Daugherty commented on gene: NKX2-1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green
Surfactant deficiency v0.8 CSF2RB Louise Daugherty edited their review of gene: CSF2RB: Changed rating: RED
Surfactant deficiency v0.8 CSF2RB Louise Daugherty commented on gene: CSF2RB: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red
Surfactant deficiency v0.8 SFTPD Louise Daugherty edited their review of gene: SFTPD: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel; Changed rating: RED
Pulmonary arterial hypertension v1.44 SOX17 Louise Daugherty commented on gene: SOX17: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 it was agreed there is enough evidence to rate this gene Green
Pulmonary arterial hypertension v1.44 TBX4 Louise Daugherty commented on gene: TBX4: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019it was agreed there is enough evidence to rate this gene Green
Pulmonary arterial hypertension v1.44 GDF2 Louise Daugherty commented on gene: GDF2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 agreed there is enough evidence to rate this gene Green
Likely inborn error of metabolism v1.36 COX15 Eleanor Williams Phenotypes for gene: COX15 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Mitochondrial disorders v1.89 COX15 Eleanor Williams Phenotypes for gene: COX15 were changed from Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Pulmonary arterial hypertension v1.44 ATP13A3 Louise Daugherty Added comment: Comment on mode of inheritance: changed back MOI until confirmation
Pulmonary arterial hypertension v1.44 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v1.43 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v1.42 CAV1 Louise Daugherty commented on gene: CAV1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : agreed that LCCNS unlikely to present as non-syndromic PPHT so should remain amber
Pulmonary arterial hypertension v1.42 ATP13A3 Louise Daugherty Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG2 Louise Daugherty commented on gene: RAG2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RAG1 Louise Daugherty commented on gene: RAG1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 PIK3R1 Louise Daugherty commented on gene: PIK3R1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green. Ian Berry to check with Sinisa Savic and Daniel Peckham re. phenotype
Respiratory ciliopathies including non-CF bronchiectasis v0.138 NFKB2 Louise Daugherty commented on gene: NFKB2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 NFKB1 Louise Daugherty commented on gene: NFKB1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 PIK3CD Louise Daugherty commented on gene: PIK3CD: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there enough evidence to rate this gene Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 RPGR Louise Daugherty commented on gene: RPGR: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019; Agreed to keep Amber, not enough evidence to upgrade to Green
Respiratory ciliopathies including non-CF bronchiectasis v0.138 STK36 Louise Daugherty Mode of inheritance for gene: STK36 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.137 STK36 Louise Daugherty edited their review of gene: STK36: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber. Only 1 case PMID:28543983; Changed rating: AMBER
Respiratory ciliopathies including non-CF bronchiectasis v0.137 CENPF Louise Daugherty edited their review of gene: CENPF: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it as decided to downgrade this gene from Green to Red, there is no further evidence since 2015 publication; Changed rating: RED
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH8 Louise Daugherty edited their review of gene: DNAH8: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber not enough published cases or other evidence to remain Green; Changed rating: AMBER
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH9 Louise Daugherty edited their review of gene: DNAH9: Changed rating: GREEN
Respiratory ciliopathies including non-CF bronchiectasis v0.137 DNAH9 Louise Daugherty Mode of inheritance for gene: DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.21 DNAH9 Louise Daugherty Added comment: Comment on publications: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green. 4 cases from 3 families & functional data.
Laterality disorders and isomerism v0.21 DNAH9 Louise Daugherty Publications for gene: DNAH9 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.136 DNAH9 Louise Daugherty Added comment: Comment on publications: Added publication to support gene-disease association and rating of this gene to Green.
Respiratory ciliopathies including non-CF bronchiectasis v0.136 DNAH9 Louise Daugherty Publications for gene: DNAH9 were set to
Laterality disorders and isomerism v0.20 TTC25 Louise Daugherty commented on gene: TTC25: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : there are unpublished cases and functional evidence to support this gene to be rated as Green.
Laterality disorders and isomerism v0.20 PKD1L1 Louise Daugherty edited their review of gene: PKD1L1: Changed rating: AMBER
Laterality disorders and isomerism v0.20 PKD1L1 Louise Daugherty commented on gene: PKD1L1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Ian Berry to add supporting publications/MOI/Phenotype and confirm Amber or Green rating.
Laterality disorders and isomerism v0.20 RSPH4A Louise Daugherty edited their review of gene: RSPH4A: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH9 Louise Daugherty edited their review of gene: RSPH9: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH3 Louise Daugherty edited their review of gene: RSPH3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 RSPH1 Louise Daugherty edited their review of gene: RSPH1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 GAS8 Louise Daugherty edited their review of gene: GAS8: Changed rating: RED
Laterality disorders and isomerism v0.20 GAS8 Louise Daugherty commented on gene: GAS8: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.20 DRC1 Louise Daugherty edited their review of gene: DRC1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 CCNO Louise Daugherty edited their review of gene: CCNO: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: RED
Laterality disorders and isomerism v0.20 CCDC65 Louise Daugherty edited their review of gene: CCDC65: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; Changed rating: AMBER
Laterality disorders and isomerism v0.20 HYDIN Louise Daugherty edited their review of gene: HYDIN: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO ,DRC1, GAF8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green.; Changed rating: RED
Laterality disorders and isomerism v0.20 DNAJB13 Louise Daugherty edited their review of gene: DNAJB13: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13,HYDIN,CCDC65,CCNO,DRC1,GAF8,RSPH1,RSPH3,RSPH9,RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel.Hannah Mitchison to follow up with reference/confirm gens that should be downgraded to Red from Green; Changed rating: RED
Laterality disorders and isomerism v0.20 C11orf70 Louise Daugherty commented on gene: C11orf70: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 Hannah Mitchison will add publications to support Green rating. Also need to add MOI and Phenotype to indicate relevance to inclusion.
Laterality disorders and isomerism v0.20 LRRC56 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes
Laterality disorders and isomerism v0.20 LRRC56 Louise Daugherty Phenotypes for gene: LRRC56 were changed from to Ciliary dyskinesia, primary, 39, 618254; Mucociliary Clearance and Laterality Defe
Intestinal failure or congenital diarrhoea v0.10 STX3 Miranda Durkie reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534; Phenotypes: Microvillus inclusion disease, congenital diarrheal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.19 LRRC56 Louise Daugherty Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.18 CRELD1 Louise Daugherty Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty edited their review of gene: CRELD1: Changed rating: AMBER
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Classified gene: CRELD1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Added comment: Comment on list classification: Changed to Amber until further evidence supplied from Ian Berry ( GMS Respiratory Specialist Test Group webex call 18th Jan 2019)
Laterality disorders and isomerism v0.17 CRELD1 Louise Daugherty Gene: creld1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.16 CRELD1 Louise Daugherty Mode of inheritance for gene: CRELD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v0.15 CRELD1 Louise Daugherty Publications for gene: CRELD1 were set to
Laterality disorders and isomerism v0.14 CRELD1 Louise Daugherty commented on gene: CRELD1: Review from Helen Brittain (Genomics England Curator) on the Familial non syndromic congenital heart disease panel 4 Jul 2017. Panel version: 1.8. Rating Amber. Comment on list classification: watchlist. 3/50 with AVSD found to have mutations, two isolated partial AVSD and one with heterotaxy. However it has also been postulated as a susceptibility locus. Further evidence of the role in AVSD is needed therefore considered amber. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes :
Atrioventricular septal defect, partial, with heterotaxy syndrome, 2; Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2. Publictions: 12632326
DDG2P v0.50 SMARCB1 Rebecca Foulger commented on gene: SMARCB1: MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic.
DDG2P v0.50 HECW2 Rebecca Foulger commented on gene: HECW2: Curated DDG2P update on Jan 21st 2019: Changed phenotype from 'HECW2' to 'Neurodevelopmental disorder with hypotonia, seizures, and absent language'. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame.
DDG2P v0.50 HECW2 Rebecca Foulger Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language
Pneumothorax - familial v1.15 SMAD2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype as suggested by clinical team
Pneumothorax - familial v1.15 SMAD2 Louise Daugherty Phenotypes for gene: SMAD2 were changed from to Loeys-Dietz syndrome
Pneumothorax - familial v1.14 SMAD2 Louise Daugherty Added comment: Comment on publications: Added publications suggested by expert clinical review that support Loeys-Dietz syndrome; pneumothorax a common feature.
Pneumothorax - familial v1.14 SMAD2 Louise Daugherty Publications for gene: SMAD2 were set to
Pneumothorax - familial v1.13 SMAD2 Louise Daugherty Mode of pathogenicity for gene: SMAD2 was changed from to Other
Pneumothorax - familial v1.12 SMAD2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
Pneumothorax - familial v1.12 SMAD2 Louise Daugherty Mode of inheritance for gene: SMAD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Classified gene: SMAD2 as Amber List (moderate evidence)
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Added comment: Comment on list classification: changed to Amber from Red - awaiting confirmation from GMS Respiratory Specialist Test Group- is pneumothorax part of the phenotype for LDS caused by variants in SMAD2
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Gene: smad2 has been classified as Amber List (Moderate Evidence).
Hereditary haemorrhagic telangiectasia v1.41 ENG Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by expert reviewer
Hereditary haemorrhagic telangiectasia v1.41 ENG Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Pulmonary arteriovenous malformation (HP:0006548); Hepatic arteriovenous malformation (HP:0006574; ); Spinal arteriovenous malformation (HP:0002390)
Hereditary haemorrhagic telangiectasia v1.40 ENG Louise Daugherty Added comment: Comment on publications: Added publications suggested by Ian Berry ( GMS Respiratory Specialist Test Group ) that support gene-disease association and rating of this gene to Green.
Hereditary haemorrhagic telangiectasia v1.40 ENG Louise Daugherty Publications for gene: ENG were set to 7894484; 16155196; 14684682
Hereditary haemorrhagic telangiectasia v1.39 BMPR2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIM
Hereditary haemorrhagic telangiectasia v1.39 BMPR2 Louise Daugherty Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Hereditary haemorrhagic telangiectasia v1.38 BMPR2 Louise Daugherty Mode of inheritance for gene: BMPR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Louise Daugherty edited their review of gene: BMPR2: Changed rating: AMBER
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Louise Daugherty commented on gene: BMPR2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : downgraded from Green to Amber (ref: PMID:18792970)
DDG2P v0.49 DNMT3A Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism
Hereditary haemorrhagic telangiectasia v1.37 GDF2 Louise Daugherty edited their review of gene: GDF2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : classified amber on basis of 3 cases (see review); Changed rating: AMBER
Pneumothorax - familial v1.10 TSC2 Louise Daugherty commented on gene: TSC2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosis.
Pneumothorax - familial v1.10 TSC1 Louise Daugherty commented on gene: TSC1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosis
Pneumothorax - familial v1.10 SERPINA1 Louise Daugherty commented on gene: SERPINA1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- suggest do not report carrier status.
Pneumothorax - familial v1.10 COL5A1 Louise Daugherty edited their review of gene: COL5A1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Classical EDS – does this need to be on this panel as well as EDS panel (R101 Ehlers Danlos syndrome with a likely monogenic cause) or would it be more likely that patients with an EDS phenotype would be tested under that indication – Specialist group to contact Glenda Sobie for her opinion.; Changed rating: AMBER
Pneumothorax - familial v1.10 SMAD2 Louise Daugherty edited their review of gene: SMAD2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm this; Changed rating: AMBER
Pneumothorax - familial v1.10 SMAD3 Louise Daugherty edited their review of gene: SMAD3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm this; Changed rating: AMBER
Early onset or syndromic epilepsy v1.13 DHPS Konstantinos Varvagiannis gene: DHPS was added
gene: DHPS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 21389784; 21850436
Phenotypes for gene: DHPS were set to Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; EEG abnormality; Behavioral abnormality; Abnormality of head or neck
Penetrance for gene: DHPS were set to Complete
Review for gene: DHPS was set to GREEN
Added comment: Ganapathi et al. (doi.org/10.1016/j.ajhg.2018.12.017 - PMID : NA) report on 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS.

The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.

Several other disorders had been ruled prior to the diagnosis, in all cases by exome sequencing.

All individuals harbored a specific missense variant (c.518A>G or p.Asn173Ser) in trans with various other variants incl. a splice site mutation (c.1014+1G>A), an in-frame deletion of 2 amino acids (c.912_917delTTACAT or p.Tyr305_Ile306del) or a variant abolishing the translation initiation codon (c.1A>G or p.Met1?) [All variants using NM_001930.3 as a reference].

Deoxyhypusine synthase (encoded by DHPS) is an enzyme participating in the first step of hypusine synthesis, an amino-acid which is specific to eukaryotic initiation factor 5A (eIF5A) and its homolog (eIF5A2).

eIF5A, its hypusinated form and DHPS have all been previously implicated in cellular proliferation/differentiation. eIF5A has also been proposed to be a mRNA translation elongation factor. A role of eIF5A in neuronal growth and survival has been proposed previously (all ref. in present article).

Neither eIF5A, nor DHPS or DOHH (an enzyme required for the second step of hypusination) have been associated to any disorders previously. Mutations in genes encoding other eukaryotic elongator factors (eg. EEF1A2, EEF2) have been associated with neurodevelopmental disorders.

Concerning the DHPS variants reported:

cDNA studies suggested that the c.1014+1G>A variant is translated but results in aberrant splicing and truncation of the protein before its active site.

The in-frame deletion as well as the missense variant were shown to have absent or partial (20%) enzyme activity in vitro respectively compared to wild-type (following expression in E.coli BL21(DE3) cells).

In line with this, reduced hypusination of eIF5A was observed for these 2 variants when compared to wild-type DHPS, upon co-transfection of constructs overexpressing DHPS (wt or mut.) and eIF5A in HEK293T cells.

Absence of homozygous DHPS LoF variants in population databases might suggest that complete deficiency is incompatible with normal embryonic development. Mice heterozygous for Dhps deletion do not demonstrate severe phenotypes, though homozygosity is embryonically lethal (PMIDs: 21389784, 21850436).
---------
DHPS is not associated with any phenotype in G2P, nor in OMIM.
---------
As a result, DHPS can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.597 DHPS Konstantinos Varvagiannis gene: DHPS was added
gene: DHPS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 21389784; 21850436
Phenotypes for gene: DHPS were set to Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; EEG abnormality; Behavioral abnormality; Abnormality of head or neck
Penetrance for gene: DHPS were set to Complete
Review for gene: DHPS was set to GREEN
Added comment: Ganapathi et al. (doi.org/10.1016/j.ajhg.2018.12.017 - PMID : NA) report on 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS.

The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.

Several other disorders had been ruled prior to the diagnosis, in all cases by exome sequencing.

