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Cataract v0.259 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Classified gene: KIF1A as Green List (high evidence)
Dystonia and Chorea v0.166 KIF1A Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.165 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 32096284; 32935419
Phenotypes for gene: KIF1A were set to Dystonia; spastic paraplegia; intellectual disability
Review for gene: KIF1A was set to GREEN
gene: KIF1A was marked as current diagnostic
Added comment: Dystonia was a feature of the phenotype in 4/10 cases with de novo or parental germline mosaic variants.
Sources: Literature
Ataxia v0.268 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.268 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ataxia v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia v0.267 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ataxia as a feature of the condition. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3402 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3401 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ID as a feature of the phenotype. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Classified gene: SCN5A as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Added comment: Comment on list classification: needs discussion as treatable
Incidentalome_PREGEN_DRAFT v0.43 SCN5A Tony Roscioli Gene: scn5a has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.42 SCN5A Tony Roscioli reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Classified gene: SDHA as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.42 SDHA Tony Roscioli Gene: sdha has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.41 SDHA Tony Roscioli reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.223 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Classified gene: SDHAF2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion
Incidentalome_PREGEN_DRAFT v0.41 SDHAF2 Tony Roscioli Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.40 SDHAF2 Tony Roscioli reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.223 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Classified gene: SDHB as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Added comment: Comment on list classification: probably limited to adult onset disease and so should be kept on this list - needs discussion
Incidentalome_PREGEN_DRAFT v0.40 SDHB Tony Roscioli Gene: sdhb has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.39 SDHB Tony Roscioli reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.39 SDHC Tony Roscioli reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.222 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Classified gene: SDHD as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Added comment: Comment on list classification: may cause childhood onset disease
Incidentalome_PREGEN_DRAFT v0.39 SDHD Tony Roscioli Gene: sdhd has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.38 SDHD Tony Roscioli reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Classified gene: SMAD3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Added comment: Comment on list classification: may cause childhood onset disease
Incidentalome_PREGEN_DRAFT v0.38 SMAD3 Tony Roscioli Gene: smad3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.37 SMAD3 Tony Roscioli reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Classified gene: SMAD4 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Added comment: Comment on list classification: May cause Myhre syndrome but also adult cancer - needs discussion
Incidentalome_PREGEN_DRAFT v0.37 SMAD4 Tony Roscioli Gene: smad4 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.36 SMAD4 Tony Roscioli reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.92 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.36 SNCA Tony Roscioli reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Joubert syndrome and other neurological ciliopathies v0.91 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.36 SNCB Tony Roscioli reviewed gene: SNCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Classified gene: SQSTM1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Added comment: Comment on list classification: adult dementia but may also present in childhood - needs discussion
Incidentalome_PREGEN_DRAFT v0.36 SQSTM1 Tony Roscioli Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.35 SQSTM1 Tony Roscioli reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Classified gene: SRD5A2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Added comment: Comment on list classification: Needs discussion due to clinical features
Incidentalome_PREGEN_DRAFT v0.35 SRD5A2 Tony Roscioli Gene: srd5a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6103 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Mendeliome v0.6103 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Mendeliome v0.6103 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli Marked gene: SRD5A2 as ready
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli Gene: srd5a2 has been classified as Green List (High Evidence).
Mendeliome v0.6102 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.34 SRD5A2 Tony Roscioli reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Classified gene: STAT5B as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.34 STAT5B Tony Roscioli Gene: stat5b has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.33 STAT5B Tony Roscioli reviewed gene: STAT5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Classified gene: STK11 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Added comment: Comment on list classification: may present in younger adulthood - needs discussion
Incidentalome_PREGEN_DRAFT v0.33 STK11 Tony Roscioli Gene: stk11 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.32 STK11 Tony Roscioli reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Classified gene: SUFU as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.32 SUFU Tony Roscioli Gene: sufu has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.31 SUFU Tony Roscioli reviewed gene: SUFU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.31 TACC1 Tony Roscioli Classified gene: TACC1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.31 TACC1 Tony Roscioli Gene: tacc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.30 TACC1 Tony Roscioli reviewed gene: TACC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Classified gene: TACC3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Added comment: Comment on list classification: not a clear cause of Mendelian disease
Incidentalome_PREGEN_DRAFT v0.30 TACC3 Tony Roscioli Gene: tacc3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.29 TACC3 Tony Roscioli reviewed gene: TACC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Classified gene: TAF15 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Added comment: Comment on list classification: not clearly a cause of germline inherited disease
Incidentalome_PREGEN_DRAFT v0.29 TAF15 Tony Roscioli Gene: taf15 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Marked gene: TARDBP as ready
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Added comment: Comment when marking as ready: Adult onset neurological condition - should be kept on this list
Incidentalome_PREGEN_DRAFT v0.28 TARDBP Tony Roscioli Gene: tardbp has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Marked gene: TBL1XR1 as ready
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Gene: tbl1xr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Classified gene: TBL1XR1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.28 TBL1XR1 Tony Roscioli Gene: tbl1xr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Marked gene: TFG as ready
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Added comment: Comment when marking as ready: may present in childhood
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Gene: tfg has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Classified gene: TFG as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.27 TFG Tony Roscioli Gene: tfg has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.26 TFG Tony Roscioli edited their review of gene: TFG: Added comment: may present in childhood; Changed rating: RED
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Classified gene: TGFBR1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.26 TGFBR1 Tony Roscioli Gene: tgfbr1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Classified gene: TGFBR2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.25 TGFBR2 Tony Roscioli Gene: tgfbr2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.24 TGFBR2 Tony Roscioli edited their review of gene: TGFBR2: Added comment: may present in childhood; Changed rating: RED
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Classified gene: TNNI3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Added comment: Comment on list classification: Disease has been observed in childhood
Incidentalome_PREGEN_DRAFT v0.24 TNNI3 Tony Roscioli Gene: tnni3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Classified gene: TNNT2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.23 TNNT2 Tony Roscioli Gene: tnnt2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Classified gene: TREM2 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Added comment: Comment on list classification: Neurological symptoms appear not to present in childhood - needs review for a final decision
Incidentalome_PREGEN_DRAFT v0.22 TREM2 Tony Roscioli Gene: trem2 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Classified gene: TET2 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Added comment: Comment on list classification: may present in childhood
Incidentalome_PREGEN_DRAFT v0.21 TET2 Tony Roscioli Gene: tet2 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.20 TCF12 Tony Roscioli Classified gene: TCF12 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.20 TCF12 Tony Roscioli Gene: tcf12 has been classified as Red List (Low Evidence).
Mendeliome v0.6101 ZMYND15 Bryony Thompson Marked gene: ZMYND15 as ready
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.19 TCF12 Tony Roscioli reviewed gene: TCF12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TET2 Tony Roscioli reviewed gene: TET2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TFG Tony Roscioli reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TGFBR1 Tony Roscioli reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TGFBR2 Tony Roscioli reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Classified gene: TMEM43 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Added comment: Comment on list classification: unclear whether disease presents in childhood - needs review
Incidentalome_PREGEN_DRAFT v0.19 TMEM43 Tony Roscioli Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6101 ZMYND15 Bryony Thompson Classified gene: ZMYND15 as Green List (high evidence)
Mendeliome v0.6101 ZMYND15 Bryony Thompson Gene: zmynd15 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.18 TNNI3 Tony Roscioli reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6100 ZMYND15 Bryony Thompson gene: ZMYND15 was added
gene: ZMYND15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZMYND15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMYND15 were set to 24431330; 33169450; 20675388
Phenotypes for gene: ZMYND15 were set to Severe oligozoospermia
Review for gene: ZMYND15 was set to GREEN
Added comment: 4 unrelated consanguineous cases with homozygous loss of function variants. Zmynd15-null male mice display reduced testis weight and azoospermia
Sources: Literature
Incidentalome_PREGEN_DRAFT v0.18 TNNT2 Tony Roscioli reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Classified gene: TP53 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Added comment: Comment on list classification: Needs discussion - could be removed as early age of onset possible
Incidentalome_PREGEN_DRAFT v0.18 TP53 Tony Roscioli Gene: tp53 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Classified gene: TPM1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Added comment: Comment on list classification: May cause a treatable cardiomyopathy - should be reviewed for exclusion
Incidentalome_PREGEN_DRAFT v0.17 TPM1 Tony Roscioli Gene: tpm1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.16 TPR Tony Roscioli Classified gene: TPR as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.16 TPR Tony Roscioli Gene: tpr has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.15 TPR Tony Roscioli reviewed gene: TPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.15 TREM2 Tony Roscioli reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.15 TRIM24 Tony Roscioli Classified gene: TRIM24 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.15 TRIM24 Tony Roscioli Gene: trim24 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli Marked gene: TRIM24 as ready
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli Gene: trim24 has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli changed review comment from: Not a known Mendelian disease gene; to: Not a known Mendelian disease gene
Incidentalome_PREGEN_DRAFT v0.14 TRIM24 Tony Roscioli reviewed gene: TRIM24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ichthyosis and Porokeratosis v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6099 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Mendeliome v0.6099 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Mendeliome v0.6099 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Mendeliome v0.6098 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Mendeliome v0.6097 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6096 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.123 PNPLA1 Zornitza Stark Phenotypes for gene: PNPLA1 were changed from to Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Ichthyosis and Porokeratosis v0.122 PNPLA1 Zornitza Stark Publications for gene: PNPLA1 were set to
Ichthyosis and Porokeratosis v0.121 PNPLA1 Zornitza Stark Mode of inheritance for gene: PNPLA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.120 PNPLA1 Zornitza Stark reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246504, 24344921, 26691440; Phenotypes: Ichthyosis, congenital, autosomal recessive 10, MIM# 615024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark edited their review of gene: STS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Marked gene: STS as ready
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.120 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked, MIM# 308100
Ichthyosis and Porokeratosis v0.119 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.118 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Ichthyosis and Porokeratosis v0.118 STS Zornitza Stark reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6096 TMEM251 Bryony Thompson Marked gene: TMEM251 as ready
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Skeletal dysplasia v0.77 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.76 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Mendeliome v0.6096 TMEM251 Bryony Thompson Classified gene: TMEM251 as Amber List (moderate evidence)
Mendeliome v0.6096 TMEM251 Bryony Thompson Gene: tmem251 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6095 TMEM251 Bryony Thompson gene: TMEM251 was added
gene: TMEM251 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature
Review for gene: TMEM251 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Mendeliome v0.6094 LOR Zornitza Stark Marked gene: LOR as ready
Mendeliome v0.6094 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Mendeliome v0.6094 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Mendeliome v0.6093 LOR Zornitza Stark Publications for gene: LOR were set to
Mendeliome v0.6092 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Marked gene: LOR as ready
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.118 LOR Zornitza Stark Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117
Ichthyosis and Porokeratosis v0.117 LOR Zornitza Stark Publications for gene: LOR were set to
Ichthyosis and Porokeratosis v0.116 LOR Zornitza Stark Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.115 LOR Zornitza Stark reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673107, 9326398, 9326323, 25234742, 25142840; Phenotypes: Vohwinkel syndrome with ichthyosis, MIM# 604117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.115 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165
Ichthyosis and Porokeratosis v0.114 KRT10 Zornitza Stark Mode of inheritance for gene: KRT10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.113 KRT10 Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis with confetti, MIM# 609165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.113 KRT1 Zornitza Stark Phenotypes for gene: KRT1 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Ichthyosis and Porokeratosis v0.112 KRT1 Zornitza Stark Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.111 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6091 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Mendeliome v0.6091 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Mendeliome v0.6091 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Mendeliome v0.6090 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Mendeliome v0.6089 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark edited their review of gene: CYP4F22: Changed phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.111 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Ichthyosis and Porokeratosis v0.110 CYP4F22 Zornitza Stark Publications for gene: CYP4F22 were set to
Ichthyosis and Porokeratosis v0.109 CYP4F22 Zornitza Stark Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.108 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: 16436457; Phenotypes: chthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6088 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Mendeliome v0.6088 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Mendeliome v0.6088 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Mendeliome v0.6087 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Mendeliome v0.6086 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.108 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023
Ichthyosis and Porokeratosis v0.107 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Ichthyosis and Porokeratosis v0.106 CERS3 Zornitza Stark Mode of inheritance for gene: CERS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.105 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6085 ALOX12B Zornitza Stark Deleted their comment
Mendeliome v0.6085 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Mendeliome v0.6085 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Mendeliome v0.6085 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Mendeliome v0.6084 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Mendeliome v0.6083 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALOX12B Zornitza Stark commented on gene: ALOX12B: Well established gene-disease association.