All individuals harbored a specific missense variant (c.518A>G or p.Asn173Ser) in trans with various other variants incl. a splice site mutation (c.1014+1G>A), an in-frame deletion of 2 amino acids (c.912_917delTTACAT or p.Tyr305_Ile306del) or a variant abolishing the translation initiation codon (c.1A>G or p.Met1?) [All variants using NM_001930.3 as a reference].

Deoxyhypusine synthase (encoded by DHPS) is an enzyme participating in the first step of hypusine synthesis, an amino-acid which is specific to eukaryotic initiation factor 5A (eIF5A) and its homolog (eIF5A2).

eIF5A, its hypusinated form and DHPS have all been previously implicated in cellular proliferation/differentiation. eIF5A has also been proposed to be a mRNA translation elongation factor. A role of eIF5A in neuronal growth and survival has been proposed previously (all ref. in present article).

Neither eIF5A, nor DHPS or DOHH (an enzyme required for the second step of hypusination) have been associated to any disorders previously. Mutations in genes encoding other eukaryotic elongator factors (eg. EEF1A2, EEF2) have been associated with neurodevelopmental disorders.

Concerning the DHPS variants reported:

cDNA studies suggested that the c.1014+1G>A variant is translated but results in aberrant splicing and truncation of the protein before its active site.

The in-frame deletion as well as the missense variant were shown to have absent or partial (20%) enzyme activity in vitro respectively compared to wild-type (following expression in E.coli BL21(DE3) cells).

In line with this, reduced hypusination of eIF5A was observed for these 2 variants when compared to wild-type DHPS, upon co-transfection of constructs overexpressing DHPS (wt or mut.) and eIF5A in HEK293T cells.

Absence of homozygous DHPS LoF variants in population databases might suggest that complete deficiency is incompatible with normal embryonic development. Mice heterozygous for Dhps deletion do not demonstrate severe phenotypes, though homozygosity is embryonically lethal (PMIDs: 21389784, 21850436).
---------
DHPS is not associated with any phenotype in G2P, nor in OMIM.
This gene is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories.
---------
As a result, DHPS can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Classified gene: NKX2-1 as Green List (high evidence)
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Added comment: Comment on list classification: Discussed with respiratory specialist test group on 18/01/19. Could present with respiratory distress secondary to hypothyroidism before other syndromic features are recognised, therefore appropriate for inclusion on this panel.
Surfactant deficiency v0.8 NKX2-1 Anna de Burca Gene: nkx2-1 has been classified as Green List (High Evidence).
Surfactant deficiency v0.7 CSF2RB Anna de Burca Classified gene: CSF2RB as Red List (low evidence)
Surfactant deficiency v0.7 CSF2RB Anna de Burca Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.
Surfactant deficiency v0.7 CSF2RB Anna de Burca Gene: csf2rb has been classified as Red List (Low Evidence).
Surfactant deficiency v0.6 TERT Anna de Burca Classified gene: TERT as Red List (low evidence)
Surfactant deficiency v0.6 TERT Anna de Burca Added comment: Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.
Surfactant deficiency v0.6 TERT Anna de Burca Gene: tert has been classified as Red List (Low Evidence).
Surfactant deficiency v0.5 SFTPD Anna de Burca Classified gene: SFTPD as Red List (low evidence)
Surfactant deficiency v0.5 SFTPD Anna de Burca Added comment: Comment on list classification: No reported mutations in humans.
Surfactant deficiency v0.5 SFTPD Anna de Burca Gene: sftpd has been classified as Red List (Low Evidence).
Pulmonary arterial hypertension v1.41 ATP13A3 Anna de Burca reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Marked gene: DNAH9 as ready
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Classified gene: DNAH9 as Green List (high evidence)
Laterality disorders and isomerism v0.14 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Laterality disorders and isomerism v0.13 DNAH9 Anna de Burca gene: DNAH9 was added
gene: DNAH9 was added to Laterality disorders and isomerism. Sources: Expert Review
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH9 were set to Primary ciliary dyskinesia
Review for gene: DNAH9 was set to GREEN
Added comment: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
https://www.sciencedirect.com/science/article/pii/S0002929718303689
reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function. All affected individuals had situs inversus.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.135 DNAH9 Anna de Burca Phenotypes for gene: DNAH9 were changed from Primary c to Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis v0.134 DNAH9 Anna de Burca Phenotypes for gene: DNAH9 were changed from to Primary c
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Classified gene: DNAH9 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Added comment: Comment on list classification: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
https://www.sciencedirect.com/science/article/pii/S0002929718303689
reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function.
Respiratory ciliopathies including non-CF bronchiectasis v0.133 DNAH9 Anna de Burca Gene: dnah9 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.132 NME8 Anna de Burca Classified gene: NME8 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.132 NME8 Anna de Burca Gene: nme8 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.131 NME8 Anna de Burca reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.131 STK36 Anna de Burca Classified gene: STK36 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.131 STK36 Anna de Burca Gene: stk36 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.130 STK36 Anna de Burca reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28543983; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Classified gene: CENPF as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Added comment: Comment on list classification: No further evidence since review by Ian Berry in 2015.
Respiratory ciliopathies including non-CF bronchiectasis v0.130 CENPF Anna de Burca Gene: cenpf has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Tag watchlist tag was added to gene: DNAH8.
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Classified gene: DNAH8 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Added comment: Comment on list classification: One published case and additional unpublished cases. To remain amber at present pending further evidence.
Respiratory ciliopathies including non-CF bronchiectasis v0.129 DNAH8 Anna de Burca Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.128 DNAH8 Anna de Burca reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial cerebral small vessel disease v1.6 FOXF2 Louise Daugherty gene: FOXF2 was added
gene: FOXF2 was added to Familial cerebral small vessel disease. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXF2 were set to 27068588
Phenotypes for gene: FOXF2 were set to Small vessel stroke
Review for gene: FOXF2 was set to RED
Added comment: Sources: Literature
Intellectual disability v2.597 SOX4 Konstantinos Varvagiannis gene: SOX4 was added
gene: SOX4 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX4 were set to Global developmental delay; Intellectual disability; Growth delay; Clinodactyly of the 5th finger; Abnormality of head or neck
Penetrance for gene: SOX4 were set to unknown
Review for gene: SOX4 was set to GREEN
Added comment: Zawerton et al. (DDD study among the co-authors - doi.org/10.1016/j.ajhg.2018.12.014 - PMID:NA) report on 4 unrelated individuals with de novo SOX4 pathogenic variants. The common phenotype consisted of DD/ID (4/4 - very mild to severe), overlapping facial features as well as digital anomalies (5th finger clinodactyly in 4/4).

SOX4 is a member of the SOX family of transcription factors, all presenting at least 50% identity with SRY (the first identified member of this family) in the HMG (DNA-binding) domain. Most SOX genes have important roles in cell fate / differentiation. Mutations in other genes of this family (eg. SRY, SOX9, SOX10, SOX5) are associated with severe human syndromes.

SOX4 is highly expressed in human brain during gestation - particularly in areas of active neurogenesis - with progressive decrease thereafter until the 3rd - 4th decade of life.

Knockdown of the SOX4 ortholog in Xenopus laevis embryos resulted in smaller head size, microphthalmia, shorter body length and underdevelopment of fore- and mid-brain. (Growth deficiency was a common feature in affected individuals, and microcephaly in 2/4).

Sox4-null mice die in utero due to heart septation defects, while such abnormalities were not reported in heterozygous mice. One affected subject had a VSD. Sox4 inactivation in mice results in impaired skeletal growth (similarly to the patients).

All 4 different missense variants clustered in the HMG domain (aa 58-133) which appears relatively (more) depleted in missense variants (only 12 missense HMG-domain variants in gnomAD). [Overall the Z-score for missense variants is 3.72. pLI = 0.38. %HI in DECIPHER : 24.67%].

The 4 missense variants presented impaired DNA binding and transcription activation in COS-1 transfected cells which appeared to distinguish them from the 12 gnomAD ones. Synthesis, stability and nuclear translocation appeared to be similar to wt.

Other parameters eg. residue conservation in the SOX family, presence of "equivalent" known disease causing mutations in other SOX genes or in silico analyses suggesting structural consequences were supportive of a deleterious effect for the 4 variants (but also for some of the 12 gnomAD ones).

SOX4 and SOX11 have almost identical DNA-binding domains, while the mechanism of mutations reported and the phenotypes appear to be relatively similar, as commented by the authors.
--------------
SOX4 is not associated with any phenotype in G2P, nor in OMIM.
This gene is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories.
--------------
As a result SOX4 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.597 SLC1A2 Louise Daugherty Added comment: Comment on phenotypes: amended formatting of MIM phenotype
Intellectual disability v2.597 SLC1A2 Louise Daugherty Phenotypes for gene: SLC1A2 were changed from Epileptic encephalopathy, early infantile, 41 (MIM 617105) to Epileptic encephalopathy, early infantile, 41, 617105
Intellectual disability v2.596 PPP1R21 Louise Daugherty Deleted their comment
Intellectual disability v2.596 PPP1R21 Louise Daugherty commented on gene: PPP1R21: this is a test comment
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Classified gene: PKD1L1 as Amber List (moderate evidence)
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Added comment: Comment on list classification: Rated as amber following discussion with NHS GMS respiratory specialist test group 18/01/19.
Laterality disorders and isomerism v0.12 PKD1L1 Anna de Burca Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v0.11 NME8 Anna de Burca Classified gene: NME8 as Red List (low evidence)
Laterality disorders and isomerism v0.11 NME8 Anna de Burca Gene: nme8 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v0.10 NME8 Anna de Burca reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID:17360648; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v0.10 LRRC56 Anna de Burca reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30388400; Phenotypes: Mucociliary Clearance and Laterality Defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary haemorrhagic telangiectasia v1.37 ACVRL1 Anna de Burca reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244195; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Anna de Burca Classified gene: BMPR2 as Amber List (moderate evidence)
Hereditary haemorrhagic telangiectasia v1.37 BMPR2 Anna de Burca Gene: bmpr2 has been classified as Amber List (Moderate Evidence).
Hereditary haemorrhagic telangiectasia v1.36 BMPR2 Anna de Burca reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID:18792970; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary haemorrhagic telangiectasia v1.36 ENG Ian Berry reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v1.10 SMAD2 Helen Brittain reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29707331, 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary haemorrhagic telangiectasia v1.36 BMPR2 Louise Daugherty Publications for gene: BMPR2 were set to
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic right ventricular cardiomyopathy v1.14 FLNC Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts.; Changed mode of pathogenicity: Other
Arrhythmogenic right ventricular cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic right ventricular cardiomyopathy v1.14 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Arrhythmogenic right ventricular cardiomyopathy v1.13 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.13 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review. For discussion with the NHSE GMS cardiology specialist group.
Arrhythmogenic right ventricular cardiomyopathy v1.13 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic right ventricular cardiomyopathy v1.12 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts. ; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.12 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.12 PLN Oxford Medical Genetics Laboratory commented on gene: PLN: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.
Arrhythmogenic right ventricular cardiomyopathy v1.11 PLN Ellen McDonagh Tag founder-effect tag was added to gene: PLN.
Arrhythmogenic right ventricular cardiomyopathy v1.11 PLN Ellen McDonagh Publications for gene: PLN were set to
Arrhythmogenic right ventricular cardiomyopathy v1.10 FLNC Oxford Medical Genetics Laboratory reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic right ventricular cardiomyopathy v1.10 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.10 PLN Oxford Medical Genetics Laboratory edited their review of gene: PLN: Added comment: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.; Changed publications: Publications supporting role of Arg14del founder varaint in ARVC - PMID: 22820313, PMID: 28102477; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.9 FLNC Ellen McDonagh gene: FLNC was added
gene: FLNC was added to Arrhythmogenic cardiomyopathy. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLNC was set to
Arrhythmogenic right ventricular cardiomyopathy v1.9 RYR2 Ellen McDonagh Source Wessex and West Midlands GLH was added to RYR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.9 PLN Ellen McDonagh Source Wessex and West Midlands GLH was added to PLN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v1.4 CASR Miranda Durkie reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16497624, 26166472; Phenotypes: Pancreatitis; Mode of inheritance: Other
Dilated Cardiomyopathy and conduction defects v1.42 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review, to raise for discussion with the NHSE GMS Cardiology specialist group.
Dilated Cardiomyopathy and conduction defects v1.41 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.40 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Originally given red rating. Now evidence from the literature and our cohort that truncating variants in this gene cause DCM.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in DCM PMID: 29551499 , PMID: 28008423; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dilated Cardiomyopathy and conduction defects v1.40 TFR2 Oxford Medical Genetics Laboratory reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 SLC40A1 Oxford Medical Genetics Laboratory reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 SGCD Oxford Medical Genetics Laboratory commented on gene: SGCD: Not fully reviewed. Would be interested to hear findings of Manchester laboratory testing this gene in DCM cohorts.
Dilated Cardiomyopathy and conduction defects v1.40 RAB3GAP2 Oxford Medical Genetics Laboratory reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 PPP1R13L Oxford Medical Genetics Laboratory reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 IDH2 Oxford Medical Genetics Laboratory reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 HFE2 Oxford Medical Genetics Laboratory reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 HFE Oxford Medical Genetics Laboratory edited their review of gene: HFE: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 HAMP Oxford Medical Genetics Laboratory reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 FKTN Oxford Medical Genetics Laboratory edited their review of gene: FKTN: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 EYA4 Oxford Medical Genetics Laboratory edited their review of gene: EYA4: Added comment: Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.40 EPG5 Oxford Medical Genetics Laboratory reviewed gene: EPG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated Cardiomyopathy and conduction defects v1.40 ABCC9 Oxford Medical Genetics Laboratory edited their review of gene: ABCC9: Added comment: Cantu syndrome. No evidence for a roel in Pirmary AD DCM.; Changed rating: RED
Dilated Cardiomyopathy and conduction defects v1.39 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.
Dilated Cardiomyopathy and conduction defects v1.39 TFR2 Ellen McDonagh Source Wessex and West Midlands GLH was added to TFR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 SLC40A1 Ellen McDonagh Source Wessex and West Midlands GLH was added to SLC40A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 SGCD Ellen McDonagh Source Wessex and West Midlands GLH was added to SGCD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 RAB3GAP2 Ellen McDonagh Source Wessex and West Midlands GLH was added to RAB3GAP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 PPP1R13L Ellen McDonagh Source Wessex and West Midlands GLH was added to PPP1R13L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 IDH2 Ellen McDonagh Source Wessex and West Midlands GLH was added to IDH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HFE2 Ellen McDonagh Source Wessex and West Midlands GLH was added to HFE2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HFE Ellen McDonagh Source Wessex and West Midlands GLH was added to HFE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 HAMP Ellen McDonagh Source Wessex and West Midlands GLH was added to HAMP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 FKTN Ellen McDonagh Source Wessex and West Midlands GLH was added to FKTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 EYA4 Ellen McDonagh Source Wessex and West Midlands GLH was added to EYA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 EPG5 Ellen McDonagh Source Wessex and West Midlands GLH was added to EPG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.39 ABCC9 Ellen McDonagh Source Wessex and West Midlands GLH was added to ABCC9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.37 TNNC1 Oxford Medical Genetics Laboratory edited their review of gene: TNNC1: Changed rating: GREEN
Hypertrophic cardiomyopathy v1.37 CSRP3 Oxford Medical Genetics Laboratory edited their review of gene: CSRP3: Changed rating: GREEN
Hypertrophic cardiomyopathy v1.36 MT-TI Ellen McDonagh Publications for gene: MT-TI were set to
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Added comment: Comment on list classification: New gene added to this panel after submission from the Oxford Medical Genetics Laboratory. Promoted from Red to Amber due to this new review and to raise in discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Classified gene: TTR as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review and discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Gene: ttr has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.33 TTR Ellen McDonagh Publications for gene: TTR were set to
Hypertrophic cardiomyopathy v1.32 ACTN2 Ellen McDonagh Publications for gene: ACTN2 were set to
Hypertrophic cardiomyopathy v1.31 MYH6 Ellen McDonagh Publications for gene: MYH6 were set to
Hypertrophic cardiomyopathy v1.30 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Amber for discussion with the NHS GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.28 MT-TI Oxford Medical Genetics Laboratory reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: Publications supporting role of this gene in HCM - PMID: 12767666, PMID: 30025578 ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.28 TTR Oxford Medical Genetics Laboratory edited their review of gene: TTR: Added comment: pathogenic variants in this gene cause Hereditary TTR amyloidosis. Affected individuals can present with left ventricular hypertrophy (LVH) that can mimic HCM. Recent study (PMID:28475415) found pathogenic varaint in this gene in 0.6% individuals in HCM cohort (n=697); Changed rating: GREEN; Changed publications: Publications supporting role of this gene in HCM - PMID: 28475415, PMID:16115295, PMID:16194874, PMID:26537620, PMID:1626570, PMID:1570831; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Amber gene. For discussion. High background rate of missense variants in reference popualtions in this gene; therefore rare missense variants detected in patients are .are generally uninterpretable and classified as VUS. Heterozygous LOF variants well-established and quite frequent in DCM however we have also found putative LOF variants in HCM patients although these are rare. Another gene where we need more data... ; Changed rating: AMBER; Changed publications: Publications supporting role of this gene in HCM - PMID:25351925, PMID:28356264, Publications questioning role of this gene in HCM - PMID:30411535; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 ACTN2 Oxford Medical Genetics Laboratory edited their review of gene: ACTN2: Added comment: Amber gene. For discussion. A very small number of missense variant (n=2) have been show to segreate with atypical cardiac phenotypes-not specifically HCM. ClinGen have labelled this an intrinsic cardiomyoapthy gene. Missense variants (other than the 2 reported in the literature with segregation) are generally uninterpretable and so classified as VUS. In previous case vs control analyses (Walsh et al PMID -27532257) we did not detect a burden of rare missense variants in this gene in cases (HCM or DCM) compared to reference cohorts. However we have emerging evidence from our cohort that heterozygous LOF(including large scale deletions and duplications) variants in this gene may be pathogenic. At present not a Green gene but perhaps worthy of further investigation.; Changed rating: AMBER; Changed publications: Publications supporting role of this gene in HCM - [PMID: 25224718, PMID: 25173926, PMID: 20022194 ; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 MYH6 Oxford Medical Genetics Laboratory edited their review of gene: MYH6: Added comment: There is no robust evidence to support variants in this gene causing HCM. This gene should not be included in clinical HCM panels.; Changed publications: Publications questioning role of this gene in HCM - PMID: 30531895, PMID: 28082330; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Hypertrophic cardiomyopathy v1.27 TTR Ellen McDonagh Source Wessex and West Midlands GLH was added to TTR.
Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.
Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 ACTN2 Ellen McDonagh Source Wessex and West Midlands GLH was added to ACTN2.
Hypertrophic cardiomyopathy v1.27 MYH6 Ellen McDonagh Source Wessex and West Midlands GLH was added to MYH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.41 ATP13A3 Louise Daugherty edited their review of gene: ATP13A3: Changed rating: GREEN
Pulmonary arterial hypertension v1.41 CAV1 Louise Daugherty edited their review of gene: CAV1: Changed rating: AMBER
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Classified gene: TBL1X as Green List (high evidence)
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on new evidence provided by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Congenital hypothyroidism v1.18 TBL1X Ivone Leong Gene: tbl1x has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and Anna de Burca (Genomics England Curator).
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Classified gene: FGFR1 as Red List (low evidence)
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Added comment: Comment on list classification: Demoted from green to red as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Hypophosphataemia or rickets v0.31 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.88 BCS1L Eleanor Williams Phenotypes for gene: BCS1L were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency
Undiagnosed metabolic disorders v1.85 BCS1L Eleanor Williams Phenotypes for gene: BCS1L were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency
Likely inborn error of metabolism v1.35 BCS1L Eleanor Williams Phenotypes for gene: BCS1L were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358 to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358
Differences in sex development v1.31 AMHR2 Ivone Leong Classified gene: AMHR2 as Green List (high evidence)
Differences in sex development v1.31 AMHR2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMHR2 who have Persistent Mullerian duct syndrome, type II (PMID: 28528332).
Differences in sex development v1.31 AMHR2 Ivone Leong Gene: amhr2 has been classified as Green List (High Evidence).
Differences in sex development v1.30 AMH Ivone Leong Deleted their comment
Differences in sex development v1.30 AMH Ivone Leong Classified gene: AMH as Green List (high evidence)
Differences in sex development v1.30 AMH Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMH who have Persistent Mullerian duct syndrome, type I (PMID: 28528332).
Differences in sex development v1.30 AMH Ivone Leong Gene: amh has been classified as Green List (High Evidence).
Differences in sex development v1.29 AMH Ivone Leong Classified gene: AMH as Green List (high evidence)
Differences in sex development v1.29 AMH Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMH who have Persistent Mullerian duct syndrome, type I (PMID: 28528332).
Differences in sex development v1.29 AMH Ivone Leong Gene: amh has been classified as Green List (High Evidence).
Laterality disorders and isomerism v0.10 MMP21 Louise Daugherty Publications for gene: MMP21 were set to
Laterality disorders and isomerism v0.9 MMP21 Louise Daugherty commented on gene: MMP21: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator).Green List (high evidence). Comment when marking as ready: Sufficient evidence for causation of heterotaxy phenotype. Sufficient cases (9 in listed PMID) of heterotaxy / cardiac laterality defects. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Heterotaxy,visceral,7,autosomal, 616749. Publications 26437028.
Laterality disorders and isomerism v0.9 CFC1 Louise Daugherty Publications for gene: CFC1 were set to
Laterality disorders and isomerism v0.8 CFC1 Louise Daugherty edited their review of gene: CFC1: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient evidence in relation to heterotaxy phenotype. Therefore promoted to green. Three (/?four) unrelated laterality cases with two LOF mutations in listed PMID. Considered sufficient cases for inclusion. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy, visceral, 2, autosomal, 605376; Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal. Publications: 11062482.; Changed publications: 11062482
Laterality disorders and isomerism v0.8 CFAP53 Louise Daugherty Publications for gene: CFAP53 were set to
Laterality disorders and isomerism v0.7 CFAP53 Louise Daugherty commented on gene: CFAP53: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype. 4 separate families identified in the three PMIDs with laterality defects (one was an inferred exon 3 deletion) plus evidence of role in motile ciliary organ in zebrafish as supporting evidence. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal. Publications: 26531781, 22577226, 25504577
Respiratory ciliopathies including non-CF bronchiectasis v0.128 Louise Daugherty removed gene:RPGRIP1L from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.127 Louise Daugherty removed gene:RPGRIP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.126 Louise Daugherty removed gene:RPE65 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.125 Louise Daugherty removed gene:RDH12 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.124 Louise Daugherty removed gene:RD3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.123 Louise Daugherty removed gene:PKHD1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.122 Louise Daugherty removed gene:PKD2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.121 Louise Daugherty removed gene:PCDH15 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.120 Louise Daugherty removed gene:SDCCAG8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.119 Louise Daugherty removed gene:ZNF423 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.118 Louise Daugherty removed gene:ZIC3 from the panel
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Classified gene: DCAF17 as Green List (high evidence)
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and the evidence presented in her review.
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.117 Louise Daugherty removed gene:XPNPEP3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.116 Louise Daugherty removed gene:WHRN from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.115 Louise Daugherty removed gene:WDR35 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.114 Louise Daugherty removed gene:WDR19 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.113 Louise Daugherty removed gene:WDPCP from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.112 Louise Daugherty removed gene:VHL from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.111 Louise Daugherty removed gene:USH2A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.110 Louise Daugherty removed gene:USH1G from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.109 Louise Daugherty removed gene:USH1C from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.108 Louise Daugherty removed gene:UMOD from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.107 Louise Daugherty removed gene:TULP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.106 Louise Daugherty removed gene:TTC8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.105 Louise Daugherty removed gene:TTC21B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.104 Louise Daugherty removed gene:TSC2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.103 Louise Daugherty removed gene:TSC1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.102 Louise Daugherty removed gene:TRIM32 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.101 Louise Daugherty removed gene:TOPORS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.100 Louise Daugherty removed gene:TMEM67 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.99 Louise Daugherty removed gene:TMEM237 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.98 Louise Daugherty removed gene:TMEM231 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.97 Louise Daugherty removed gene:TMEM216 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.96 Louise Daugherty removed gene:TMEM138 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.95 Louise Daugherty removed gene:TCTN2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.94 Louise Daugherty removed gene:TCTN1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.93 Louise Daugherty removed gene:SPATA7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.92 Louise Daugherty removed gene:NPHP4 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.91 Louise Daugherty removed gene:NPHP3 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.90 Louise Daugherty removed gene:NPHP1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.89 Louise Daugherty removed gene:NODAL from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.88 Louise Daugherty removed gene:NEK8 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.87 Louise Daugherty removed gene:NKX2-5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.86 Louise Daugherty removed gene:NEK1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.85 Louise Daugherty removed gene:MYO7A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.84 Louise Daugherty removed gene:MKS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.83 Louise Daugherty removed gene:MKKS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.82 Louise Daugherty removed gene:LZTFL1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.81 Louise Daugherty removed gene:LRAT from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.80 Louise Daugherty removed gene:LEFTY2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.79 Louise Daugherty removed gene:LCA5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.78 Louise Daugherty removed gene:KIF7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.77 Louise Daugherty removed gene:KCNJ13 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.76 Louise Daugherty removed gene:IQCB1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.75 Louise Daugherty removed gene:INVS from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.74 Louise Daugherty removed gene:IMPDH1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.73 Louise Daugherty removed gene:IFT80 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.72 Louise Daugherty removed gene:HYLS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.71 Louise Daugherty removed gene:IFT43 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.70 Louise Daugherty removed gene:GUCY2D from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.69 Louise Daugherty removed gene:GLIS2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.68 Louise Daugherty removed gene:GDF1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.67 Louise Daugherty removed gene:FOXH1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.66 Louise Daugherty removed gene:EVC2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.65 Louise Daugherty removed gene:EVC from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.64 Louise Daugherty removed gene:DYNC2H1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.63 Louise Daugherty removed gene:CRX from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.62 Louise Daugherty removed gene:CRELD1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.61 Louise Daugherty removed gene:CRB1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.60 Louise Daugherty removed gene:CLRN1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.59 Louise Daugherty removed gene:CEP55 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.58 Louise Daugherty removed gene:CEP41 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.57 Louise Daugherty removed gene:CEP290 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.56 Louise Daugherty removed gene:CEP164 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.55 Louise Daugherty removed gene:CDH23 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.54 Louise Daugherty removed gene:CCDC28B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.53 Louise Daugherty removed gene:CC2D2A from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.52 Louise Daugherty removed gene:C5orf42 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.51 Louise Daugherty removed gene:C2orf71 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.50 Louise Daugherty removed gene:BBS9 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.49 Louise Daugherty removed gene:BBS7 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.48 Louise Daugherty removed gene:BBS4 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.47 Louise Daugherty removed gene:BBS5 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.46 Louise Daugherty removed gene:BBS12 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.45 Louise Daugherty removed gene:BBS2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.44 Louise Daugherty removed gene:BBS1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.43 Louise Daugherty removed gene:BBS10 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.42 Louise Daugherty removed gene:B9D2 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.41 Louise Daugherty removed gene:ARL6 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.40 Louise Daugherty removed gene:B9D1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.39 Louise Daugherty removed gene:AIPL1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.38 Louise Daugherty removed gene:ARL13B from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.37 Louise Daugherty removed gene:ADGRV1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.36 Louise Daugherty removed gene:AHI1 from the panel
Respiratory ciliopathies including non-CF bronchiectasis v0.35 Louise Daugherty removed gene:ACVR2B from the panel
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence)
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Congenital hypothyroidism v1.17 CDCA8 Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZNF423 Louise Daugherty gene: ZNF423 was added
gene: ZNF423 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ZNF423 was set to
Phenotypes for gene: ZNF423 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZMYND10 Louise Daugherty Mode of inheritance for gene ZMYND10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 22, 615444 for gene: ZMYND10
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ZIC3 Louise Daugherty gene: ZIC3 was added
gene: ZIC3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ZIC3 was set to
Phenotypes for gene: ZIC3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 XPNPEP3 Louise Daugherty gene: XPNPEP3 was added
gene: XPNPEP3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: XPNPEP3 was set to
Phenotypes for gene: XPNPEP3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WHRN Louise Daugherty gene: WHRN was added
gene: WHRN was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WHRN was set to
Phenotypes for gene: WHRN were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDR35 Louise Daugherty gene: WDR35 was added
gene: WDR35 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDR35 was set to
Phenotypes for gene: WDR35 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDR19 Louise Daugherty gene: WDR19 was added
gene: WDR19 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDR19 was set to
Phenotypes for gene: WDR19 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 WDPCP Louise Daugherty gene: WDPCP was added
gene: WDPCP was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: WDPCP was set to
Phenotypes for gene: WDPCP were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 VHL Louise Daugherty gene: VHL was added
gene: VHL was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: VHL was set to
Phenotypes for gene: VHL were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH2A Louise Daugherty gene: USH2A was added
gene: USH2A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH2A was set to
Phenotypes for gene: USH2A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH1G Louise Daugherty gene: USH1G was added
gene: USH1G was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH1G was set to
Phenotypes for gene: USH1G were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 USH1C Louise Daugherty gene: USH1C was added
gene: USH1C was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: USH1C was set to
Phenotypes for gene: USH1C were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 UMOD Louise Daugherty gene: UMOD was added
gene: UMOD was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: UMOD was set to
Phenotypes for gene: UMOD were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TULP1 Louise Daugherty gene: TULP1 was added
gene: TULP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TTC8 Louise Daugherty gene: TTC8 was added
gene: TTC8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TTC8 was set to
Phenotypes for gene: TTC8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TTC21B Louise Daugherty gene: TTC21B was added
gene: TTC21B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TTC21B was set to
Phenotypes for gene: TTC21B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TSC2 Louise Daugherty gene: TSC2 was added
gene: TSC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TSC2 was set to
Phenotypes for gene: TSC2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TSC1 Louise Daugherty gene: TSC1 was added