Mendeliome v0.6082 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.105 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Ichthyosis and Porokeratosis v0.104 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Ichthyosis and Porokeratosis v0.103 ALOX12B Zornitza Stark Mode of inheritance for gene: ALOX12B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.102 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004]; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.15 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Renal Glomerular Disease_SuperPanel v0.217 Bryony Thompson Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Marked gene: GPR179 as ready
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.8 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Congenital Stationary Night Blindness v0.7 GPR179 Kristin Rigbye reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v1.0 Zornitza Stark promoted panel to version 1.0
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Classified gene: EFNB1 as Green List (high evidence)
Frontonasal dysplasia v0.20 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.19 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Frontonasal dysplasia. Sources: Expert list
Mode of inheritance for gene: EFNB1 was set to Other
Publications for gene: EFNB1 were set to 15166289
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, MIM# 304110
Review for gene: EFNB1 was set to GREEN
Added comment: XLD. More than 20 families reported.

Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism.
Sources: Expert list
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.18 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Opitz GBBB syndrome, type II, MIM# 145410; Hypertelorism, Teebi type, MIM# 145420
Frontonasal dysplasia v0.17 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Frontonasal dysplasia v0.16 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type II, MIM# 145410, Hypertelorism, Teebi type, MIM# 145420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Marked gene: MID1 as ready
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.16 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I, MIM# 300000
Frontonasal dysplasia v0.15 MID1 Zornitza Stark Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Frontonasal dysplasia v0.14 MID1 Zornitza Stark reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Opitz GBBB syndrome, type I, MIM# 300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.14 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Frontonasal dysplasia v0.13 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Frontonasal dysplasia v0.12 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.11 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692347, 22140057, 24668755, 32216639, 31914496, 29681084; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6082 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Mendeliome v0.6082 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Mendeliome v0.6082 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760
Mendeliome v0.6081 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Mendeliome v0.6080 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6079 ALX3 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype.
Sources: Expert list; to: Well established gene-disease association.
Sources: Expert list
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Frontonasal dysplasia v0.11 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM# 136760
Frontonasal dysplasia v0.10 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Frontonasal dysplasia v0.9 ALX3 Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.8 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Well established gene-disease association.; Changed publications: 19409524
Frontonasal dysplasia v0.8 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Frontonasal dysplasia v0.7 ALX3 Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 1, MIM# 136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6079 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Mendeliome v0.6079 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Mendeliome v0.6079 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Mendeliome v0.6078 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Mendeliome v0.6077 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6076 ALX1 Zornitza Stark reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Frontonasal dysplasia v0.7 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Frontonasal dysplasia v0.6 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Frontonasal dysplasia v0.5 ALX1 Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v1.0 Zornitza Stark promoted panel to version 1.0
Lissencephaly and Band Heterotopia v1.0 Zornitza Stark promoted panel to version 1.0
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150
Cobblestone Malformations v0.30 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Cobblestone Malformations v0.28 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830
Cobblestone Malformations v0.26 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Cobblestone Malformations v0.24 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.23 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Marked gene: ADAR as ready
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.159 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 to Aicardi-Goutieres syndrome 6, 615010 autosomal recessive
Hereditary Spastic Paraplegia v0.158 ADAR Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.6 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Congenital Disorders of Glycosylation v1.5 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Congenital Disorders of Glycosylation v1.4 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v1.3 PIGM Zornitza Stark reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol deficiency, MIM# 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.3 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.2 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Congenital Disorders of Glycosylation v1.1 GALNT2 Zornitza Stark Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt, MIM# 618885
Congenital Disorders of Glycosylation v1.0 GALNT2 Zornitza Stark edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.22 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Cobblestone Malformations. Sources: Literature
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 32827036
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Review for gene: LAMA2 was set to GREEN
Added comment: Variants in this gene are associated with a range of cortical malformations in addition to the muscle phenotype. Four individuals reported with cobblestone malformations, though note in one individual MRI was normal and the abnormalities were identified on autopsy.
Sources: Literature
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Cobblestone Malformations v0.20 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 FKTN Zornitza Stark Marked gene: FKTN as ready
Cobblestone Malformations v0.19 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Cobblestone Malformations v0.19 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800
Cobblestone Malformations v0.18 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKRP Zornitza Stark Marked gene: FKRP as ready
Cobblestone Malformations v0.17 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cobblestone Malformations v0.17 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153
Cobblestone Malformations v0.16 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3400 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy
Intellectual disability syndromic and non-syndromic v0.3399 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to
Intellectual disability syndromic and non-syndromic v0.3398 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3397 LAMB1 Zornitza Stark reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467, 25925986; Phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Classified gene: LAMB1 as Green List (high evidence)
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Overgrowth v1.0 Zornitza Stark promoted panel to version 1.0
Overgrowth v0.96 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Overgrowth v0.96 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.96 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Overgrowth v0.95 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Overgrowth v0.94 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.93 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Overgrowth v0.93 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.92 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16783569, 27589329; Phenotypes: Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3397 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Intellectual disability syndromic and non-syndromic v0.3396 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Intellectual disability syndromic and non-syndromic v0.3395 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3394 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6076 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Mendeliome v0.6076 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Mendeliome v0.6076 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Overgrowth v0.92 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Overgrowth v0.92 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Mendeliome v0.6075 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Overgrowth v0.92 HIST1H1E Zornitza Stark Phenotypes for gene: HIST1H1E were changed from to Rahman syndrome, MIM# 617537
Mendeliome v0.6074 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6073 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.91 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Overgrowth v0.90 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 HIST1H1E Zornitza Stark reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475857, 33270410, 31910894, 31400068; Phenotypes: Rahman syndrome, MIM# 617537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.89 MTOR Zornitza Stark Publications for gene: MTOR were set to
Overgrowth v0.88 MTOR Zornitza Stark edited their review of gene: MTOR: Changed publications: 27830187
Overgrowth v0.88 MTOR Zornitza Stark Marked gene: MTOR as ready
Overgrowth v0.88 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Overgrowth v0.88 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Overgrowth v0.87 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.86 PTEN Zornitza Stark Marked gene: PTEN as ready
Overgrowth v0.86 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Overgrowth v0.86 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309
Overgrowth v0.85 PTEN Zornitza Stark Publications for gene: PTEN were set to
Overgrowth v0.84 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31433956, 31609537; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.83 NFIX Zornitza Stark Marked gene: NFIX as ready
Overgrowth v0.83 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Overgrowth v0.83 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2, MIM# 614753; Malan syndrome
Overgrowth v0.82 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to 33034087; 29897170; 30548146; 25118028
Overgrowth v0.81 NFIX Zornitza Stark Publications for gene: NFIX were set to
Overgrowth v0.80 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2, MIM# 614753, Malan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.79 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Overgrowth v0.79 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Overgrowth v0.79 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1, MIM# 117550
Overgrowth v0.78 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 NSD1 Zornitza Stark Tag SV/CNV tag was added to gene: NSD1.
Overgrowth v0.77 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.77 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Overgrowth v0.77 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Overgrowth v0.77 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Overgrowth v0.76 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Overgrowth v0.75 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.6073 EED Zornitza Stark Marked gene: EED as ready
Mendeliome v0.6073 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Mendeliome v0.6073 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Mendeliome v0.6072 EED Zornitza Stark Publications for gene: EED were set to
Mendeliome v0.6071 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Marked gene: EED as ready
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3394 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Intellectual disability syndromic and non-syndromic v0.3393 EED Zornitza Stark Publications for gene: EED were set to
Intellectual disability syndromic and non-syndromic v0.3392 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3391 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.75 EED Zornitza Stark Marked gene: EED as ready
Overgrowth v0.75 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Overgrowth v0.75 EED Zornitza Stark Phenotypes for gene: EED were changed from to Cohen-Gibson syndrome, MIM# 617561
Overgrowth v0.74 EED Zornitza Stark Publications for gene: EED were set to
Overgrowth v0.73 EED Zornitza Stark Mode of inheritance for gene: EED was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 EED Zornitza Stark reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.72 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Overgrowth v0.72 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Overgrowth v0.72 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Overgrowth v0.71 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Overgrowth v0.70 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.69 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Overgrowth v0.69 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Overgrowth v0.69 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650
Overgrowth v0.68 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Overgrowth v0.67 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Overgrowth v0.67 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.67 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Mental retardation, X-linked 93, MIM# 300659
Overgrowth v0.66 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Overgrowth v0.65 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.64 BRWD3 Zornitza Stark Classified gene: BRWD3 as Amber List (moderate evidence)
Overgrowth v0.64 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Overgrowth v0.63 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17668385; Phenotypes: Mental retardation, X-linked 93, MIM# 300659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.61 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pancreatitis v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Muscle Channelopathies v1.0 Zornitza Stark promoted panel to version 1.0
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Marked gene: KCNJ18 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ18 Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.24 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; Andersen syndrome, MIM# 170390; Episodic weakness; Andersen syndrome
Skeletal Muscle Channelopathies v0.23 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Skeletal Muscle Channelopathies v0.22 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11371347, 12796536; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.22 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Skeletal Muscle Channelopathies v0.21 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Skeletal Muscle Channelopathies v0.20 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6070 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Mendeliome v0.6070 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Mendeliome v0.6070 CLCN1 Zornitza Stark Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant 160800; Myotonia congenita, recessive 255700
Mendeliome v0.6069 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Mendeliome v0.6068 CLCN1 Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.6067 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Gene: clcn1 has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.19 CLCN1 Zornitza Stark Publications for gene: CLCN1 were set to
Skeletal Muscle Channelopathies v0.18 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.18 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Skeletal Muscle Channelopathies v0.17 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004673, 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence).
Stickler Syndrome v0.19 COL9A2 Zornitza Stark Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284
Stickler Syndrome v0.18 COL9A2 Zornitza Stark Publications for gene: COL9A2 were set to
Stickler Syndrome v0.17 COL9A2 Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.16 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.16 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134
Stickler Syndrome v0.15 COL9A1 Zornitza Stark Publications for gene: COL9A1 were set to
Stickler Syndrome v0.14 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.13 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.13 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM# 108300
Stickler Syndrome v0.12 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.11 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Stickler Syndrome v0.11 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3
Stickler Syndrome v0.10 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Stickler Syndrome v0.9 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.8 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Stickler Syndrome v0.8 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Stickler Syndrome v0.7 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stickler Syndrome v0.6 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, MONDO:0011493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v1.0 Zornitza Stark promoted panel to version 1.0
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Marked gene: UMOD as ready
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.29 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD); Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Medullary cystic kidney disease 2, MIM# 603860
Renal Tubulointerstitial Disease v0.28 UMOD Zornitza Stark Publications for gene: UMOD were set to
Renal Tubulointerstitial Disease v0.27 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.26 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32954071, 32847529, 32450155; Phenotypes: Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD), Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Medullary cystic kidney disease 2, MIM# 603860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Marked gene: MTOR as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.38 MTOR Zornitza Stark Publications for gene: MTOR were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.37 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.36 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892148; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.36 Zornitza Stark Panel name changed from Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.35 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.34 AKT3 Zornitza Stark Mode of pathogenicity for gene: AKT3 was changed from to Other
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.33 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.32 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.31 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22729224, 22729223, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.31 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6067 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Mendeliome v0.6067 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Mendeliome v0.6067 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Mendeliome v0.6066 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Mendeliome v0.6065 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6064 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Mendeliome v0.6064 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Mendeliome v0.6064 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638
Mendeliome v0.6063 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Mendeliome v0.6062 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778, 20074521; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039, Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6061 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Mendeliome v0.6061 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Mendeliome v0.6061 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Mendeliome v0.6060 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Mendeliome v0.6059 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6058 TUBB Zornitza Stark Marked gene: TUBB as ready
Mendeliome v0.6058 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Mendeliome v0.6058 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Mendeliome v0.6057 TUBB Zornitza Stark Publications for gene: TUBB were set to
Mendeliome v0.6056 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6055 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v1.0 Zornitza Stark promoted panel to version 1.0
Tubulinopathies v0.28 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Tubulinopathies v0.28 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Tubulinopathies v0.28 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Tubulinopathies v0.27 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Tubulinopathies v0.26 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBG1 Zornitza Stark reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.25 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Tubulinopathies v0.25 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Tubulinopathies v0.25 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
Tubulinopathies v0.24 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Tubulinopathies v0.23 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.22 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Tubulinopathies v0.22 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Tubulinopathies v0.22 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Tubulinopathies v0.21 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Tubulinopathies v0.20 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB2B Zornitza Stark reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.19 TUBB Zornitza Stark Marked gene: TUBB as ready
Tubulinopathies v0.19 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Tubulinopathies v0.19 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Tubulinopathies v0.18 TUBB Zornitza Stark Publications for gene: TUBB were set to
Tubulinopathies v0.17 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBB Zornitza Stark reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.16 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.15 TUBA1A Zornitza Stark reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17218254, 17584854, 18728072; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.14 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Vitreoretinopathy v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.6055 FZD4 Zornitza Stark Marked gene: FZD4 as ready
Mendeliome v0.6055 FZD4 Zornitza Stark Gene: fzd4 has been classified as Green List (High Evidence).
Mendeliome v0.6055 FZD4 Zornitza Stark Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780
Mendeliome v0.6054 FZD4 Zornitza Stark Publications for gene: FZD4 were set to
Mendeliome v0.6053 FZD4 Zornitza Stark Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6052 FZD4 Zornitza Stark reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Marked gene: FZD4 as ready
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Gene: fzd4 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.45 FZD4 Zornitza Stark Phenotypes for gene: FZD4 were changed from to Exudative vitreoretinopathy 1, MIM# 133780
Vitreoretinopathy v0.44 FZD4 Zornitza Stark Publications for gene: FZD4 were set to
Vitreoretinopathy v0.43 FZD4 Zornitza Stark Mode of inheritance for gene: FZD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.42 FZD4 Zornitza Stark reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21097938, 33302760, 31999491; Phenotypes: Exudative vitreoretinopathy 1, MIM# 133780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Marked gene: KCNJ13 as ready
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.42 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Snowflake vitreoretinal degeneration, MIM# 193230
Vitreoretinopathy v0.41 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Vitreoretinopathy v0.40 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.39 KCNJ13 Zornitza Stark Classified gene: KCNJ13 as Amber List (moderate evidence)
Vitreoretinopathy v0.39 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.38 KCNJ13 Zornitza Stark reviewed gene: KCNJ13: Rating: AMBER; Mode of pathogenicity: None; Publications: 18179896, 23255580, 31647904; Phenotypes: Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.38 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Vitreoretinopathy v0.37 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Vitreoretinopathy v0.36 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.35 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 22284827; Phenotypes: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.35 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813
Vitreoretinopathy v0.34 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.33 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vitreoretinopathy v0.33 NDP Zornitza Stark Marked gene: NDP as ready
Vitreoretinopathy v0.33 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Vitreoretinopathy v0.33 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Exudative vitreoretinopathy 2, X-linked, MIM# 305390; Norrie disease, MIM# 310600
Vitreoretinopathy v0.32 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Vitreoretinopathy v0.31 NDP Zornitza Stark reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 2, X-linked, MIM# 305390, Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.31 NR2E3 Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Enhanced S-cone syndrome, MIM# 268100
Vitreoretinopathy v0.30 NR2E3 Zornitza Stark Publications for gene: NR2E3 were set to
Vitreoretinopathy v0.29 NR2E3 Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.28 NR2E3 Zornitza Stark reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655056, 11071390, 18294254; Phenotypes: Enhanced S-cone syndrome 268100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6052 TSPAN12 Zornitza Stark Marked gene: TSPAN12 as ready
Mendeliome v0.6052 TSPAN12 Zornitza Stark Gene: tspan12 has been classified as Green List (High Evidence).
Mendeliome v0.6052 TSPAN12 Zornitza Stark Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310
Mendeliome v0.6051 TSPAN12 Zornitza Stark Publications for gene: TSPAN12 were set to
Mendeliome v0.6050 TSPAN12 Zornitza Stark Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 TSPAN12 Zornitza Stark reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Marked gene: TSPAN12 as ready
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Gene: tspan12 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.28 TSPAN12 Zornitza Stark Phenotypes for gene: TSPAN12 were changed from to Exudative vitreoretinopathy 5, MIM# 613310
Vitreoretinopathy v0.27 TSPAN12 Zornitza Stark Publications for gene: TSPAN12 were set to
Vitreoretinopathy v0.26 TSPAN12 Zornitza Stark Mode of inheritance for gene: TSPAN12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.25 TSPAN12 Zornitza Stark reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159111, 20159112, 21334594; Phenotypes: Exudative vitreoretinopathy 5, MIM# 613310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Syndromic Retinopathy v0.159 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.158 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to 33350591
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Review for gene: CTNNB1 was set to GREEN
Added comment: Multiple ocular defects reported in the context of this neurodevelopmental disorder, including vitreoretinopathy.