gene: TSC1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TSC1 was set to
Phenotypes for gene: TSC1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TRIM32 Louise Daugherty gene: TRIM32 was added
gene: TRIM32 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TOPORS Louise Daugherty gene: TOPORS was added
gene: TOPORS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM67 Louise Daugherty gene: TMEM67 was added
gene: TMEM67 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM67 was set to
Phenotypes for gene: TMEM67 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM237 Louise Daugherty gene: TMEM237 was added
gene: TMEM237 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM237 was set to
Phenotypes for gene: TMEM237 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM231 Louise Daugherty gene: TMEM231 was added
gene: TMEM231 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM231 was set to
Phenotypes for gene: TMEM231 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM216 Louise Daugherty gene: TMEM216 was added
gene: TMEM216 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM216 was set to
Phenotypes for gene: TMEM216 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TMEM138 Louise Daugherty gene: TMEM138 was added
gene: TMEM138 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TMEM138 was set to
Phenotypes for gene: TMEM138 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TCTN2 Louise Daugherty gene: TCTN2 was added
gene: TCTN2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TCTN2 was set to
Phenotypes for gene: TCTN2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 TCTN1 Louise Daugherty gene: TCTN1 was added
gene: TCTN1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: TCTN1 was set to
Phenotypes for gene: TCTN1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SPATA7 Louise Daugherty gene: SPATA7 was added
gene: SPATA7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SPAG1 Louise Daugherty Mode of inheritance for gene SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SDCCAG8 Louise Daugherty gene: SDCCAG8 was added
gene: SDCCAG8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: SDCCAG8 was set to
Phenotypes for gene: SDCCAG8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1G Louise Daugherty Mode of inheritance for gene SCNN1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bronchiectasis with or without elevated sweat chloride 3, 613071; Ciliopathies; Bronchiectasis; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1G
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1B Louise Daugherty Mode of inheritance for gene SCNN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Ciliopathies; Non-Classic Cystic Fibrosis-Like Syndrome; Pseudohypoaldosteronism, type I, 264350; Liddle syndrome, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Bronchiectasis for gene: SCNN1B
Respiratory ciliopathies including non-CF bronchiectasis v0.34 SCNN1A Louise Daugherty Mode of inheritance for gene SCNN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ciliopathies; Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1A
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH9 Louise Daugherty Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH4A Louise Daugherty Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes sinusitis; chronic wet cough; nasal symptoms; rhinorrhea; recurrent respiratory infections; Primary Ciliary Dyskinesia; rhinitis; Reduced exercise tolerance; otitis media; nasal blockage; Bronchiectasis; short stature; deafness; glue ear; low weight; hearing problems; Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH3 Louise Daugherty Mode of inheritance for gene RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RSPH1 Louise Daugherty Mode of inheritance for gene RSPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGRIP1L Louise Daugherty gene: RPGRIP1L was added
gene: RPGRIP1L was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPGRIP1L was set to
Phenotypes for gene: RPGRIP1L were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGRIP1 Louise Daugherty gene: RPGRIP1 was added
gene: RPGRIP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPGR Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Ciliopathies for gene: RPGR
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RPE65 Louise Daugherty gene: RPE65 was added
gene: RPE65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RDH12 Louise Daugherty gene: RDH12 was added
gene: RDH12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 RD3 Louise Daugherty gene: RD3 was added
gene: RD3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PKHD1 Louise Daugherty gene: PKHD1 was added
gene: PKHD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PKHD1 was set to
Phenotypes for gene: PKHD1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PKD2 Louise Daugherty gene: PKD2 was added
gene: PKD2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PKD2 was set to
Phenotypes for gene: PKD2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PIH1D3 Louise Daugherty Mode of inheritance for gene PIH1D3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes X-linked primary ciliary dyskinesia; X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects for gene: PIH1D3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 PCDH15 Louise Daugherty gene: PCDH15 was added
gene: PCDH15 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: PCDH15 was set to
Phenotypes for gene: PCDH15 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 OFD1 Louise Daugherty Added phenotypes Ciliopathies for gene: OFD1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP4 Louise Daugherty gene: NPHP4 was added
gene: NPHP4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP4 was set to
Phenotypes for gene: NPHP4 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP3 Louise Daugherty gene: NPHP3 was added
gene: NPHP3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP3 was set to
Phenotypes for gene: NPHP3 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NPHP1 Louise Daugherty gene: NPHP1 was added
gene: NPHP1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NPHP1 was set to
Phenotypes for gene: NPHP1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NODAL Louise Daugherty gene: NODAL was added
gene: NODAL was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NODAL was set to
Phenotypes for gene: NODAL were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NME8 Louise Daugherty Mode of inheritance for gene NME8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 6, 610852; Bronchiectasis for gene: NME8
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NKX2-5 Louise Daugherty gene: NKX2-5 was added
gene: NKX2-5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NKX2-5 was set to
Phenotypes for gene: NKX2-5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NEK8 Louise Daugherty gene: NEK8 was added
gene: NEK8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NEK8 was set to
Phenotypes for gene: NEK8 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 NEK1 Louise Daugherty gene: NEK1 was added
gene: NEK1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: NEK1 was set to
Phenotypes for gene: NEK1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MYO7A Louise Daugherty gene: MYO7A was added
gene: MYO7A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MYO7A was set to
Phenotypes for gene: MYO7A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MKS1 Louise Daugherty gene: MKS1 was added
gene: MKS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MKS1 was set to
Phenotypes for gene: MKS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MKKS Louise Daugherty gene: MKKS was added
gene: MKKS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: MKKS was set to
Phenotypes for gene: MKKS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 MCIDAS Louise Daugherty Mode of inheritance for gene MCIDAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LZTFL1 Louise Daugherty gene: LZTFL1 was added
gene: LZTFL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Visceral Heterotaxy; Bardet-Biedl Syndrome 17
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRRC6 Louise Daugherty Mode of inheritance for gene LRRC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 19, 614935; Primary Ciliary Dyskinesia for gene: LRRC6
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRRC56 Louise Daugherty Mode of inheritance for gene LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliopathies for gene: LRRC56
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LRAT Louise Daugherty gene: LRAT was added
gene: LRAT was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LEFTY2 Louise Daugherty gene: LEFTY2 was added
gene: LEFTY2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LEFTY2 was set to
Phenotypes for gene: LEFTY2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 LCA5 Louise Daugherty gene: LCA5 was added
gene: LCA5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 KIF7 Louise Daugherty gene: KIF7 was added
gene: KIF7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: KIF7 was set to
Phenotypes for gene: KIF7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 KCNJ13 Louise Daugherty gene: KCNJ13 was added
gene: KCNJ13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IQCB1 Louise Daugherty gene: IQCB1 was added
gene: IQCB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IQCB1 was set to
Phenotypes for gene: IQCB1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 INVS Louise Daugherty gene: INVS was added
gene: INVS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: INVS was set to
Phenotypes for gene: INVS were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IMPDH1 Louise Daugherty gene: IMPDH1 was added
gene: IMPDH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IFT80 Louise Daugherty gene: IFT80 was added
gene: IFT80 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IFT80 was set to
Phenotypes for gene: IFT80 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 IFT43 Louise Daugherty gene: IFT43 was added
gene: IFT43 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: IFT43 was set to
Phenotypes for gene: IFT43 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 HYLS1 Louise Daugherty gene: HYLS1 was added
gene: HYLS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: HYLS1 was set to
Phenotypes for gene: HYLS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 HYDIN Louise Daugherty Mode of inheritance for gene HYDIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GUCY2D Louise Daugherty gene: GUCY2D was added
gene: GUCY2D was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GLIS2 Louise Daugherty gene: GLIS2 was added
gene: GLIS2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GLIS2 was set to
Phenotypes for gene: GLIS2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GDF1 Louise Daugherty gene: GDF1 was added
gene: GDF1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: GDF1 was set to
Phenotypes for gene: GDF1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 GAS8 Louise Daugherty Mode of inheritance for gene GAS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v0.34 FOXH1 Louise Daugherty gene: FOXH1 was added
gene: FOXH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: FOXH1 was set to
Phenotypes for gene: FOXH1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 EVC2 Louise Daugherty gene: EVC2 was added
gene: EVC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: EVC2 was set to
Phenotypes for gene: EVC2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 EVC Louise Daugherty gene: EVC was added
gene: EVC was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: EVC was set to
Phenotypes for gene: EVC were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DYNC2H1 Louise Daugherty gene: DYNC2H1 was added
gene: DYNC2H1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: DYNC2H1 was set to
Phenotypes for gene: DYNC2H1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DRC1 Louise Daugherty Mode of inheritance for gene DRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 21, 615294 for gene: DRC1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAL1 Louise Daugherty Mode of inheritance for gene DNAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 16, 614017; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAL1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAI2 Louise Daugherty Mode of inheritance for gene DNAI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 for gene: DNAI2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAI1 Louise Daugherty Mode of inheritance for gene DNAI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAI1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH8 Louise Daugherty Mode of inheritance for gene DNAH8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliopathies for gene: DNAH8
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH5 Louise Daugherty Mode of inheritance for gene DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH11 Louise Daugherty Mode of inheritance for gene DNAH11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAH11
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAH1 Louise Daugherty Mode of inheritance for gene DNAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Too new - not yet linked to the PCD mutations publication for gene: DNAH1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF5 Louise Daugherty Mode of inheritance for gene DNAAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 18, 614874 for gene: DNAAF5
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF4 Louise Daugherty Mode of inheritance for gene DNAAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700 for gene: DNAAF4
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF3 Louise Daugherty Mode of inheritance for gene DNAAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF2 Louise Daugherty Mode of inheritance for gene DNAAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Primary Ciliary Dyskinesia; Bronchiectasis; Ciliary dyskinesia, primary, 10, 612518 for gene: DNAAF2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 DNAAF1 Louise Daugherty Mode of inheritance for gene DNAAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 13, 613193; Primary Ciliary Dyskinesia; Bronchiectasis for gene: DNAAF1
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRX Louise Daugherty gene: CRX was added
gene: CRX was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRX was set to
Phenotypes for gene: CRX were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRELD1 Louise Daugherty gene: CRELD1 was added
gene: CRELD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRELD1 was set to
Phenotypes for gene: CRELD1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CRB1 Louise Daugherty gene: CRB1 was added
gene: CRB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CRB1 was set to
Phenotypes for gene: CRB1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CLRN1 Louise Daugherty gene: CLRN1 was added
gene: CLRN1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CLRN1 was set to
Phenotypes for gene: CLRN1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CFTR Louise Daugherty Mode of inheritance for gene CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cystic Fibrosis; Ciliopathies; Congenital bilateral absence of vas deferens, 277180; Sweat chloride elevation without CF; Cystic fibrosis, 219700; {Hypertrypsinemia, neonatal}; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Bronchiectasis; {Pancreatitis, idiopathic}, 167800 for gene: CFTR
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP55 Louise Daugherty gene: CEP55 was added
gene: CEP55 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP55 were set to Meckel-like syndrome
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP41 Louise Daugherty gene: CEP41 was added
gene: CEP41 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP41 was set to
Phenotypes for gene: CEP41 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP290 Louise Daugherty gene: CEP290 was added
gene: CEP290 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP290 was set to
Phenotypes for gene: CEP290 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CEP164 Louise Daugherty gene: CEP164 was added
gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CEP164 was set to
Phenotypes for gene: CEP164 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CENPF Louise Daugherty Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 31, 616369 for gene: CENPF
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CDH23 Louise Daugherty gene: CDH23 was added
gene: CDH23 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CDH23 was set to
Phenotypes for gene: CDH23 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCNO Louise Daugherty Mode of inheritance for gene CCNO was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 29 for gene: CCNO
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC65 Louise Daugherty Mode of inheritance for gene CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC40 Louise Daugherty Mode of inheritance for gene CCDC40 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 15, 613808; Primary Ciliary Dyskinesia; Bronchiectasis for gene: CCDC40
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC39 Louise Daugherty Mode of inheritance for gene CCDC39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 14, 613807; Primary Ciliary Dyskinesia; Bronchiectasis for gene: CCDC39
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC28B Louise Daugherty gene: CCDC28B was added
gene: CCDC28B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CCDC28B was set to
Phenotypes for gene: CCDC28B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC151 Louise Daugherty Mode of inheritance for gene CCDC151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 30, 616037 for gene: CCDC151
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC114 Louise Daugherty Mode of inheritance for gene CCDC114 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CCDC103 Louise Daugherty Mode of inheritance for gene CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 17, 614679; Primary Ciliary Dyskinesia for gene: CCDC103
Respiratory ciliopathies including non-CF bronchiectasis v0.34 CC2D2A Louise Daugherty gene: CC2D2A was added
gene: CC2D2A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: CC2D2A was set to
Phenotypes for gene: CC2D2A were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C5orf42 Louise Daugherty gene: C5orf42 was added
gene: C5orf42 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: C5orf42 was set to
Phenotypes for gene: C5orf42 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C2orf71 Louise Daugherty gene: C2orf71 was added
gene: C2orf71 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: C2orf71 was set to
Phenotypes for gene: C2orf71 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 C21orf59 Louise Daugherty Mode of inheritance for gene C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 26, 615500 for gene: C21orf59
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS9 Louise Daugherty gene: BBS9 was added
gene: BBS9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS9 was set to
Phenotypes for gene: BBS9 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS7 Louise Daugherty gene: BBS7 was added
gene: BBS7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS7 was set to
Phenotypes for gene: BBS7 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS5 Louise Daugherty gene: BBS5 was added
gene: BBS5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS5 was set to
Phenotypes for gene: BBS5 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS4 Louise Daugherty gene: BBS4 was added
gene: BBS4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS4 was set to
Phenotypes for gene: BBS4 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS2 Louise Daugherty gene: BBS2 was added
gene: BBS2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS2 was set to
Phenotypes for gene: BBS2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS12 Louise Daugherty gene: BBS12 was added
gene: BBS12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS12 was set to
Phenotypes for gene: BBS12 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS10 Louise Daugherty gene: BBS10 was added
gene: BBS10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS10 was set to
Phenotypes for gene: BBS10 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 BBS1 Louise Daugherty gene: BBS1 was added
gene: BBS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: BBS1 was set to
Phenotypes for gene: BBS1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 B9D2 Louise Daugherty gene: B9D2 was added
gene: B9D2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: B9D2 was set to
Phenotypes for gene: B9D2 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 B9D1 Louise Daugherty gene: B9D1 was added
gene: B9D1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: B9D1 was set to
Phenotypes for gene: B9D1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARMC4 Louise Daugherty Mode of inheritance for gene ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARL6 Louise Daugherty gene: ARL6 was added
gene: ARL6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ARL6 was set to
Phenotypes for gene: ARL6 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ARL13B Louise Daugherty gene: ARL13B was added
gene: ARL13B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ARL13B was set to
Phenotypes for gene: ARL13B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AIPL1 Louise Daugherty gene: AIPL1 was added
gene: AIPL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: AIPL1 was set to
Phenotypes for gene: AIPL1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AHI1 Louise Daugherty gene: AHI1 was added
gene: AHI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: AHI1 was set to
Phenotypes for gene: AHI1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 AGPAT2 Louise Daugherty Added phenotypes Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome for gene: AGPAT2
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ADGRV1 Louise Daugherty gene: ADGRV1 was added
gene: ADGRV1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ADGRV1 was set to
Phenotypes for gene: ADGRV1 were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.34 ACVR2B Louise Daugherty gene: ACVR2B was added
gene: ACVR2B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources:
Mode of inheritance for gene: ACVR2B was set to
Phenotypes for gene: ACVR2B were set to Ciliopathies
Respiratory ciliopathies including non-CF bronchiectasis v0.31 RAG2 Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.31 RAG2 Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.30 RAG2 Louise Daugherty Classified gene: RAG2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.30 RAG2 Louise Daugherty Gene: rag2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Classified gene: RAG2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018. Confirm phenotype, MOI and rating.
Respiratory ciliopathies including non-CF bronchiectasis v0.29 RAG2 Louise Daugherty Gene: rag2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.28 RAG2 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.28 RAG2 Louise Daugherty Publications for gene: RAG2 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Classified gene: RAG1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018. Confirm phenotype, MOI and rating.
Respiratory ciliopathies including non-CF bronchiectasis v0.27 RAG1 Louise Daugherty Gene: rag1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.26 RAG1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.26 RAG1 Louise Daugherty Publications for gene: RAG1 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Classified gene: PIK3R1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.25 PIK3R1 Louise Daugherty Gene: pik3r1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.24 PIK3R1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel
Respiratory ciliopathies including non-CF bronchiectasis v0.24 PIK3R1 Louise Daugherty Phenotypes for gene: PIK3R1 were changed from to Immunodeficiency 36, 616005; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v0.23 PIK3R1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association
Respiratory ciliopathies including non-CF bronchiectasis v0.23 PIK3R1 Louise Daugherty Publications for gene: PIK3R1 were set to 29556229
Respiratory ciliopathies including non-CF bronchiectasis v0.22 PIK3R1 Louise Daugherty Publications for gene: PIK3R1 were set to PMID: 29556229
Respiratory ciliopathies including non-CF bronchiectasis v0.21 NFKB2 Louise Daugherty Phenotypes for gene: NFKB2 were changed from Immunodeficiency, common variable, 10, 615577 to Immunodeficiency, common variable, 10, 615577; Bronchiectasis
Respiratory ciliopathies including non-CF bronchiectasis v0.20 NFKB2 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association.
Respiratory ciliopathies including non-CF bronchiectasis v0.20 NFKB2 Louise Daugherty Publications for gene: NFKB2 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.19 NFKB1 Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support support gene-disease association.
Respiratory ciliopathies including non-CF bronchiectasis v0.19 NFKB1 Louise Daugherty Publications for gene: NFKB1 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Classified gene: NFKB2 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.18 NFKB2 Louise Daugherty Gene: nfkb2 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.17 NFKB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM
Respiratory ciliopathies including non-CF bronchiectasis v0.17 NFKB2 Louise Daugherty Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10, 615577
Familial tumoral calcinosis v0.11 SAMD9 Ivone Leong Classified gene: SAMD9 as Amber List (moderate evidence)
Familial tumoral calcinosis v0.11 SAMD9 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. PMID: 16960814 identified the same missense variant in 5 Jewish Yemenite families. PMID: 18094730 identified a nonsense variant in an individual of Jewish Yemenite origin.
Familial tumoral calcinosis v0.11 SAMD9 Ivone Leong Gene: samd9 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.16 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections to Immunodeficiency, common variable, 12, 616576; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.15 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections to Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.14 NFKB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel
Respiratory ciliopathies including non-CF bronchiectasis v0.14 NFKB1 Louise Daugherty Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Classified gene: NFKB1 as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Respiratory ciliopathies including non-CF bronchiectasis v0.13 NFKB1 Louise Daugherty Gene: nfkb1 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.12 RAG2 Louise Daugherty Source NHS GMS was added to RAG2.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 RAG1 Louise Daugherty Source NHS GMS was added to RAG1.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 PIK3R1 Louise Daugherty Source NHS GMS was added to PIK3R1.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 NFKB2 Louise Daugherty Source NHS GMS was added to NFKB2.
Rating Changed from No List (delete) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.12 NFKB1 Louise Daugherty Source NHS GMS was added to NFKB1.
Rating Changed from No List (delete) to Red List (low evidence)
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Green List (high evidence)
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Added comment: Comment on list classification: Promoted from green to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.6 PDE8B Ivone Leong Classified gene: PDE8B as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.6 PDE8B Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating.
Primary pigmented nodular adrenocortical disease v0.6 PDE8B Ivone Leong Gene: pde8b has been classified as Green List (High Evidence).
Mitochondrial disorders v1.87 KARS Eleanor Williams Added comment: Comment on publications: Added publications reported by Zornitza Stark
Mitochondrial disorders v1.87 KARS Eleanor Williams Publications for gene: KARS were set to
Primary pigmented nodular adrenocortical disease v0.5 PDE11A Ivone Leong Classified gene: PDE11A as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.5 PDE11A Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating.
Primary pigmented nodular adrenocortical disease v0.5 PDE11A Ivone Leong Gene: pde11a has been classified as Green List (High Evidence).
Primary pigmented nodular adrenocortical disease v0.4 PRKAR1A Ivone Leong Classified gene: PRKAR1A as Green List (high evidence)
Primary pigmented nodular adrenocortical disease v0.4 PRKAR1A Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM.
Primary pigmented nodular adrenocortical disease v0.4 PRKAR1A Ivone Leong Gene: prkar1a has been classified as Green List (High Evidence).
Familial tumoral calcinosis v0.10 GALNT3 Ivone Leong Classified gene: GALNT3 as Green List (high evidence)
Familial tumoral calcinosis v0.10 GALNT3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM.
Familial tumoral calcinosis v0.10 GALNT3 Ivone Leong Gene: galnt3 has been classified as Green List (High Evidence).
Familial tumoral calcinosis v0.9 FGF23 Ivone Leong Classified gene: FGF23 as Green List (high evidence)
Familial tumoral calcinosis v0.9 FGF23 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM.
Familial tumoral calcinosis v0.9 FGF23 Ivone Leong Gene: fgf23 has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Added comment: Comment on phenotypes: Phenotype added based on external expert review and evidence from OMIM
Respiratory ciliopathies including non-CF bronchiectasis v0.11 PIK3CD Anna de Burca Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, 615513; Bronchiectasis
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Classified gene: TNNI3K as Green List (high evidence)
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases of Cardiac conduction disease with or without dilated cardiomyopathy with plausible disease causing variants in the TNNI3K gene.
Progressive cardiac conduction disease v0.3 TNNI3K Eleanor Williams Gene: tnni3k has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.10 PIK3CD Louise Daugherty Mode of pathogenicity for gene: PIK3CD was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Progressive cardiac conduction disease v0.2 TNNI3K Eleanor Williams gene: TNNI3K was added
gene: TNNI3K was added to Progressive cardiac conduction disease. Sources: Literature
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
Added comment: TNNI3K associated with Cardiac conduction disease with or without dilated cardiomyopathy in OMIM.