Sources: Expert Review
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.25 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Vitreoretinopathy v0.24 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Vitreoretinopathy v0.23 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.22 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575650, 33350591, 32039639; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.22 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Vitreoretinopathy v0.21 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Vitreoretinopathy v0.20 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.19 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.0 Zornitza Stark promoted panel to version 1.0
Vascular Malformations_Germline v0.124 TEK Zornitza Stark Publications for gene: TEK were set to
Vascular Malformations_Germline v0.123 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Marked gene: PTEN as ready
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome to Cowden syndrome 1, MIM# 158350; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome
Vascular Malformations_Germline v0.122 PTEN Zornitza Stark Publications for gene: PTEN were set to
Vascular Malformations_Germline v0.121 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196895; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Marked gene: GLMN as ready
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM# 138000
Vascular Malformations_Germline v0.120 GLMN Zornitza Stark Publications for gene: GLMN were set to
Vascular Malformations_Germline v0.119 GLMN Zornitza Stark reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375657, 30460983, 24961656; Phenotypes: Glomuvenous malformations, MIM# 138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Marked gene: ENG as ready
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Publications for gene: ENG were set to
Vascular Malformations_Germline v0.118 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.118 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Vascular Malformations_Germline v0.117 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Vascular Malformations_Germline v0.116 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Vascular Malformations_Germline v0.115 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA 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
Vascular Malformations_Germline v0.114 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Classified gene: PPP2R5D as Green List (high evidence)
Early-onset Parkinson disease v0.96 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.95 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R5D were set to 33338668; 32743835
Phenotypes for gene: PPP2R5D were set to Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355
Review for gene: PPP2R5D was set to GREEN
Added comment: 5 individuals reported with de novo missense variants in this gene, a neurodevelopmental disorder, and onset of parkinsonism between the ages of 20-40 years. Four had the same p.(Glu200Lys) variant, and the fifth had p.(Glu198Lys)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3391 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355
Intellectual disability syndromic and non-syndromic v0.3390 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Intellectual disability syndromic and non-syndromic v0.3389 PPP2R5D Zornitza Stark Mode of pathogenicity for gene: PPP2R5D was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3388 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3387 PPP2R5D Zornitza Stark reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6049 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Mendeliome v0.6049 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Mendeliome v0.6049 PPP2R5D Zornitza Stark Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM#616355
Mendeliome v0.6048 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Mendeliome v0.6047 PPP2R5D Zornitza Stark Mode of pathogenicity for gene: PPP2R5D was changed from to Other
Mendeliome v0.6046 PPP2R5D Zornitza Stark Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6045 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Mendeliome v0.6045 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Mendeliome v0.6045 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170
Mendeliome v0.6044 KAT6B Zornitza Stark Publications for gene: KAT6B were set to
Mendeliome v0.6043 KAT6B Zornitza Stark Mode of pathogenicity for gene: KAT6B was changed from to Other
Mendeliome v0.6042 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.75 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331 to Robinow syndrome, autosomal dominant 2, MIM# 616331
Skeletal dysplasia v0.74 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 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
Skeletal dysplasia v0.73 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6041 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Mendeliome v0.6041 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 DVL1 Zornitza Stark reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6041 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Mendeliome v0.6040 DVL1 Zornitza Stark Publications for gene: DVL1 were set to
Mendeliome v0.6039 DVL1 Zornitza Stark Mode of pathogenicity for gene: DVL1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.6038 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Marked gene: ZFP36L1 as ready
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Classified gene: ZFP36L1 as Red List (low evidence)
Mendeliome v0.6037 ZFP36L1 Zornitza Stark Gene: zfp36l1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3387 SCAMP5 Zornitza Stark Mode of pathogenicity for gene: SCAMP5 was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3386 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other
Genetic Epilepsy v0.1005 SCAMP5 Zornitza Stark Mode of pathogenicity for gene: SCAMP5 was changed from None to Other
Genetic Epilepsy v0.1004 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other
Mendeliome v0.6036 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to 31439720
Mendeliome v0.6035 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed publications: 31439720, 33390987
Intellectual disability syndromic and non-syndromic v0.3386 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from no OMIM number yet to Intellectual disability; seizures; autism
Intellectual disability syndromic and non-syndromic v0.3385 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to PMID: 31439720
Intellectual disability syndromic and non-syndromic v0.3384 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: PMID 33390987: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 33390987; Changed phenotypes: Intellectual disability, seizures, autism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1004 SCAMP5 Zornitza Stark Publications for gene: SCAMP5 were set to 31439720
Genetic Epilepsy v0.1003 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Added comment: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp.

The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 31439720, 33390987
Incidentalome v0.59 THSD4 Zornitza Stark Marked gene: THSD4 as ready
Incidentalome v0.59 THSD4 Zornitza Stark Gene: thsd4 has been classified as Green List (High Evidence).
Incidentalome v0.59 THSD4 Zornitza Stark Classified gene: THSD4 as Green List (high evidence)
Incidentalome v0.59 THSD4 Zornitza Stark Gene: thsd4 has been classified as Green List (High Evidence).
Incidentalome v0.58 THSD4 Zornitza Stark gene: THSD4 was added
gene: THSD4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4 were set to 32855533
Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4 was set to GREEN
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.16 Zornitza Stark removed gene:THSD4-AS1 from the panel
Differences of Sex Development v0.186 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Differences of Sex Development v0.186 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.185 TSPYL1 Zornitza Stark reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600, 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800), sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6035 TSPYL1 Zornitza Stark Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome (MIM#608800) to Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Mendeliome v0.6034 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to 15273283; 19463995; 22137496; 25449952; 16418600
Mendeliome v0.6033 TSPYL1 Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence)
Mendeliome v0.6033 TSPYL1 Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Genetic Epilepsy v0.1003 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1002 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Dystonia and Chorea v0.163 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.162 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Cataract v0.259 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.259 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.258 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Microcephaly v0.520 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Microcephaly v0.520 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Microcephaly v0.520 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Microcephaly v0.520 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Microcephaly v0.519 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3384 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3383 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.

- PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Mendeliome v0.6032 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Mendeliome v0.6031 ZNF526 Zornitza Stark Publications for gene: ZNF526 were set to
Mendeliome v0.6030 ZNF526 Zornitza Stark Mode of inheritance for gene: ZNF526 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6029 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Mendeliome v0.6029 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 30489636; 30042186
Phenotypes for gene: XRCC2 were set to Premature ovarian failure 17, MIM# 619146; Spermatogenic failure, MIM# 619145
Review for gene: XRCC2 was set to RED
Added comment: One individual reported with POF and bi-allelic variants in her gene. Her brother had spermatogenic failure, and one additional family reported with spermatogenic failure.
Sources: Expert list
Incidentalome v0.57 CCNF Zornitza Stark Marked gene: CCNF as ready
Incidentalome v0.57 CCNF Zornitza Stark Gene: ccnf has been classified as Green List (High Evidence).
Incidentalome v0.57 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Incidentalome v0.56 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.118 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Motor Neurone Disease v0.117 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.132 CCNF Zornitza Stark Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Early-onset Dementia v0.131 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: None
Motor Neurone Disease v0.117 TIA1 Zornitza Stark Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133
Motor Neurone Disease v0.116 TIA1 Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6028 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mendeliome v0.6027 CYLD Zornitza Stark reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.131 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from Frontotemporal dementia; Amyotrophic lateral sclerosis to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Early-onset Dementia v0.130 CYLD Zornitza Stark edited their review of gene: CYLD: Changed phenotypes: Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Syndromic Retinopathy v0.157 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.156 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Cohort of 20 individuals with a complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Hereditary Neuropathy v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.100 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025; 26497905; 26659848
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Deafness_IsolatedAndComplex v1.45 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Deafness_IsolatedAndComplex v1.44 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Mendeliome v0.6027 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Mendeliome v0.6026 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Intellectual disability syndromic and non-syndromic v0.3382 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3381 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090, Intellectual disability
Mendeliome v0.6026 PPP2R5D Elena Savva reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32074998, 26168268; Phenotypes: Mental retardation, autosomal dominant 35, MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.6026 KAT6B Elena Savva reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22715153, 32424177; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.6026 DVL1 Kristin Rigbye reviewed gene: DVL1: 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: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.6026 ZFP36L1 Sebastian Lunke reviewed gene: ZFP36L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss Deleted their review
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss changed review comment from: An additional four unrelated patients with the previously reported missense variant de
novo SCAMP5 variant (p. Gly180Trp) from three countries,
including detailed descriptions of initial clinical presentations
and long-term follow-up (ranged from 1 to 33 years).

: Epilepsy, severe developmental delay, abnormal neurological exam findings,
with or without ASD or variably dysmorphic features and were common in patients with
SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI
findings were not consistent, but diverse and nonspecific. The motor ability of patients with
Edited by:
Tieliu Shi,
East China Normal University, China
Reviewed by:
Juliet Taylor,
The University of Melbourne, Australia
Chin Moi Chow,
The University of Sydney, Australia
*Correspondence:
Xiaodong Wang
xdwang@ciphergene.com
Zhixian Yang
zhixian.yang@163.com
Specialty section:
This article was submitted to
Translational Pharmacology,
a section of the journal
Frontiers in Pharmacology
Received: 26 August 2020
Accepted: 11 November 2020
Published: 18 December 2020
Citation:
Jiao X, Morleo M, Nigro V, Torella A,
D’Arrigo S, Ciaccio C, Pantaleoni C,
Gong P, Grand K, Sanchez-Lara PA,
Krier J, Fieg E, Stergachis A, Wang X
and Yang Z (2020) Identification of an
Identical de Novo SCAMP5 Missense
Variant in Four Unrelated Patients With
Seizures and Severe
Neurodevelopmental Delay.
Front. Pharmacol. 11:599191.
doi: 10.3389/fphar.2020.599191
Frontiers in Pharmacology | www.frontiersin.org 1 December 2020 | Volume 11 | Article 599191
ORIGINAL RESEARCH
published: 18 December 2020
doi: 10.3389/fphar.2020.599191
heterozygous SCAMP5 variant might have a regressive course; language development
was more severely affected.; to: An additional four unrelated patients with the previously reported missense variant de
novo SCAMP5 variant (p. Gly180Trp) from three countries,
including detailed descriptions of initial clinical presentations
and long-term follow-up (ranged from 1 to 33 years).

Epilepsy, severe developmental delay, abnormal neurological exam findings,
with or without ASD or variably dysmorphic features and were common in patients with
SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI
findings were not consistent, but diverse and nonspecific.
heterozygous SCAMP5 variant might have a regressive course.
Genetic Epilepsy v0.1001 SCAMP5 Emma Goss reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.15 THSD4 Chirag Patel Classified gene: THSD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.15 THSD4 Chirag Patel Gene: thsd4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.14 THSD4 Chirag Patel Classified gene: THSD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.14 THSD4 Chirag Patel Gene: thsd4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.13 THSD4 Chirag Patel gene: THSD4 was added
gene: THSD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4 were set to PMID: 32855533
Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4 was set to GREEN
gene: THSD4 was marked as current diagnostic
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.12 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Red List (low evidence)
Aortopathy_Connective Tissue Disorders v1.12 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel reviewed gene: THSD4-AS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Deleted their review
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Classified gene: THSD4-AS1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.11 THSD4-AS1 Chirag Patel Gene: thsd4-as1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.10 THSD4-AS1 Chirag Patel gene: THSD4-AS1 was added
gene: THSD4-AS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: THSD4-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THSD4-AS1 were set to PMID: 32855533
Phenotypes for gene: THSD4-AS1 were set to Thoracic aortic aneurysm and dissection (TAAD)
Review for gene: THSD4-AS1 was set to GREEN
gene: THSD4-AS1 was marked as current diagnostic
Added comment: 5 functional heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Mendeliome v0.6026 TSPYL1 Eleanor Williams reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6026 ZNF526 Arina Puzriakova reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25558065, 33397746; Phenotypes: Intellectual disability, Microcephaly, Cataracts, Epilepsy, Hypertonia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.129 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Autism v0.129 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6026 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6026 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Mendeliome v0.6026 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Mendeliome v0.6025 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Mendeliome v0.6025 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000
Mendeliome v0.6024 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Mendeliome v0.6023 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease
Mendeliome v0.6022 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed publications: 26563427, 24172246, 17314340
Mendeliome v0.6022 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6022 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mendeliome v0.6022 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mendeliome v0.6022 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5 MIM#611719; Ovarian dysgenesis 7 MIM#618117
Mendeliome v0.6021 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mendeliome v0.6020 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.0 Zornitza Stark promoted panel to version 1.0
Congenital ophthalmoplegia v0.93 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.6019 KRT10 Elena Savva reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26176760, 20798280, 31638346, 18219278, 16505000; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis with confetti, MIM#609165, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 BRPF1 Elena Savva reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32652122, 27939640; Phenotypes: Intellectual developmental disorder with dysmorphic facies and ptosis MIM#617333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autism v0.128 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6019 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.6019 BCS1L Elena Savva reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17314340; Phenotypes: Bjornstad syndrome MIM#262000, GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type MIM#1124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.6019 MRPS22 Elena Savva reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Classified gene: NUDT2 as Green List (high evidence)
Hereditary Neuropathy v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.98 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy
Review for gene: NUDT2 was set to GREEN
Added comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Sources: Literature
Incidentalome v0.56 UQCRC1 Zornitza Stark Marked gene: UQCRC1 as ready
Incidentalome v0.56 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.56 UQCRC1 Zornitza Stark Classified gene: UQCRC1 as Amber List (moderate evidence)
Incidentalome v0.56 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.55 UQCRC1 Zornitza Stark gene: UQCRC1 was added
gene: UQCRC1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were set to Parkinson's disease
Review for gene: UQCRC1 was set to AMBER
Added comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Marked gene: UQCRC1 as ready
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Classified gene: UQCRC1 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.94 UQCRC1 Zornitza Stark Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.93 UQCRC1 Zornitza Stark gene: UQCRC1 was added
gene: UQCRC1 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were set to Parkinson's disease
Review for gene: UQCRC1 was set to AMBER
Added comment: Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3381 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3380 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Genetic Epilepsy v0.1001 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1000 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Mendeliome v0.6019 CELF2 Zornitza Stark Marked gene: CELF2 as ready
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6019 CELF2 Zornitza Stark Classified gene: CELF2 as Green List (high evidence)
Mendeliome v0.6019 CELF2 Zornitza Stark Gene: celf2 has been classified as Green List (High Evidence).
Mendeliome v0.6018 CELF2 Zornitza Stark gene: CELF2 was added
gene: CELF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy
Review for gene: CELF2 was set to GREEN
Added comment: Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Genetic Epilepsy v0.999 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.998 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3379 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3378 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay. The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.6017 FGF13 Zornitza Stark Marked gene: FGF13 as ready
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6017 FGF13 Zornitza Stark Classified gene: FGF13 as Green List (high evidence)
Mendeliome v0.6017 FGF13 Zornitza Stark Gene: fgf13 has been classified as Green List (High Evidence).
Mendeliome v0.6016 FGF13 Zornitza Stark gene: FGF13 was added
gene: FGF13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to Intellectual disability; epilepsy
Mode of pathogenicity for gene: FGF13 was set to Other
Review for gene: FGF13 was set to GREEN
Added comment: Two sibling pairs and three unrelated males reported who presented in infancy with intractable focal seizures and severe developmental delay.

The variants were located in the N-terminal domain of the A isoform of FGF13/FHF2 (FHF2A). The X-linked FHF2 gene (also known as FGF13) has alternative first exons which produce multiple protein isoforms that differ in their N-terminal sequence. The variants were located at highly conserved residues in the FHF2A inactivation particle that competes with the intrinsic fast inactivation mechanism of Nav channels. Functional characterization of mutant FHF2A co-expressed with wild-type Nav1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. These gain-of-function effects are likely to increase neuronal excitability consistent with the epileptic potential of FHF2 variants.
Sources: Literature
Mendeliome v0.6015 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Mendeliome v0.6015 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Mendeliome v0.6015 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Skeletal dysplasia v0.72 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.71 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.6014 SCUBE3 Zornitza Stark changed review comment from: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature; to: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.
Sources: Literature
Mendeliome v0.6014 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature; skeletal abnormalities; craniofacial abnormalities; dental anomalies
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.
Sources: Literature
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Congenital Heart Defect v0.86 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.85 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Genetic Epilepsy v0.997 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.996 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3377 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3376 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Mendeliome v0.6013 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6013 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Mendeliome v0.6013 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Mendeliome v0.6012 UBR7 Zornitza Stark gene: UBR7 was added
gene: UBR7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features
Review for gene: UBR7 was set to GREEN
Added comment: Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Marked gene: RALGAPB as ready
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Gene: ralgapb has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Classified gene: RALGAPB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3375 RALGAPB Zornitza Stark Gene: ralgapb has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.158 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3374 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.232 RNU7-1 Zornitza Stark reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi–Goutières syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.232 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.232 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6011 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Mendeliome v0.6011 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Mendeliome v0.6011 RNU7-1 Zornitza Stark Phenotypes for gene: RNU7-1 were changed from PMID: 33230297 to Aicardi–Goutières syndrome-like
Mendeliome v0.6010 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Mendeliome v0.6010 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Brain Calcification v1.5 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Brain Calcification v1.5 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Brain Calcification v1.5 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Brain Calcification v1.5 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.84 Zornitza Stark removed gene:RPL3L from the panel
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3373 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Brain Calcification v1.4 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Brain Calcification v1.4 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Brain Calcification v1.4 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Brain Calcification v1.4 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Amber List (moderate evidence)
Dystonia and Chorea v0.161 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.160 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 33236446
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness; early onset dystonia
Review for gene: EIF2AK2 was set to AMBER
Added comment: 10 individuals reported with complex neurological phenotype including ataxia and spasticity.

Additional report in PMID 33236446 of same missense variant, p.Gly130Arg segregating with disease in 5 individuals from one family, and occurring de novo in another individual with prominent, early-onset dystonia. One more individual identified with a homozygous variant and dystonia. Some functional data to support variant pathogenicity. Three of the individuals had additional neurological features including ID.
Sources: Expert Review
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Leukodystrophy v0.212 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Leukodystrophy v0.211 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Two additional individuals reported in DOI: https://doi.org/10.1212/NXG.0000000000000539 to add to previous 8. Complex neurological phenotype includes white matter abnormalities, described as Pelizaeus-Merzbacher-like.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Marked gene: DPH2 as ready
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Gene: dph2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Classified gene: DPH2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3372 DPH2 Zornitza Stark Gene: dph2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.44 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Marked gene: CDH1 as ready
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Classified gene: CDH1 as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Added comment: Comment on list classification: Needs review by PreGen committee - a cause for syndromic Clefting but also for later onset gastric cancer with incomplete overlap of gen phen correlations
Incidentalome_PREGEN_DRAFT v0.14 CDH1 Tony Roscioli Gene: cdh1 has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.13 FGFR3 Tony Roscioli Classified gene: FGFR3 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.13 FGFR3 Tony Roscioli Gene: fgfr3 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.12 FGFR3 Tony Roscioli reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Classified gene: TRIM27 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder so should be removed from the incidentalome panel
Incidentalome_PREGEN_DRAFT v0.12 TRIM27 Tony Roscioli Gene: trim27 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.11 TRIM27 Tony Roscioli reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Classified gene: TRIM33 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Added comment: Comment on list classification: Not a clear cause of a Mendelian disorder and so should be removed from the incidentalome gene panel
Incidentalome_PREGEN_DRAFT v0.11 TRIM33 Tony Roscioli Gene: trim33 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.10 TRIM33 Tony Roscioli reviewed gene: TRIM33: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.10 TYROBP Tony Roscioli reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Marked gene: VCP as ready
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Added comment: Comment when marking as ready: Some evidence for AD CMT 2Y, but only a few families
Major phenotype for gene is an adult onset dementia
Should be kept in the PreGen incidentalome gene list
Incidentalome_PREGEN_DRAFT v0.10 VCP Tony Roscioli Gene: vcp has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Classified gene: VHL as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Added comment: Comment on list classification: Requires review by PreGen committee
Incidentalome_PREGEN_DRAFT v0.10 VHL Tony Roscioli Gene: vhl has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Classified gene: VHL as Amber List (moderate evidence)
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Added comment: Comment on list classification: Needs discussion by PreGen Committee
Incidentalome_PREGEN_DRAFT v0.9 VHL Tony Roscioli Gene: vhl has been classified as Amber List (Moderate Evidence).
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Marked gene: WT1 as ready
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Gene: wt1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Classified gene: WT1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.8 WT1 Tony Roscioli Gene: wt1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.7 WT1 Tony Roscioli reviewed gene: WT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.7 ZBTB16 Tony Roscioli Classified gene: ZBTB16 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.7 ZBTB16 Tony Roscioli Gene: zbtb16 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.6 ZBTB16 Tony Roscioli reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6009 RABL2A Zornitza Stark Marked gene: RABL2A as ready
Mendeliome v0.6009 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6009 RABL2A Zornitza Stark Publications for gene: RABL2A were set to 33075816
Mendeliome v0.6008 RABL2A Zornitza Stark Mode of inheritance for gene: RABL2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6007 RABL2A Zornitza Stark Classified gene: RABL2A as Red List (low evidence)
Mendeliome v0.6007 RABL2A Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence).