3 cases reported of families with cardiac conduction disease with or without dilated cardiomyopathy (PMID: 24925317 (Theis et al 2014), 25791106 (Xi et al 2015), 29355681 (Fan et al 2018)). Variants segregate within the 3 families. 3 different heterozygous variants found; G526D, T539A and a splice site variant (c.333 + 2 T > C) which may result in a premature stop codon.

Has also been added to the Cardiac arrhythmias GMS Rare Disease Virtual panel
Sources: Literature
Respiratory ciliopathies including non-CF bronchiectasis v0.9 PIK3CD Louise Daugherty Publications for gene: PIK3CD were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Classified gene: PIK3CD as Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Added comment: Comment on list classification: Upgraded to green based on review by Ian Berry.
Respiratory ciliopathies including non-CF bronchiectasis v0.8 PIK3CD Anna de Burca Gene: pik3cd has been classified as Green List (High Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v0.7 PIK3CD Louise Daugherty Mode of inheritance for gene: PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hypothyroidism v1.16 CDCA8 Ivone Leong Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; thyroid dysgenesis to Congenital hypothyroidism; thyroid dysgenesis; No OMIM number
Respiratory ciliopathies including non-CF bronchiectasis v0.6 STK36 Louise Daugherty Publications for gene: STK36 were set to
Respiratory ciliopathies including non-CF bronchiectasis v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Congenital hypothyroidism v1.15 TBL1X Ivone Leong Publications for gene: TBL1X were set to PMID: 27603907
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Marked gene: CYP3A4 as ready
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Classified gene: CYP3A4 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber.There is not sufficient evidence to promote this gene to green status. The functional studies described in PMID: 29461981 is only in vitro studies. Have put 'watchlist' tag on.
Hypophosphataemia or rickets v0.30 CYP3A4 Ivone Leong Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Marked gene: SLC9A3R1 as ready
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v1.20 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM)
Hypogonadotropic hypogonadism v1.19 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to PMID: 28324054
Laterality disorders and isomerism v0.7 ZIC3 Louise Daugherty Publications for gene: ZIC3 were set to
Laterality disorders and isomerism v0.6 ZIC3 Louise Daugherty commented on gene: ZIC3: Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794
Laterality disorders and isomerism v0.6 NODAL Louise Daugherty Publications for gene: NODAL were set to
Laterality disorders and isomerism v0.5 NODAL Louise Daugherty edited their review of gene: NODAL: Added comment: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). In 14/269 cases with heterotaxy and or cardiovascular malformations, mutations identified in listed PMID. Mutations included missense, splice site and an in-frame indel.
Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes: Heterotaxy syndrome; Heterotaxy, visceral, 5, 270100; Visceral Heterotaxy; Heterotaxy, Visceral, 5, Autosomal. Publications: 19064609; Changed publications: 19064609
Pituitary hormone deficiency v0.67 KCNQ1 Martina Owens reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.5 LRRC56 Louise Daugherty Publications for gene: LRRC56 were set to
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Classified gene: SLC9A3R1 as Red List (low evidence)
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red based on review by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Hypophosphataemia or rickets v0.29 SLC9A3R1 Ivone Leong Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypophosphataemia or rickets v0.28 SLC9A3R1 Martina Owens reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.28 FGFR1 Martina Owens reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: ; Publications: 15625620; Phenotypes: ; Mode of inheritance:
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty edited their review of gene: ACVR2B: Changed publications: 9916847
Laterality disorders and isomerism v0.4 ACVR2B Louise Daugherty commented on gene: ACVR2B: From review 4 Jul 2017, 7:24 a.m. Panel Name Familial non syndromic congenital heart disease. Panel version: 1.8 Helen Brittain (Genomics England Curator)
Green List (high evidence)
Three unrelated cases of left-right axis malformations, including cardiac anomalies e.g. left atrialisomerism in PMID:9916847.
4 Jul 2017, 7:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heterotaxy syndrome; Heterotaxy, visceral, 4, autosomal, 613751; Visceral Heterotaxy; Heterotaxy, Visceral, 4, Autosomal
Publications: 9916847
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.26 GCM2 Martina Owens reviewed gene: GCM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27745835, 29264504; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.16 TRPM4 Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM
Brugada syndrome and cardiac sodium channel disease v1.16 TRPM4 Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559
Long QT syndrome v1.9 SNTA1 Eleanor Williams Added comment: Comment on phenotypes: Added missing phenotype from OMIM
Long QT syndrome v1.9 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955
Hypogonadotropic hypogonadism v1.18 DCAF17 Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19026396, 20507343, 29178422; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism v1.18 CCDC141 Martina Owens reviewed gene: CCDC141: Rating: AMBER; Mode of pathogenicity: ; Publications: 28324054, 27014940; Phenotypes: ; Mode of inheritance:
Hypophosphataemia or rickets v0.27 CYP3A4 Martina Owens reviewed gene: CYP3A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461981; Phenotypes: vitamin Ddependent rickets type 3 (no OMIM number); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.26 CYP3A4 Ivone Leong gene: CYP3A4 was added
gene: CYP3A4 was added to Hypophosphataemia or rickets. Sources: NHS GMS
Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP3A4 were set to 29461981
Differences in sex development v1.28 AMHR2 Martina Owens reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type II, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v1.28 AMH Martina Owens reviewed gene: AMH: Rating: GREEN; Mode of pathogenicity: ; Publications: 28528332; Phenotypes: Persistent Mullerian duct syndrome, type I, 261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v1.27 AMHR2 Ivone Leong gene: AMHR2 was added
gene: AMHR2 was added to Disorders of sex development. Sources: NHS GMS
Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMHR2 were set to 28528332
Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type II, 261550
Differences in sex development v1.27 AMH Ivone Leong gene: AMH was added
gene: AMH was added to Disorders of sex development. Sources: NHS GMS
Mode of inheritance for gene: AMH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMH were set to 28528332
Phenotypes for gene: AMH were set to Persistent Mullerian duct syndrome, type I, 261550
Primary pigmented nodular adrenocortical disease v0.3 PDE11A Martina Owens reviewed gene: PDE11A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767104; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, 610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary pigmented nodular adrenocortical disease v0.3 PDE8B Martina Owens reviewed gene: PDE8B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18272904; Phenotypes: Pigmented nodular adrenocortical disease, primary, 3, 614190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary pigmented nodular adrenocortical disease v0.3 PRKAR1A Martina Owens reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12213893; Phenotypes: Pigmented nodular adrenocortical disease, primary, 1, 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial tumoral calcinosis v0.8 SAMD9 Martina Owens reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 KL Martina Owens reviewed gene: KL: Rating: RED; Mode of pathogenicity: ; Publications: 17710231; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 FGF23 Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 15590700; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial tumoral calcinosis v0.8 GALNT3 Martina Owens reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital hypothyroidism v1.14 CDCA8 Ivone Leong Source NHS GMS was added to CDCA8.
Congenital hypothyroidism v1.13 CDCA8 Ivone Leong Source Expert Review was added to CDCA8.
Rating Changed from No List (delete) to Red List (low evidence)
Congenital hypothyroidism v1.12 CDCA8 Ivone Leong All sources for gene: CDCA8 were removed
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Classified gene: CDCA8 as Amber List (moderate evidence)
Congenital hypothyroidism v1.11 CDCA8 Ivone Leong Gene: cdca8 has been classified as Amber List (Moderate Evidence).
Primary pigmented nodular adrenocortical disease v0.2 PDE11A Ivone Leong gene: PDE11A was added
gene: PDE11A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE11A were set to 16767104
Phenotypes for gene: PDE11A were set to Pigmented nodular adrenocortical disease, primary, 2, 610475
Primary pigmented nodular adrenocortical disease v0.2 PDE8B Ivone Leong gene: PDE8B was added
gene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE8B were set to 18272904
Phenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, 614190
Primary pigmented nodular adrenocortical disease v0.2 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAR1A were set to 12213893
Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, 610489
Familial tumoral calcinosis v0.7 SAMD9 Ivone Leong Phenotypes for gene: SAMD9 were changed from to Tumoral calcinosis, familial, normophosphatemic, 610455
Familial tumoral calcinosis v0.6 KL Ivone Leong Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 617994
Familial tumoral calcinosis v0.5 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
Familial tumoral calcinosis v0.4 GALNT3 Ivone Leong Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Familial tumoral calcinosis v0.3 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
Familial tumoral calcinosis v0.2 SAMD9 Ivone Leong gene: SAMD9 was added
gene: SAMD9 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD9 were set to 18094730; 16960814
Familial tumoral calcinosis v0.2 KL Ivone Leong gene: KL was added
gene: KL was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: KL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KL were set to 17710231
Familial tumoral calcinosis v0.2 FGF23 Ivone Leong gene: FGF23 was added
gene: FGF23 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: FGF23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF23 were set to 15590700
Familial tumoral calcinosis v0.2 GALNT3 Ivone Leong gene: GALNT3 was added
gene: GALNT3 was added to Familial tumoral calcinosis. Sources: NHS GMS
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 15133511
Intellectual disability v2.596 PPP1R21 Louise Daugherty Added comment: Comment on publications: added publications recommended by external reviews
Intellectual disability v2.596 PPP1R21 Louise Daugherty Publications for gene: PPP1R21 were set to 29808498; 28940097
Fetal anomalies v0.62 CDKN1C Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic, imprinted status unknown' to 'Monoallelic, paternally imprinted (maternal allele expressed). This reflects DDG2P update which now lists 'imprinted' MOI for both BECKWITH-WIEDEMANN SYNDROME and IMAGe Syndrome. This MOI is taken from the PanelApp 'Imprinted Genes' panel.
Fetal anomalies v0.62 CDKN1C Rebecca Foulger Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v0.48 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751; 24624461; 28508599
DDG2P v0.47 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Added comment: Comment when marking as ready: Sufficient cases. Phenotype (antenatal detection of narrow chest, fractures and bowed femora) is within the spectrum of presentation with OI. Therefore appropriate for inclusion.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases. Presenting with antenatal detection of narrow chest, bowed femora and fractures therefore within the spectrum of OI presentation and could mimic this. Appropriate for inclusion.
Osteogenesis imperfecta v1.16 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Osteogenesis imperfecta v1.15 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Osteogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype in terms of short ribs / narrow chest and neonatal respiratory distress
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.6 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Thoracic dystrophies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment when marking as ready: Sufficient cases, relevant phenotype. Therefore considered green. Also I will add it to the thoracic dystrophies and OI panels in view of the presentation with small chest / respiratory distress and fractures.
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.139 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Penetrance for gene: TRPV6 were set to unknown
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Intellectual disability v2.595 NUS1 Konstantinos Varvagiannis gene: NUS1 was added
gene: NUS1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NUS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NUS1 were set to 25066056; 29100083; 24824130; 30348779
Phenotypes for gene: NUS1 were set to #617082 - ?Congenital disorder of glycosylation, type 1aa; #617831 - Mental retardation, autosomal dominant 55, with seizures; Abnormality of extrapyramidal motor function
Penetrance for gene: NUS1 were set to unknown
Review for gene: NUS1 was set to AMBER
gene: NUS1 was marked as current diagnostic
Added comment: Mutations in NUS1 have been implicated in recessive as well as dominant forms of ID (1 and 3 unrelated individuals respectively). The latter individuals presented with a developmental and epileptic encephalopathy with ID. At least 2 of these individuals had tremor and other movement disorders. A recent study proposes that NUS1 variants contribute to Parkinson's disease (1 individual with de novo variant affecting the canonical splice site, 26 additional individuals with missense variants - for which segregation studies where not however performed). ID is not commented on for these individuals.

NUS1 is included in the DD panel of G2P, associated with "Epilepsy and intellectual disability". (Monoallelic LoF variants / Disease confidence : probable). This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). Associated phenotypes in OMIM and others discussed in the literature are summarized below (to my understanding).

As a result, NUS1 can be considered for inclusion in the ID panel probably as amber.
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Recessive - [MIM #617082 - ?Congenital disorder of glycosylation, type 1aa] :

Park et al. (2014 - PMID: 25066056) report on an individual homozygous for a NUS1 missense variant (R290H) and suggest that biallelic variants cause a congenital disorder of glycosylation.

The authors based in studies in yeast, mice and man provide evidence that NUS1 encodes the Nogo-B receptor (NgBR), a subunit of cis-prenyltransferase (cis-PTase), important for its activation. cis-PTase catalyzes one of the reactions for dolichol biosynthesis. Dolichol, in turn, is a carrier of glycans for N-linked glycosylation, O-mannosylation and GPI anchor biosynthesis.

Genetic defects in the dolichol biosynthetic pathway have been linked to other forms of CDG and/or other recessive or dominant neurodevelopmental disorders (eg. SRD5A3- and DHDDS-related disorders).

Similarities are provided at the cellular level between different organisms. Heterozygous knockout mice appear normal. Homozygosity is associated with embryonic lethality before E6.5. Conditional knockout in mouse embryonic fibroblasts led to accumulation of free cholesterol, decreased cis-PTase activity, and mannose incorporation in protein (the first & third rescued by transduction with lentiviral human NgBR).

In patient fibroblasts protein levels appeared similar to controls. Interaction with Nogo-B (and hCIT - the product of DHDDS) was not affected. As in mice, accumulation of free cholesterol was observed in cells, with decreased cis-PTase activity and mannose incorporation. LAMP-1 and ICAM-1 were hypoglycosylated in patient fibroblasts. Altered dolichol profiles in serum and urine were observed in carriers of the NUS1 variant, similarly to what described in individuals with DHDDS LoF variants.
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Dominant - [MIM #617831 - Mental retardation, autosomal dominant 55, with seizures].

Hamdan et al. (2017 - PMID: 29100083) report on 3 unrelated individuals with developmental and epileptic encephalopathy (onset: 10m - 2.5y) and ID. Two individuals harbored de novo LoF variants while a third subject had a deletion of exon 2. Movement disorders were noted in all 3 and included tremor (2 subjects) or ataxia (1 additional subject).

The authors cite a previous study on 6q22.1 deletions the critical region of which encompassed only NUS1 and the promoter of SLC35F1 (Szafranski et al. - PMID: 24824130). Haploinsufficiency is discussed as a possible mechanism (pLI of 0.87). A more severe phenotype due to dramatic reduction of NUS1 activity is proposed for the previously reported patient with CDG.
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Other:
Guo et al. (2018 - PMID: 30348779) suggest that NUS1 pathogenic variants contribute to Parkinson's disease. By performing WES in 39 individuals with early onset Parkinson's disease and their unaffected patients (and sibs) the authors identified 1 individual with de novo insertion affecting a NUS1 canonical splice site. RT-PCR demonstrated increased mRNA levels compared with controls. Skipping of 91 bp of exon 3 was demonstrated.

Study in 2 large sporadic PD-patient (N=1852+3237)/control cohorts (N=1565+2858) suggested association between NUS1 non-synonymous variants and PD (P=1.01e-5, OR:11.3). Other genetic causes of PD were excluded in 26 additional individuals with NUS1 missense variants.

Phenotypes of all 27 individuals are provided in Dataset_S04.

NUS1 has been found to be differentially expressed in PD mouse models.

RNAi-mediated knockdown of Tango14 (the Drosophila NUS1) resulted in impaired climbing activity, reduction in brain dopamine levels and abnormal apoptotic signals in brain.
Sources: Literature, Radboud University Medical Center, Nijmegen
Epidermolysis bullosa and congenital skin fragility v0.11 SERPINB8 Rebecca Foulger commented on gene: SERPINB8: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Epidermolysis bullosa and congenital skin fragility v0.11 CSTA Rebecca Foulger commented on gene: CSTA: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Intellectual disability v2.595 STAG2 Konstantinos Varvagiannis gene: STAG2 was added
gene: STAG2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: STAG2 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: STAG2 were set to 29263825; 28296084; 30158690; 30447054; 19449417; 26443594; 25677961; 23637084; 25450604
Phenotypes for gene: STAG2 were set to Global developmental delay; Intellectual disability; Abnormality of head or neck; Microcephaly; Growth delay; Hearing impairment; Abnormal heart morphology
Penetrance for gene: STAG2 were set to unknown
Review for gene: STAG2 was set to GREEN
gene: STAG2 was marked as current diagnostic
Added comment: Several affected individuals (from at least 8 unrelated) families have been reported in the literature. The phenotype consists - among others - of DD/ID. STAG2 is located on long arm of chromosome X (Xq25). Based on these reports, both males and females can be affected.

Soardi et al. (2017 - PMID: 29263825) report an affected male belonging to a large pedigree with 4 other similarly affected males. The disorder in this pedigree followed a typical X-linked inheritance pattern. All affected males were hemizygous for a missense variant (NM_001042749.1:c.980G>A or p.Ser327Asn). Common phenotype consisted of moderate ID, short stature, sensory hearing loss and some similar facial features. Unaffected males did not harbor the variant. Heterozygous females were not affected. Co-segragation of the variant with the affected status under an X-linked model, appeared unlikely to have occurred by chance (probability of 1/131,072 - logarithm of odds score of 5.12).

Mullegama et al. (2017 - PMID: 28296084) report on an 8-year-old girl harboring a de novo nonsense variant in STAG2 (NM_001042749.1:c.205C>T or p.Arg69Ter). This individual presented - among others with - DD, microcephaly, growth delay, digit anomalies, particular facial features, and anomalies of other systems (eg. hearing loss, cardiac defect, etc). The authors summarize the features of 2 subjects from the DDD study as available in DECIPHER, without additional details. [Variants of these individuals NM_001042749.1:c.1913_1922del10 or p.(A638Vfs*10) / NM_001042749.1:c.1811G>A p.(R604Q)].

Yuan et al. (2018 - PMID: 30158690) report on 4 females with de novo LoF STAG2 variants as well as 1 male subject with a de novo missense one. DD (5/5) and ID (4/4) were features in all individuals for whom this information was available. One additional female had an intragenic STAG2 deletion, although this subject was not reported to have DD or ID (table S6 : microcephaly, seizures and facial phenotype). It is not known whether the deletion was inherited or had occurred as a de novo event. All variants from this study have been submitted in ClinVar (phenotype : STAG2-related disorder).

Mullegama et al. (2018 - PMID: 30447054) report on a 4-year-old male with DD, microcephaly, growth delay, digit anomalies due to a de novo missense STAG2 variant (c.3027A>T or p.Lys1009Asn). As discussed by the authors at the time of the study 33 males with Xq25 duplications and ID had been reported (PMIDs cited: 19449417, 26443594, 25677961, 23637084, 25450604).

Discussed in these articles :

STAG2 (or STAG1) is one of the 4 core proteins of the cohesin complex, the other 3 being SMC1A, SMC3 and RAD21. Mutations in genes encoding these proteins or their interactors (eg. NIBPL, HDAC8, ESCO2, etc) have been associated cohesinopathies, a group of multisystem developmental disorders (eg. Cornelia de Lange syndrome, Roberts/SC phocomelia, etc).

It has been commented that the phenotype of STAG2-related disorder presents overlap with other cohesinopathies (eg. DD, microcephaly and growth retardation, craniofacial features, anomalies of the digits, etc).

Decreased proportion of nuclei with premature sister chromatid separation compared to controls was found on one occasion (suggestive of tighter sister chromatid cohesion) [Mullegama-A]. Sister chromatid cohesion was not affected in another report [Soardi et al.].

Western blot demonstrated significant reduction of STAG2 levels for a nonsense variant [Mullegama-A]. Levels were not perturbed for a missense variant [Soardi et al.].

Upon immunofluorescence STAG2 presented normal (nuclear) localization for a missense variant for which this was studied [Soardi et al.].

Perturbation of the cell cycle profile (higher percentage of G2/M cells) was demonstrated for patient fibroblasts compared to controls on one occasion where this was studied. [Soardi et al.].

Microarray expression studies in patient fibroblasts demonstrated altered transcription (upregulation) of genes implicated in cell division, mitosis and DNA replication upon comparison with normal fibroblasts [Soardi et al.].

The effect of a missense variant on STAG2 binding to other cohesin subunits (SCC1, SMC1 and SMC3) and regulators was studied. Binding was found to be reduced in vivo (in HeLa cells) for SCC1 (its direct binding partner) as well as SMC1, SMC3 (possibly indirectly). Reduced STAG2 binding to cohesin regulators was also shown in vivo. However, in vitro studies were not suggestive of impaired binding of STAG2 to SCC1 (a finding difficult to explain) [Soardi et al.].

STAG2 appears to be intolerant to LoF variants (pLI of 1 in ExAC). Z-Score for missense variants is 5.11.