Mendeliome v0.6006 RABL2A Zornitza Stark reviewed gene: RABL2A: Rating: RED; Mode of pathogenicity: None; Publications: 24825419; Phenotypes: Male infertility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.54 NF2 Zornitza Stark Marked gene: NF2 as ready
Incidentalome v0.54 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Incidentalome v0.54 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000
Incidentalome v0.53 NF2 Zornitza Stark Publications for gene: NF2 were set to
Incidentalome v0.52 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.51 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6006 AKT1 Zornitza Stark Classified gene: AKT1 as Green List (high evidence)
Mendeliome v0.6006 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Mendeliome v0.6005 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21793738; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6005 CEP250 Zornitza Stark Marked gene: CEP250 as ready
Mendeliome v0.6005 CEP250 Zornitza Stark Gene: cep250 has been classified as Green List (High Evidence).
Mendeliome v0.6005 CEP250 Zornitza Stark Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, MIM# 618358
Mendeliome v0.6004 CEP250 Zornitza Stark Publications for gene: CEP250 were set to
Mendeliome v0.6003 CEP250 Zornitza Stark Mode of inheritance for gene: CEP250 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 CEP250 Zornitza Stark reviewed gene: CEP250: Rating: GREEN; Mode of pathogenicity: None; Publications: 24780881, 29718797, 30459346; Phenotypes: Cone-rod dystrophy and hearing loss 2, MIM# 618358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6002 RABL2A Eleanor Williams gene: RABL2A was added
gene: RABL2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABL2A was set to Unknown
Publications for gene: RABL2A were set to 33075816
Phenotypes for gene: RABL2A were set to male infertility; ciliopathy
Review for gene: RABL2A was set to RED
Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus.
Sources: Literature
Incidentalome v0.51 NF2 Eleanor Williams reviewed gene: NF2: Rating: ; Mode of pathogenicity: None; Publications: 33075808; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.6002 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.30 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.29 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.28 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.28 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
Mendeliome v0.6002 VCAN Zornitza Stark Marked gene: VCAN as ready
Mendeliome v0.6002 VCAN Zornitza Stark Gene: vcan has been classified as Green List (High Evidence).
Mendeliome v0.6002 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Mendeliome v0.6001 VCAN Zornitza Stark Publications for gene: VCAN were set to
Mendeliome v0.6000 VCAN Zornitza Stark Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 VCAN Zornitza Stark reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16877430, 22739342, 16636652, 16043844, 32854301, 30657523, 30055036, 29071374, 27667122; Phenotypes: Wagner syndrome 1, MIM# 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.19 VCAN Zornitza Stark Marked gene: VCAN as ready
Vitreoretinopathy v0.19 VCAN Zornitza Stark Gene: vcan has been classified as Green List (High Evidence).
Vitreoretinopathy v0.19 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Vitreoretinopathy v0.18 VCAN Zornitza Stark Publications for gene: VCAN were set to
Vitreoretinopathy v0.17 VCAN Zornitza Stark Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.16 VCAN Zornitza Stark Tag SV/CNV tag was added to gene: VCAN.
Vitreoretinopathy v0.16 VCAN Zornitza Stark reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16877430, 22739342, 16636652, 16043844, 32854301, 30657523, 30055036, 29071374, 27667122; Phenotypes: Wagner syndrome 1, MIM# 143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Marked gene: ZNF408 as ready
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Gene: znf408 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.16 ZNF408 Zornitza Stark Phenotypes for gene: ZNF408 were changed from to Exudative vitreoretinopathy 6, MIM# 616468
Vitreoretinopathy v0.15 ZNF408 Zornitza Stark Publications for gene: ZNF408 were set to
Vitreoretinopathy v0.14 ZNF408 Zornitza Stark Mode of inheritance for gene: ZNF408 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.13 ZNF408 Zornitza Stark reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: None; Publications: 23716654, 32530348, 32097476, 32238352, 30998249, 29982478; Phenotypes: Exudative vitreoretinopathy 6, MIM# 616468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5999 CAPN5 Zornitza Stark Marked gene: CAPN5 as ready
Mendeliome v0.5999 CAPN5 Zornitza Stark Gene: capn5 has been classified as Green List (High Evidence).
Mendeliome v0.5999 CAPN5 Zornitza Stark Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Mendeliome v0.5998 CAPN5 Zornitza Stark Publications for gene: CAPN5 were set to
Mendeliome v0.5997 CAPN5 Zornitza Stark Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5996 CAPN5 Zornitza Stark reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23055945, 32274441, 31110225, 30986125; Phenotypes: Vitreoretinopathy, neovascular inflammatory, MIM# 193235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Marked gene: CAPN5 as ready
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Gene: capn5 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.13 CAPN5 Zornitza Stark Phenotypes for gene: CAPN5 were changed from to Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Vitreoretinopathy v0.12 CAPN5 Zornitza Stark Publications for gene: CAPN5 were set to
Vitreoretinopathy v0.11 CAPN5 Zornitza Stark Mode of inheritance for gene: CAPN5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vitreoretinopathy v0.10 CAPN5 Zornitza Stark reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23055945, 32274441, 31110225, 30986125; Phenotypes: Vitreoretinopathy, neovascular inflammatory, MIM# 193235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v1.0 Zornitza Stark promoted panel to version 1.0
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Marked gene: UBIAD1 as ready
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Gene: ubiad1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from Corneal dystrophy, Schnyder type, MIM# 121800 to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5996 UBIAD1 Zornitza Stark Marked gene: UBIAD1 as ready
Mendeliome v0.5996 UBIAD1 Zornitza Stark Gene: ubiad1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.77 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5996 UBIAD1 Zornitza Stark Phenotypes for gene: UBIAD1 were changed from to Corneal dystrophy, Schnyder type, MIM# 121800
Mendeliome v0.5995 UBIAD1 Zornitza Stark Publications for gene: UBIAD1 were set to
Mendeliome v0.5994 UBIAD1 Zornitza Stark Mode of inheritance for gene: UBIAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 UBIAD1 Zornitza Stark reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18176953, 23169578, 31323021, 30785396, 30223810; Phenotypes: Corneal dystrophy, Schnyder type, MIM# 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.76 UBIAD1 Zornitza Stark Publications for gene: UBIAD1 were set to
Corneal Dystrophy v0.75 UBIAD1 Zornitza Stark Mode of inheritance for gene: UBIAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.74 UBIAD1 Zornitza Stark reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18176953, 23169578, 31323021, 30785396, 30223810; Phenotypes: Corneal dystrophy, Schnyder type, MIM# 121800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5993 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Mendeliome v0.5993 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Mendeliome v0.5993 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Mendeliome v0.5992 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Mendeliome v0.5991 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.73 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Corneal Dystrophy v0.72 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.71 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.71 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267
Corneal Dystrophy v0.70 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Corneal Dystrophy v0.69 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.68 TCF4 Zornitza Stark Tag STR tag was added to gene: TCF4.
Corneal Dystrophy v0.68 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25722209; Phenotypes: Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5990 TACSTD2 Zornitza Stark Marked gene: TACSTD2 as ready
Mendeliome v0.5990 TACSTD2 Zornitza Stark Gene: tacstd2 has been classified as Green List (High Evidence).
Mendeliome v0.5990 TACSTD2 Zornitza Stark Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Mendeliome v0.5989 TACSTD2 Zornitza Stark Publications for gene: TACSTD2 were set to
Mendeliome v0.5988 TACSTD2 Zornitza Stark Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 TACSTD2 Zornitza Stark reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10192395, 12107443, 12614764, 31666974, 31534795; Phenotypes: Corneal dystrophy, gelatinous drop-like, MIM# 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Marked gene: TACSTD2 as ready
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Gene: tacstd2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.68 TACSTD2 Zornitza Stark Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Corneal Dystrophy v0.67 TACSTD2 Zornitza Stark Publications for gene: TACSTD2 were set to
Corneal Dystrophy v0.66 TACSTD2 Zornitza Stark Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.65 TACSTD2 Zornitza Stark reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10192395, 12107443, 12614764, 31666974, 31534795; Phenotypes: Corneal dystrophy, gelatinous drop-like, MIM# 204870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.65 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Corneal Dystrophy v0.64 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v0.63 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268, Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.63 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170
Corneal Dystrophy v0.62 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Corneal Dystrophy v0.61 PRDM5 Zornitza Stark Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.60 PRDM5 Zornitza Stark reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21664999, 22122778, 26395458, 33120686, 27032025; Phenotypes: Brittle cornea syndrome 2, MIM# 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5987 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5987 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Mendeliome v0.5987 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.245 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.245 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Mendeliome v0.5986 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Callosome v0.244 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Callosome v0.244 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Callosome v0.244 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.244 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities
Callosome v0.243 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Callosome v0.242 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.241 ZEB1 Zornitza Stark Classified gene: ZEB1 as Amber List (moderate evidence)
Callosome v0.241 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.240 ZEB1 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB1.
Callosome v0.240 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24780443, 28284480, 28742278; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141, Corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5986 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Mendeliome v0.5986 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Green List (High Evidence).
Mendeliome v0.5986 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Mendeliome v0.5985 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Mendeliome v0.5984 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16252232, 20036349, 26622166; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.60 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
Corneal Dystrophy v0.59 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Corneal Dystrophy v0.58 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.57 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16252232, 20036349, 26622166; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5983 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Mendeliome v0.5983 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Mendeliome v0.5983 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from to Brittle cornea syndrome 1, MIM# 229200
Mendeliome v0.5982 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Mendeliome v0.5981 ZNF469 Zornitza Stark Mode of inheritance for gene: ZNF469 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 ZNF469 Zornitza Stark reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452888, 19661234, 20938016, 21664999, 32671420; Phenotypes: Brittle cornea syndrome 1, MIM# 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Gene: znf469 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.57 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from to Brittle cornea syndrome 1, MIM# 229200
Corneal Dystrophy v0.56 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Corneal Dystrophy v0.55 ZNF469 Zornitza Stark Mode of inheritance for gene: ZNF469 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.54 ZNF469 Zornitza Stark reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452888, 19661234, 20938016, 21664999, 32671420; Phenotypes: Brittle cornea syndrome 1, MIM# 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5980 PIKFYVE Zornitza Stark Marked gene: PIKFYVE as ready
Mendeliome v0.5980 PIKFYVE Zornitza Stark Gene: pikfyve has been classified as Green List (High Evidence).