Mullegama et al. (B) comment that Xq25 duplications in males may be associated with milder phenotypes compared to intragenic variants. They further hypothesize that males are able to survive less damaging variants while females are able to survive more deleterious (eg. LoF) ones though with more severe phenotypes (similarity to the MECP2 model is discussed).
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STAG2 is not associated with any phenotype in OMIM.
In G2P this gene is associated with STAG2-related developmental delay with microcephaly and congenital anomalies (disease confidence : confirmed / Both DD and ID among the phenotypes assigned to this entry).
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STAG2 is included in gene panels for ID offered by some diagnostic laboratories.
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As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Childhood onset hereditary spastic paraplegia v0.62 SLC1A4 Arianna Tucci commented on gene: SLC1A4
Childhood onset hereditary spastic paraplegia v0.62 SLC16A2 Arianna Tucci commented on gene: SLC16A2
Childhood onset hereditary spastic paraplegia v0.62 SERAC1 Arianna Tucci commented on gene: SERAC1
Childhood onset hereditary spastic paraplegia v0.62 SACS Arianna Tucci commented on gene: SACS
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2: Onset of SPG12 usually in the first decade
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2
Childhood onset hereditary spastic paraplegia v0.62 REEP1 Arianna Tucci commented on gene: REEP1
Childhood onset hereditary spastic paraplegia v0.62 POLR3A Arianna Tucci commented on gene: POLR3A
Childhood onset hereditary spastic paraplegia v0.62 PNPLA6 Arianna Tucci commented on gene: PNPLA6
Childhood onset hereditary spastic paraplegia v0.62 PLP1 Arianna Tucci commented on gene: PLP1
Childhood onset hereditary spastic paraplegia v0.62 OPA3 Arianna Tucci commented on gene: OPA3
Childhood onset hereditary spastic paraplegia v0.62 NKX6-2 Arianna Tucci commented on gene: NKX6-2
Childhood onset hereditary spastic paraplegia v0.62 NIPA1 Arianna Tucci commented on gene: NIPA1
Childhood onset hereditary spastic paraplegia v0.62 L1CAM Arianna Tucci commented on gene: L1CAM
Childhood onset hereditary spastic paraplegia v0.62 KIF5A Arianna Tucci commented on gene: KIF5A
Childhood onset hereditary spastic paraplegia v0.62 KIF1A Arianna Tucci commented on gene: KIF1A
Childhood onset hereditary spastic paraplegia v0.62 KIDINS220 Arianna Tucci commented on gene: KIDINS220
Childhood onset hereditary spastic paraplegia v0.62 HSPD1 Arianna Tucci commented on gene: HSPD1
Childhood onset hereditary spastic paraplegia v0.62 GBA2 Arianna Tucci commented on gene: GBA2
Childhood onset hereditary spastic paraplegia v0.62 FARS2 Arianna Tucci commented on gene: FARS2
Childhood onset hereditary spastic paraplegia v0.62 FA2H Arianna Tucci commented on gene: FA2H
Childhood onset hereditary spastic paraplegia v0.62 ERLIN2 Arianna Tucci commented on gene: ERLIN2
Childhood onset hereditary spastic paraplegia v0.62 DDHD2 Arianna Tucci commented on gene: DDHD2
Childhood onset hereditary spastic paraplegia v0.62 DDHD1 Arianna Tucci commented on gene: DDHD1
Childhood onset hereditary spastic paraplegia v0.62 CYP7B1 Arianna Tucci commented on gene: CYP7B1
Childhood onset hereditary spastic paraplegia v0.62 CYP2U1 Arianna Tucci commented on gene: CYP2U1
Childhood onset hereditary spastic paraplegia v0.62 CAPN1 Arianna Tucci reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v0.62 C19orf12 Arianna Tucci commented on gene: C19orf12
Childhood onset hereditary spastic paraplegia v0.62 C12orf65 Arianna Tucci commented on gene: C12orf65
Childhood onset hereditary spastic paraplegia v0.62 BSCL2 Arianna Tucci commented on gene: BSCL2
Childhood onset hereditary spastic paraplegia v0.62 B4GALNT1 Arianna Tucci commented on gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v0.62 ATL1 Arianna Tucci commented on gene: ATL1
Childhood onset hereditary spastic paraplegia v0.62 AP4S1 Arianna Tucci commented on gene: AP4S1
Childhood onset hereditary spastic paraplegia v0.62 AP4M1 Arianna Tucci commented on gene: AP4M1
Childhood onset hereditary spastic paraplegia v0.62 AP4E1 Arianna Tucci commented on gene: AP4E1
Childhood onset hereditary spastic paraplegia v0.62 AP4B1 Arianna Tucci commented on gene: AP4B1
Childhood onset hereditary spastic paraplegia v0.62 ALS2 Arianna Tucci commented on gene: ALS2
Childhood onset hereditary spastic paraplegia v0.62 ALDH18A1 Arianna Tucci commented on gene: ALDH18A1
Childhood onset hereditary spastic paraplegia v0.62 AIMP1 Arianna Tucci commented on gene: AIMP1
Childhood onset hereditary spastic paraplegia v0.62 AFG3L2 Arianna Tucci commented on gene: AFG3L2
Childhood onset hereditary spastic paraplegia v0.62 ADAR Arianna Tucci commented on gene: ADAR
Monogenic diabetes v0.10 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from 604928; Wolfram syndrome 2 to Wolfram syndrome 2604928
Epidermolysis bullosa and congenital skin fragility v0.11 CDSN Rebecca Foulger edited their review of gene: CDSN: Added comment: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.; Changed phenotypes: Peeling skin syndrome 1, 270300, PSS1
Epidermolysis bullosa and congenital skin fragility v0.11 CAST Rebecca Foulger commented on gene: CAST: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Cholestasis v0.10 PEX2 Ivone Leong Source Other was added to PEX2.
Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 for gene: PEX2
Publications for gene PEX2 were changed from to 14630978; 1546315; 2454948
Cholestasis v0.10 CC2D2A Ivone Leong Source Other was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from to 27959436; 19574260; 18950740
Cholestasis v0.10 CYP7B1 Ivone Leong Source Other was added to CYP7B1.
Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7B1
Publications for gene CYP7B1 were changed from to 9802883
Cholestasis v0.10 ALDOB Ivone Leong Source Other was added to ALDOB.
Mode of inheritance for gene ALDOB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes acute liver failure; Neonatal and Adult Cholestasis; Fructose intolerance, hereditary for gene: ALDOB
Cholestasis v0.10 PEX12 Ivone Leong Source Other was added to PEX12.
Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 3B 266510; Peroxisome biogenesis disorder 3A (Zellweger) 614859 for gene: PEX12
Publications for gene PEX12 were changed from to 9090384; 9354782
Cholestasis v0.10 PEX26 Ivone Leong Source Other was added to PEX26.
Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 for gene: PEX26
Publications for gene PEX26 were changed from to 12851857; 17336976; 15858711
Cholestasis v0.10 PEX6 Ivone Leong Source Other was added to PEX6.
Mode of inheritance for gene PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 for gene: PEX6
Publications for gene PEX6 were changed from to 10408779; 8670792; 8940266
Cholestasis v0.10 SERPINA1 Ivone Leong Source Other was added to SERPINA1.
Mode of inheritance for gene SERPINA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alpha-1 Antitrypsin Deficiency; Neonatal and Adult Cholestasis for gene: SERPINA1
Publications for gene SERPINA1 were changed from to 26126923; 26003074; 24750955
Cholestasis v0.10 PEX1 Ivone Leong Source Other was added to PEX1.
Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome; Neonatal and Adult Cholestasis for gene: PEX1
Publications for gene PEX1 were changed from to 9398848; 22871920; 9398847
Cholestasis v0.10 VPS33B Ivone Leong Source Other was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes arthrogryposis-renal-cholestasis syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis 1 for gene: VPS33B
Cholestasis v0.10 VIPAS39 Ivone Leong Source Other was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Cholestasis v0.10 UGT1A1 Ivone Leong Source Other was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Gilbert syndrome] 143500; Crigler-Najjar syndrome, type I 218800; Neonatal and Adult Cholestasis; Crigler-Najjar syndrome, type II 606785; unconjugated jaundice for gene: UGT1A1
Publications for gene UGT1A1 were changed from to 11013440
Cholestasis v0.10 TJP2 Ivone Leong Source Other was added to TJP2.
Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis, Progressive Familial Intrahepatic 4; Neonatal and Adult Cholestasis; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Cholestasis v0.10 TALDO1 Ivone Leong Source Other was added to TALDO1.
Mode of inheritance for gene TALDO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transaldolase deficiency, 606003 for gene: TALDO1
Publications for gene TALDO1 were changed from to 18331807; 11283793; 21119539; 19299175; 23315216; 25388407; 29721915; 24097415
Cholestasis v0.10 SLC25A13 Ivone Leong Source Other was added to SLC25A13.
Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD; Citrullinemia type 2, neonatal onset; Citrullinemia type 2, adult onset; Citrullinemia, adult-onset type II 603471; Citrullinemia, type II, neonatal-onset 605814; Neonatal and Adult Cholestasis for gene: SLC25A13
Publications for gene SLC25A13 were changed from to 11343052; 11281457; 12424587
Cholestasis v0.10 NR1H4 Ivone Leong Source Other was added to NR1H4.
Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ciliopathy; modifier of other genetic cholestatic conditions; Cholestasis, Progressive Familial Intrahepatic 5; Cholestasis, progressive familial intrahepatic 5, 617049; Neonatal and Adult Cholestasis for gene: NR1H4
Cholestasis v0.10 NPC2 Ivone Leong Source Other was added to NPC2.
Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625 for gene: NPC2
Publications for gene NPC2 were changed from to 17470133; 11567215; 11125141; 12955717
Cholestasis v0.10 NPC1 Ivone Leong Source Other was added to NPC1.
Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease type C1, 257220; Neonatal and Adult Cholestasis for gene: NPC1
Publications for gene NPC1 were changed from to 9634529; 10480349; 11545687; 10521290; 9211849; 24135395; 12554680; 11754101
Cholestasis v0.10 NOTCH2 Ivone Leong Source Other was added to NOTCH2.
Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 2; Neonatal and Adult Cholestasis for gene: NOTCH2
Publications for gene NOTCH2 were changed from to 22209762; 16773578
Cholestasis v0.10 JAG1 Ivone Leong Mode of inheritance for gene JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 1, 118450; Neonatal and Adult Cholestasis; Alagille syndrome for gene: JAG1
Publications for gene JAG1 were changed from to 23881058
Cholestasis v0.10 HSD3B7 Ivone Leong Source Other was added to HSD3B7.
Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid sythesis defect, congenital, 1 607765; Neonatal and Adult Cholestasis for gene: HSD3B7
Publications for gene HSD3B7 were changed from to 12679481; 11067870
Cholestasis v0.10 GNAS Ivone Leong Source Other was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GNAS was changed from to Other - please provide details in the comments
Added phenotypes Cholestasis; McCune-Albright syndrome for gene: GNAS
Publications for gene GNAS were changed from to 10673080
Cholestasis v0.10 DCDC2 Ivone Leong Source Other was added to DCDC2.
Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2
Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900
Cholestasis v0.10 CYP7A1 Ivone Leong Source Other was added to CYP7A1.
Mode of inheritance for gene CYP7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7A1
Publications for gene CYP7A1 were changed from to 9802883
Cholestasis v0.10 CYP27A1 Ivone Leong Source Other was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Publications for gene CYP27A1 were changed from to 9186905; 28937538; 16278884; 11903362; 8514861; 2019602; 12000359; 7915755
Cholestasis v0.10 CLDN1 Ivone Leong Source Other was added to CLDN1.
Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ichthyosis-hypotrichosis-sclerosing cholangitis; Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626; Neonatal and Adult Cholestasis; NISCH syndrome; Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome for gene: CLDN1
Publications for gene CLDN1 were changed from to 24641442; 16619213; 15521008; 12164927; 28154377; 29146216
Cholestasis v0.10 BCS1L Ivone Leong Source Other was added to BCS1L.
Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis; GRACILE syndrome for gene: BCS1L
Publications for gene BCS1L were changed from to 11528392; 12215968; 9792866
Cholestasis v0.10 BAAT Ivone Leong Source Other was added to BAAT.
Mode of inheritance for gene BAAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypercholanemia, Familial; Hypercholanemia, familial, 607748; fat soluble vitamin deficiency; Neonatal and Adult Cholestasis; cholestasis for gene: BAAT
Publications for gene BAAT were changed from to 23415802; 12704386
Cholestasis v0.10 ATP8B1 Ivone Leong Source Other was added to ATP8B1.
Mode of inheritance for gene ATP8B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ATP8B1 was changed from to Other - please provide details in the comments
Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, intrahepatic, of pregnancy, 1, 147480; Cholestasis, Progressive Familial Intrahepatic 1; Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, progressive familial intrahepatic 1, 211600; Neonatal and Adult Cholestasis for gene: ATP8B1
Cholestasis v0.10 AMACR Ivone Leong Source Other was added to AMACR.
Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950 for gene: AMACR
Publications for gene AMACR were changed from to 12512044; 10655068
Cholestasis v0.10 AKR1D1 Ivone Leong Source Other was added to AKR1D1.
Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 2 235555; fat soluble vitamin deficiency; liver failure; bile salt synthesis defect; Bile acid synthesis defect, congenital, 2; Neonatal and Adult Cholestasis; cholestasis for gene: AKR1D1
Cholestasis v0.10 ABCC2 Ivone Leong Source Other was added to ABCC2.
Mode of inheritance for gene ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes modifier in biliary atresia; Dubin Johnson syndrome; Cholestasis; intrahepatic cholestasis of pregnancy; Dubin-Johnson syndrome, 237500 for gene: ABCC2
Publications for gene ABCC2 were changed from to 11477083; 21044052; 9425227; 29499989; 12942343; 10053008; 29707407
Cholestasis v0.10 ABCB4 Ivone Leong Source Other was added to ABCB4.
Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB4 was changed from to Other - please provide details in the comments
Added phenotypes Progressive Familial Intrahepatic Cholestasis; modifier in other forms of genetic cholestasis; Familial Intrahepatic Cholestasis; gallstones; cholelithiasis; PFIC; PFIC3; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Neonatal and Adult Cholestasis; Cholestasis, Progressive Familial Intrahepatic 3 for gene: ABCB4
Cholestasis v0.10 ABCB11 Ivone Leong Source Other was added to ABCB11.
Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments
Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; PFIC2; Cholestasis, benign recurrent intrahepatic, 2, 605479; Neonatal and Adult Cholestasis for gene: ABCB11
Intestinal failure or congenital diarrhoea v0.10 STXBP2 Ivone Leong Source Other was added to STXBP2.
Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 for gene: STXBP2
Publications for gene STXBP2 were changed from to 20798128; 19804848
Intestinal failure or congenital diarrhoea v0.10 GUCY2C Ivone Leong Source Other was added to GUCY2C.
Mode of inheritance for gene GUCY2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GUCY2C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Familial Diarrhea 6 614616 for gene: GUCY2C
Publications for gene GUCY2C were changed from to 22521417; 22436048; 25994218
Intestinal failure or congenital diarrhoea v0.10 EPCAM Ivone Leong Source Other was added to EPCAM.
Mode of inheritance for gene EPCAM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diarrhea 5, with tufting enteropathy, congenital 613217 for gene: EPCAM
Publications for gene EPCAM were changed from to 18572020; 21315192; 27302973
Intestinal failure or congenital diarrhoea v0.10 SKIV2L Ivone Leong Source Other was added to SKIV2L.
Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 2 614602 for gene: SKIV2L
Publications for gene SKIV2L were changed from to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v0.10 TTC37 Ivone Leong Source Other was added to TTC37.
Mode of inheritance for gene TTC37 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 1 222470 for gene: TTC37
Publications for gene TTC37 were changed from 27302973 to 27302973; 20176027
Cholestasis v0.9 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease
Cholestasis v0.8 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Cholestasis v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.47 KCNA2 Rebecca Foulger commented on gene: KCNA2: DDG2P updated 09/01/2019. Ratings remain as 'confirmed' for both the activating (gain of function) and the loss of function EPILEPTIC ENCEPHALOPATHY phenotypes.
DDG2P v0.47 KCNA2 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update from 09/01/2019: 'EPILEPTIC ENCEPHALOPATHY' phenotype replaced.
DDG2P v0.47 KCNA2 Rebecca Foulger Phenotypes for gene: KCNA2 were changed from EPILEPTIC ENCEPHALOPATHY. to EPILEPTIC ENCEPHALOPATHY Loss-of-function; EPILEPTIC ENCEPHALOPATHY Gain-of-function
DDG2P v0.46 PRRX1 Rebecca Foulger commented on gene: PRRX1: DDG2P updated 09/01/2019. Rating renains as 'possible' for both the monoallelic and biallelic disorders.
DDG2P v0.46 PRRX1 Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced.
DDG2P v0.46 PRRX1 Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic
DDG2P v0.45 RPS6KA3 Rebecca Foulger commented on gene: RPS6KA3: DDG2P updated 09/01/2019. Ratings remain as 'Confirmed' for both the XLD and XLR forms of Coffin-Lowry Syndrome.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to match DDG2P update for 09/01/2019. 'COFFIN-LOWRY SYNDROME 303600' phenotype replaced.
DDG2P v0.45 RPS6KA3 Rebecca Foulger Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME 303600 to Coffin-Lowry Syndrome 2 RPS6KA3 XLD; Coffin-Lowry Syndrome 2 RPS6KA3 XLR
DDG2P v0.44 HDAC8 Rebecca Foulger commented on gene: HDAC8: DDG2P updated 09/01/2019. Ratings confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes.
DDG2P v0.44 HDAC8 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to reflect DDG2P update from 09/01/2019: 'WILSON-TURNER SYNDROME 309585' phenotype was removed.
DDG2P v0.44 HDAC8 Rebecca Foulger Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME 309585; CORNELIA DE LANGE-LIKE SYNDROME to CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR; Cornelia de Lange Syndrome HDAC8 X-linked dominant
Non-acute porphyrias v0.11 GATA1 Ivone Leong Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Non-acute porphyrias v0.10 GATA1 Ivone Leong Publications for gene: GATA1 were set to
Non-acute porphyrias v0.9 GATA1 Ivone Leong Mode of inheritance for gene: GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cholestasis v0.6 USP53 Ivone Leong Publications for gene: USP53 were set to
Intestinal failure or congenital diarrhoea v0.9 TTC37 Ivone Leong Publications for gene: TTC37 were set to
Intestinal failure or congenital diarrhoea v0.8 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850
Intestinal failure or congenital diarrhoea v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.6 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Non-acute porphyrias v0.8 GATA1 Ivone Leong Tag watchlist tag was added to gene: GATA1.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Classified gene: GATA1 as Amber List (moderate evidence)
Non-acute porphyrias v0.8 GATA1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as there are only 3 cases associated with Non-Fanconi anaemia; however, variants in this gene will be reported with caution for non-acute porphyria. This is agreed upon by the gastrohepatology specialist group WebEx on 14th Jan 2019. Have put "watch list" taq.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Gene: gata1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.61 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who notes that "the phenotype is certainly appropriate, it meets our guidance on number of unrelated families and >1 variant therefore it seems appropriate for a green rating. Re the nomenclature: (6-bp deletion, c.862_868delACCAGG) c.862_868del would usually indicate that 862-868 inclusive is deleted which would be 7bp... However they then wrote 6 nucleotides afterwards. If it is 6bp deleted it could be in frame (they have indicated deletion YQ) so I am not sure. On balance I think it is worth including."
Hereditary spastic paraplegia v1.185 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain who says that Progressive spasticity seems to be a clear feature and there are sufficient cases.
Hereditary spastic paraplegia v1.184 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who agrees that it seems appropriate to include in terms of phenotypic overlap. Sufficient unrelatd cases (>3) to support diagnostic rating.
Hereditary spastic paraplegia v1.183 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: mi; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca Deleted their review
Intestinal failure or congenital diarrhoea v0.5 STX3 Anna de Burca reviewed gene: STX3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24726755; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28027573; Phenotypes: Cholestasis, Microvillus inclusion disease with cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24014347, 29266534; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-acute porphyrias v0.7 GATA1 Anna de Burca reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25251786, 17148589; Phenotypes: Congenital erythropoietic porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v2.595 NR4A2 Konstantinos Varvagiannis commented on gene: NR4A2: In a study of 457 autism families (Feliciano et al. - doi.org/10.1101/516625) the authors provide phenotypic information on a further individual with ASD and ID. This subject (SP0041645 - SPARK cohort) harbored a de novo frameshift variant (p.G231fs using ENST00000409572.1 as reference). Table 2 includes also the individual previously reported by Iossifov et al. who also presented with ASD and ID (11172.p1 - SSC cohort - PMID and details discussed below).
Early onset or syndromic epilepsy v1.13 ZMIZ1 Konstantinos Varvagiannis gene: ZMIZ1 was added
gene: ZMIZ1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 29754769; 18053775; 17967885; 26163108; 27479843
Phenotypes for gene: ZMIZ1 were set to Global developmental delay; Intellectual disability; Feeding difficulties; Growth abnormality; Microcephaly; Abnormality of the skeletal system; Abnormality of the urinary system; Abnormality of the cardiovascular system; Abnormality of head or neck; Seizures
Penetrance for gene: ZMIZ1 were set to unknown
Review for gene: ZMIZ1 was set to AMBER
Added comment: Gene added in the ID panel. Seizures were noted in 3 unrelated individuals (with different variants) of the 19 reported to date. If the proportion of individuals with this feature is sufficient then this gene can be considered for inclusion in this panel.