Mendeliome v0.5980 PIKFYVE Zornitza Stark Phenotypes for gene: PIKFYVE were changed from to Corneal fleck dystrophy, MIM# 121850
Mendeliome v0.5979 PIKFYVE Zornitza Stark Publications for gene: PIKFYVE were set to
Mendeliome v0.5978 PIKFYVE Zornitza Stark Mode of inheritance for gene: PIKFYVE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 PIKFYVE Zornitza Stark reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: None; Publications: 15902656, 23288988, 26396486; Phenotypes: Corneal fleck dystrophy, MIM# 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Marked gene: PIKFYVE as ready
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Gene: pikfyve has been classified as Green List (High Evidence).
Corneal Dystrophy v0.54 PIKFYVE Zornitza Stark Phenotypes for gene: PIKFYVE were changed from to Corneal fleck dystrophy, MIM# 121850
Corneal Dystrophy v0.53 PIKFYVE Zornitza Stark Publications for gene: PIKFYVE were set to
Corneal Dystrophy v0.52 PIKFYVE Zornitza Stark Mode of inheritance for gene: PIKFYVE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.51 PIKFYVE Zornitza Stark reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: None; Publications: 15902656, 23288988, 26396486; Phenotypes: Corneal fleck dystrophy, MIM# 121850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5977 OVOL2 Zornitza Stark Marked gene: OVOL2 as ready
Mendeliome v0.5977 OVOL2 Zornitza Stark Gene: ovol2 has been classified as Green List (High Evidence).
Mendeliome v0.5977 OVOL2 Zornitza Stark Phenotypes for gene: OVOL2 were changed from to Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Mendeliome v0.5976 OVOL2 Zornitza Stark Publications for gene: OVOL2 were set to
Mendeliome v0.5975 OVOL2 Zornitza Stark Tag 5'UTR tag was added to gene: OVOL2.
Mendeliome v0.5975 OVOL2 Zornitza Stark Mode of inheritance for gene: OVOL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 OVOL2 Zornitza Stark reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26749309; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, MIM# 122000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Marked gene: OVOL2 as ready
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Gene: ovol2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.51 OVOL2 Zornitza Stark Phenotypes for gene: OVOL2 were changed from to Corneal dystrophy, posterior polymorphous, 1, MIM# 122000
Corneal Dystrophy v0.50 OVOL2 Zornitza Stark Publications for gene: OVOL2 were set to
Corneal Dystrophy v0.49 OVOL2 Zornitza Stark Mode of inheritance for gene: OVOL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.48 OVOL2 Zornitza Stark Tag 5'UTR tag was added to gene: OVOL2.
Corneal Dystrophy v0.48 OVOL2 Zornitza Stark reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26749309; Phenotypes: Corneal dystrophy, posterior polymorphous, 1, MIM# 122000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5974 KRT3 Zornitza Stark Marked gene: KRT3 as ready
Mendeliome v0.5974 KRT3 Zornitza Stark Gene: krt3 has been classified as Green List (High Evidence).
Mendeliome v0.5974 KRT3 Zornitza Stark Phenotypes for gene: KRT3 were changed from to Meesmann corneal dystrophy 2, MIM# 618767
Mendeliome v0.5973 KRT3 Zornitza Stark Publications for gene: KRT3 were set to
Mendeliome v0.5972 KRT3 Zornitza Stark Mode of inheritance for gene: KRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 KRT3 Zornitza Stark reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 16227835, 18806880, 26788030; Phenotypes: Meesmann corneal dystrophy 2, MIM# 618767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 DCN Zornitza Stark Marked gene: DCN as ready
Mendeliome v0.5971 DCN Zornitza Stark Gene: dcn has been classified as Green List (High Evidence).
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Marked gene: KRT3 as ready
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Gene: krt3 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.48 KRT3 Zornitza Stark Phenotypes for gene: KRT3 were changed from to Meesmann corneal dystrophy 2, MIM# 618767
Corneal Dystrophy v0.47 KRT3 Zornitza Stark Publications for gene: KRT3 were set to
Corneal Dystrophy v0.46 KRT3 Zornitza Stark Mode of inheritance for gene: KRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.45 KRT3 Zornitza Stark reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 16227835, 18806880, 26788030; Phenotypes: Meesmann corneal dystrophy 2, MIM# 618767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5971 DCN Zornitza Stark Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Mendeliome v0.5970 DCN Zornitza Stark Publications for gene: DCN were set to
Mendeliome v0.5969 DCN Zornitza Stark Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 DCN Zornitza Stark reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671264, 16935612, 21993463, 24413633, 26828927; Phenotypes: Corneal dystrophy, congenital stromal, MIM# 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.44 DCN Zornitza Stark Marked gene: DCN as ready
Corneal Dystrophy v0.44 DCN Zornitza Stark Gene: dcn has been classified as Green List (High Evidence).
Corneal Dystrophy v0.44 DCN Zornitza Stark Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Corneal Dystrophy v0.43 DCN Zornitza Stark Publications for gene: DCN were set to
Corneal Dystrophy v0.42 DCN Zornitza Stark Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.41 DCN Zornitza Stark reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671264, 16935612, 21993463, 24413633, 26828927; Phenotypes: Corneal dystrophy, congenital stromal, MIM# 610048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5968 COL8A2 Zornitza Stark Marked gene: COL8A2 as ready
Mendeliome v0.5968 COL8A2 Zornitza Stark Gene: col8a2 has been classified as Green List (High Evidence).
Mendeliome v0.5968 COL8A2 Zornitza Stark Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Mendeliome v0.5967 COL8A2 Zornitza Stark Publications for gene: COL8A2 were set to
Mendeliome v0.5966 COL8A2 Zornitza Stark Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5965 COL8A2 Zornitza Stark reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11689488, 15914606, 18024822, 18464802; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800, Corneal dystrophy, posterior polymorphous 2, MIM# 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Marked gene: COL8A2 as ready
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Gene: col8a2 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.41 COL8A2 Zornitza Stark Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140
Corneal Dystrophy v0.40 COL8A2 Zornitza Stark Publications for gene: COL8A2 were set to
Corneal Dystrophy v0.39 COL8A2 Zornitza Stark Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.38 COL8A2 Zornitza Stark reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11689488, 15914606, 18024822, 18464802; Phenotypes: Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800, Corneal dystrophy, posterior polymorphous 2, MIM# 609140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.38 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epithelial recurrent erosion dystrophy, MIM# 122400
Corneal Dystrophy v0.37 COL17A1 Zornitza Stark Publications for gene: COL17A1 were set to
Corneal Dystrophy v0.36 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.35 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27309958, 29708937, 25676728; Phenotypes: Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Usher Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Congenital Diarrhoea v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5965 STX3 Zornitza Stark Marked gene: STX3 as ready
Mendeliome v0.5965 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Mendeliome v0.5965 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Marked gene: STX3 as ready
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence).
Mendeliome v0.5964 STX3 Zornitza Stark Publications for gene: STX3 were set to
Congenital Diarrhoea v0.102 STX3 Zornitza Stark Phenotypes for gene: STX3 were changed from to Microvillus inclusion disease
Mendeliome v0.5963 STX3 Zornitza Stark Mode of inheritance for gene: STX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.101 STX3 Zornitza Stark Publications for gene: STX3 were set to
Congenital Diarrhoea v0.100 STX3 Zornitza Stark Mode of inheritance for gene: STX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.99 STX3 Zornitza Stark reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24726755, 29266534, 25358429, 29282386, 30909251, 29282386; Phenotypes: Microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5962 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Mendeliome v0.5962 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Mendeliome v0.5962 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic 270420
Mendeliome v0.5961 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Mendeliome v0.5960 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5959 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.99 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from to Diarrhoea 3, secretory sodium, congenital, syndromic 270420
Congenital Diarrhoea v0.98 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Congenital Diarrhoea v0.97 SPINT2 Zornitza Stark Mode of inheritance for gene: SPINT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340, 30445423; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic 270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Mendeliome v0.5959 SLC9A3 Zornitza Stark Marked gene: SLC9A3 as ready
Mendeliome v0.5959 SLC9A3 Zornitza Stark Gene: slc9a3 has been classified as Green List (High Evidence).