-------
From the ID panel:

Carapito et al. (doi.org/10.1016/j.ajhg.2018.12.007 - PMID to add) report on 19 individuals with variants affecting ZMIZ1 (alternative symbols RAI17/KIAA1224/ZIMP10).

Features included DD/ID (19/19), feeding difficulties, growth failure, microcephaly and variable congenital malformations. Seizures were noted in 3 unrelated individuals (with different variants).

Variants included 6 missense SNVs, 5 frameshift variants, 1 splice site variant, 1 synonymous variant with probable impact on splicing (not studied) and 2 translocations.

In all individuals for whom parental studies were possible (n=16), the variants had occurred as de novo events while for 3 sibs harboring a frameshift variant parental samples were unavailable. These subjects however harbored the same variant as a DDD study participant included in the current report.

One translocation disrupted only ZMIZ1 while a second [t(X;10)] did not disrupt the coding sequence of any gene but only a distal enhancer 276 kb upstream of ZMIZ1. A previous study had found recurrent SNVs of the same region in ASD subjects and suggested possible interaction with the ZMIZ1 promoter (Liu et al. - PMID: 29754769).

The deleterious effect of both translocations was confirmed by quantitative RT-PCR. For 4 missense SNVs as well as a splice variant mRNA levels were similar to controls. The splice site (-2) variant was shown to produce 2 new splicing isoforms from utilization of alternative splice site acceptors.

ZMIZ1 belongs to the PIAS-like family of transcriptional coregulators.

Five missense variants were located in an alanine rich domain (aa 280-305). Seven other variants were predicted to shorten or remove the C-terminal transactivation domain.

This gene enhances - among others - the transcriptional activity of androgen receptor (AR). In vitro studies using HEK293T cell lines supported impaired coactivation of the AR for 3 variants studied. In utero electroporation of pathogenic variants in mouse embryos (E14.5) led to impaired neuronal positioning of the electroporated neurons and disruption of the morphology/polarization.

As the authors note previous studies have shown expression of Zimp10 in the developing mouse brain, craniofacial tissue as well as the interdigital region of limbs (PMIDs cited : 18053775 and 17967885) in line with ID, facial phenotype and syndactyly observed in some patients.

Finally the authors cite a previous report on an individual with ID due to a translocation [t(10;19)] disrupting both ZMIZ1 and PRR12 (Córdova-Fletes al. - PMID: 26163108). Although disruption of ZMIZ1 is discussed as a cause, PRR12 has recently been proposed as (also) an ID gene (Leduc et al. - PMID: 29556724). [For details see PRR12 in the current panel].
------------
One of the variants found in 2 unrelated individuals in the aforementioned study [NM_020338.3:c.899C>T or p.(T300M)] has been reported in a further individual investigated for ID in the context of a bigger cohort (Lelieveld et al. - PMID: 27479843).
[ Details in the denovo-db : http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZMIZ1 ]
------------
ZMIZ1 is not associated with any phenotype in OMIM, nor in G2P.
This gene has been included in gene panels for intellectual disability offered by some diagnostic laboratories.
------------
As a result, ZMIZ1 can be considered for inclusion in the ID panel as green.
Sources: Literature
Intellectual disability v2.595 ZMIZ1 Konstantinos Varvagiannis gene: ZMIZ1 was added
gene: ZMIZ1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 29754769; 18053775; 17967885; 26163108; 27479843
Phenotypes for gene: ZMIZ1 were set to Global developmental delay; Intellectual disability; Feeding difficulties; Growth abnormality; Microcephaly; Abnormality of the skeletal system; Abnormality of the urinary system; Abnormality of the cardiovascular system; Abnormality of head or neck
Penetrance for gene: ZMIZ1 were set to unknown
Review for gene: ZMIZ1 was set to GREEN
gene: ZMIZ1 was marked as current diagnostic
Added comment: Carapito et al. (doi.org/10.1016/j.ajhg.2018.12.007 - PMID to add) report on 19 individuals with variants affecting ZMIZ1 (alternative symbols RAI17/KIAA1224/ZIMP10).

Features included DD/ID (19/19), feeding difficulties, growth failure, microcephaly and variable congenital malformations. Seizures were noted in 3 unrelated individuals (with different variants).

Variants included 6 missense SNVs, 5 frameshift variants, 1 splice site variant, 1 synonymous variant with probable impact on splicing (not studied) and 2 translocations.

In all individuals for whom parental studies were possible (n=16), the variants had occurred as de novo events while for 3 sibs harboring a frameshift variant parental samples were unavailable. These subjects however harbored the same variant as a DDD study participant included in the current report.

One translocation disrupted only ZMIZ1 while a second [t(X;10)] did not disrupt the coding sequence of any gene but only a distal enhancer 276 kb upstream of ZMIZ1. A previous study had found recurrent SNVs of the same region in ASD subjects and suggested possible interaction with the ZMIZ1 promoter (Liu et al. - PMID: 29754769).

The deleterious effect of both translocations was confirmed by quantitative RT-PCR. For 4 missense SNVs as well as a splice variant mRNA levels were similar to controls. The splice site (-2) variant was shown to produce 2 new splicing isoforms from utilization of alternative splice site acceptors.

ZMIZ1 belongs to the PIAS-like family of transcriptional coregulators.

Five missense variants were located in an alanine rich domain (aa 280-305). Seven other variants were predicted to shorten or remove the C-terminal transactivation domain.

This gene enhances - among others - the transcriptional activity of androgen receptor (AR). In vitro studies using HEK293T cell lines supported impaired coactivation of the AR for 3 variants studied. In utero electroporation of pathogenic variants in mouse embryos (E14.5) led to impaired neuronal positioning of the electroporated neurons and disruption of the morphology/polarization.

As the authors note previous studies have shown expression of Zimp10 in the developing mouse brain, craniofacial tissue as well as the interdigital region of limbs (PMIDs cited : 18053775 and 17967885) in line with ID, facial phenotype and syndactyly observed in some patients.

Finally the authors cite a previous report on an individual with ID due to a translocation [t(10;19)] disrupting both ZMIZ1 and PRR12 (Córdova-Fletes al. - PMID: 26163108). Although disruption of ZMIZ1 is discussed as a cause, PRR12 has recently been proposed as (also) an ID gene (Leduc et al. - PMID: 29556724). [For details see PRR12 in the current panel].
------------
One of the variants found in 2 unrelated individuals in the aforementioned study [NM_020338.3:c.899C>T or p.(T300M)] has been reported in a further individual investigated for ID in the context of a bigger cohort (Lelieveld et al. - PMID: 27479843).
[ Details in the denovo-db : http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZMIZ1 ]
------------
ZMIZ1 is not associated with any phenotype in OMIM, nor in G2P.
This gene has been included in gene panels for intellectual disability offered by some diagnostic laboratories.
------------
As a result, ZMIZ1 can be considered for inclusion in the ID panel as green.
Sources: Literature
Paroxysmal central nervous system disorders v0.17 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.17 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.16 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.15 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.15 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.14 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Skeletal Muscle Channelopathies v1.11
Sources: Expert list
Paroxysmal central nervous system disorders v0.13 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.13 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.12 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.11 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.10 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.8 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB2 Ian Berry gene: NFKB2 was added
gene: NFKB2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB2 was set to GREEN
gene: NFKB2 was marked as current diagnostic
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 NFKB1 Ian Berry gene: NFKB1 was added
gene: NFKB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: NFKB1 was set to GREEN
Added comment: NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG2 Ian Berry gene: RAG2 was added
gene: RAG2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: RAG2 was set to GREEN
gene: RAG2 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 RAG1 Ian Berry gene: RAG1 was added
gene: RAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: RAG1 were set to unknown
Review for gene: RAG1 was set to GREEN
gene: RAG1 was marked as current diagnostic
Added comment: Results in varying severity phenotypes of immunodeficiency, including hypomorphic mutations resulting in CVID. Two patients have been seen in our bronchiectasis clinic with "leaky" RAG mutations and mild symptoms including bronchiectasis, with limited additional immunological findings. Bronchiectasis (with immunological phenotype) is a common feature of RAG-CVID, see e.g. PMID 24996264. Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3CD Ian Berry reviewed gene: PIK3CD: 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: 29556229; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v0.4 PIK3R1 Ian Berry gene: PIK3R1 was added
gene: PIK3R1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to PMID: 29556229
Penetrance for gene: PIK3R1 were set to unknown
Review for gene: PIK3R1 was set to GREEN
gene: PIK3R1 was marked as current diagnostic
Added comment: Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds. Causes a form of primary immunodeficiency which frequently results in bronchiectasis with limited additional immunological findings.
Sources: Expert Review