Mendeliome v0.5959 SLC9A3 Zornitza Stark Phenotypes for gene: SLC9A3 were changed from to Diarrhoea 8, secretory sodium, congenital 616868
Mendeliome v0.5958 SLC9A3 Zornitza Stark Publications for gene: SLC9A3 were set to
Mendeliome v0.5957 SLC9A3 Zornitza Stark Mode of inheritance for gene: SLC9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.96 SLC9A3 Zornitza Stark Phenotypes for gene: SLC9A3 were changed from to Diarrhoea 8, secretory sodium, congenital 616868
Mendeliome v0.5956 SLC9A3 Zornitza Stark reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773; Phenotypes: Diarrhoea 8, secretory sodium, congenital 616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.95 SLC9A3 Zornitza Stark Publications for gene: SLC9A3 were set to
Congenital Diarrhoea v0.94 SLC9A3 Zornitza Stark Mode of inheritance for gene: SLC9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.93 SLC9A3 Zornitza Stark reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30633106, 31276831, 26358773; Phenotypes: Diarrhoea 8, secretory sodium, congenital 616868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.93 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Congenital Diarrhoea v0.92 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Congenital Diarrhoea v0.91 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.90 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.90 SLC5A1 Zornitza Stark Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824
Mendeliome v0.5956 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Mendeliome v0.5956 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Mendeliome v0.5956 SLC5A1 Zornitza Stark Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824
Mendeliome v0.5955 SLC5A1 Zornitza Stark Publications for gene: SLC5A1 were set to
Mendeliome v0.5954 SLC5A1 Zornitza Stark Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5953 SLC5A1 Zornitza Stark reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486940, 32946683; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.89 SLC5A1 Zornitza Stark Publications for gene: SLC5A1 were set to
Congenital Diarrhoea v0.88 SLC5A1 Zornitza Stark Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.87 SLC5A1 Zornitza Stark reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486940, 32946683; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.87 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, MIM# 201100
Mendeliome v0.5953 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Mendeliome v0.5953 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Mendeliome v0.5953 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, MIM# 201100
Mendeliome v0.5952 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Mendeliome v0.5951 SLC39A4 Zornitza Stark Mode of inheritance for gene: SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.86 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Mendeliome v0.5950 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.85 SLC39A4 Zornitza Stark Mode of inheritance for gene: SLC39A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.84 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.84 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
Congenital Diarrhoea v0.83 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Classified gene: SLC2A2 as Red List (low evidence)
Congenital Diarrhoea v0.82 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.81 SLC2A2 Zornitza Stark reviewed gene: SLC2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5950 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Mendeliome v0.5950 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Mendeliome v0.5950 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.81 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Mendeliome v0.5949 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Mendeliome v0.5948 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.80 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Mendeliome v0.5947 SLC26A3 Zornitza Stark reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.79 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.79 SLC26A3 Zornitza Stark Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.78 SLC26A3 Zornitza Stark reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5947 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Mendeliome v0.5947 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Mendeliome v0.5947 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.78 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Expert Review
Mendeliome v0.5946 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Mendeliome v0.5946 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5946 SLC10A2 Zornitza Stark Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291
Mendeliome v0.5945 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to
Mendeliome v0.5944 SLC10A2 Zornitza Stark Mode of inheritance for gene: SLC10A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5943 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Mendeliome v0.5943 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5942 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: RED; Mode of pathogenicity: None; Publications: 9109432; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.77 SLC10A2 Zornitza Stark Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291
Congenital Diarrhoea v0.76 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to
Congenital Diarrhoea v0.75 SLC10A2 Zornitza Stark Mode of inheritance for gene: SLC10A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Red List (low evidence)
Congenital Diarrhoea v0.74 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.73 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: RED; Mode of pathogenicity: None; Publications: 9109432; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.73 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from to Trichohepatoenteric syndrome 2, MIM# 614602
Congenital Diarrhoea v0.72 SKIV2L Zornitza Stark Publications for gene: SKIV2L were set to
Congenital Diarrhoea v0.71 SKIV2L Zornitza Stark Mode of inheritance for gene: SKIV2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.70 SKIV2L Zornitza Stark reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 33114497, 30397475, 29527791, 29484573; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5942 PLVAP Zornitza Stark Marked gene: PLVAP as ready
Mendeliome v0.5942 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Marked gene: SI as ready
Congenital Diarrhoea v0.70 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.70 SI Zornitza Stark Publications for gene: SI were set to
Congenital Diarrhoea v0.69 SI Zornitza Stark Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Congenital Diarrhoea v0.68 SI Zornitza Stark Mode of inheritance for gene: SI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SI Zornitza Stark reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Marked gene: SBDS as ready
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.67 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Congenital Diarrhoea v0.66 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.65 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.65 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from to Chylomicron retention disease, MIM# 246700
Congenital Diarrhoea v0.64 SAR1B Zornitza Stark Mode of inheritance for gene: SAR1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.63 SAR1B Zornitza Stark reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chylomicron retention disease, MIM# 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Marked gene: PRSS1 as ready
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.63 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Congenital Diarrhoea v0.62 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Congenital Diarrhoea v0.61 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.60 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22379635; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5942 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Mendeliome v0.5941 PLVAP Zornitza Stark Publications for gene: PLVAP were set to
Mendeliome v0.5940 PLVAP Zornitza Stark Mode of inheritance for gene: PLVAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Marked gene: PLVAP as ready
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Gene: plvap has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.60 PLVAP Zornitza Stark Phenotypes for gene: PLVAP were changed from to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Congenital Diarrhoea v0.59 PLVAP Zornitza Stark Publications for gene: PLVAP were set to
Congenital Diarrhoea v0.58 PLVAP Zornitza Stark Mode of inheritance for gene: PLVAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.57 PLVAP Zornitza Stark reviewed gene: PLVAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29875123, 29661969, 26207260, 31215290; Phenotypes: Diarrhea 10, protein-losing enteropathy type, MIM# 618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.57 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing, MIM# 600955
Congenital Diarrhoea v0.56 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Congenital Diarrhoea v0.55 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.54 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246; Phenotypes: Obesity with impaired prohormone processing, MIM# 600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from Diarrhea 4, malabsorptive, congenital to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Additional findings_Paediatric v0.192 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Classified gene: NEUROG3 as Green List (high evidence)
Additional findings_Paediatric v0.191 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5939 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Mendeliome v0.5939 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Mendeliome v0.5939 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Mendeliome v0.5938 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Mendeliome v0.5937 NEUROG3 Zornitza Stark Mode of inheritance for gene: NEUROG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5936 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.54 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
Congenital Diarrhoea v0.53 NEUROG3 Zornitza Stark Publications for gene: NEUROG3 were set to
Congenital Diarrhoea v0.52 NEUROG3 Zornitza Stark Mode of inheritance for gene: NEUROG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.51 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.51 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616
Congenital Diarrhoea v0.50 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Congenital Diarrhoea v0.49 GUCY2C Zornitza Stark 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
Congenital Diarrhoea v0.48 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.47 GUCY2C Zornitza Stark reviewed gene: GUCY2C: 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: 22521417, 22436048, 25994218, 30353760, 28957388; Phenotypes: Diarrhoea 6, MIM# 614616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Marked gene: TMPRSS15 as ready
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.47 TMPRSS15 Zornitza Stark Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Marked gene: TMPRSS15 as ready
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Gene: tmprss15 has been classified as Green List (High Evidence).
Mendeliome v0.5936 TMPRSS15 Zornitza Stark Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200
Mendeliome v0.5935 TMPRSS15 Zornitza Stark Publications for gene: TMPRSS15 were set to
Mendeliome v0.5934 TMPRSS15 Zornitza Stark Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.46 TMPRSS15 Zornitza Stark Publications for gene: TMPRSS15 were set to
Mendeliome v0.5933 TMPRSS15 Zornitza Stark reviewed gene: TMPRSS15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11719902, 33061943; Phenotypes: Enterokinase deficiency, MIM# 226200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.45 TMPRSS15 Zornitza Stark Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.44 TMPRSS15 Zornitza Stark reviewed gene: TMPRSS15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11719902, 33061943; Phenotypes: Enterokinase deficiency, MIM# 226200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5933 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Mendeliome v0.5933 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Mendeliome v0.5933 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Mendeliome v0.5932 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Mendeliome v0.5931 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.44 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470
Congenital Diarrhoea v0.43 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Congenital Diarrhoea v0.42 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.41 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5930 WNT2B Zornitza Stark Marked gene: WNT2B as ready
Mendeliome v0.5930 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Mendeliome v0.5930 WNT2B Zornitza Stark Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Mendeliome v0.5929 WNT2B Zornitza Stark Publications for gene: WNT2B were set to
Mendeliome v0.5928 WNT2B Zornitza Stark Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5927 WNT2B Zornitza Stark reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Marked gene: WNT2B as ready
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Gene: wnt2b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.41 WNT2B Zornitza Stark Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Congenital Diarrhoea v0.40 WNT2B Zornitza Stark Publications for gene: WNT2B were set to
Congenital Diarrhoea v0.39 WNT2B Zornitza Stark Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.38 WNT2B Zornitza Stark reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Classified gene: STXBP2 as Green List (high evidence)
Congenital Diarrhoea v0.38 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.37 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 23382066; 28724787; 29266534
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy
Review for gene: STXBP2 was set to GREEN
Added comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID.
Sources: Expert Review
Mendeliome v0.5927 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Mendeliome v0.5927 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Mendeliome v0.5927 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850; Cholestasis
Mendeliome v0.5926 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Mendeliome v0.5925 MYO5B Zornitza Stark Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 28027573, 27532546; Phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.36 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, MIM# 251850
Congenital Diarrhoea v0.35 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Congenital Diarrhoea v0.34 MYO5B Zornitza Stark Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.33 MYO5B Zornitza Stark reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, MIM# 200100 to Abetalipoproteinemia, MIM# 200100
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Marked gene: MTTP as ready
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.33 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from to Abetalipoproteinemia, MIM# 200100
Congenital Diarrhoea v0.32 MTTP Zornitza Stark Publications for gene: MTTP were set to
Congenital Diarrhoea v0.31 MTTP Zornitza Stark Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.30 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5924 LCT Zornitza Stark Marked gene: LCT as ready
Mendeliome v0.5924 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Mendeliome v0.5924 LCT Zornitza Stark Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
Mendeliome v0.5923 LCT Zornitza Stark Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5922 LCT Zornitza Stark reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.30 LCT Zornitza Stark Marked gene: LCT as ready
Congenital Diarrhoea v0.30 LCT Zornitza Stark Gene: lct has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.30 LCT Zornitza Stark Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
Congenital Diarrhoea v0.29 LCT Zornitza Stark Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.28 LCT Zornitza Stark reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3371 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Intellectual disability syndromic and non-syndromic v0.3371 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3371 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Intellectual disability syndromic and non-syndromic v0.3371 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Microcephaly v0.518 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Microcephaly v0.518 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.83 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Congenital Heart Defect v0.83 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5922 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Mendeliome v0.5922 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Classified gene: CAMK2B as Green List (high evidence)
Genetic Epilepsy v0.995 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.994 CAMK2B Zornitza Stark gene: CAMK2B was added
gene: CAMK2B was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 29100089; 29560374; 32875707
Phenotypes for gene: CAMK2B were set to Mental retardation, autosomal dominant 54, MIM# 617799
Review for gene: CAMK2B was set to GREEN
Added comment: More than 10 unrelated individuals reported, at least 5 had seizures.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3371 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799
Intellectual disability syndromic and non-syndromic v0.3370 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Intellectual disability syndromic and non-syndromic v0.3369 CAMK2B Zornitza Stark Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3368 CAMK2B Zornitza Stark reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5922 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Mendeliome v0.5922 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Mendeliome v0.5922 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from to Mental retardation, autosomal dominant 54, MIM# 617799
Mendeliome v0.5921 CAMK2B Zornitza Stark Publications for gene: CAMK2B were set to
Mendeliome v0.5920 CAMK2B Zornitza Stark Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5919 CAMK2B Zornitza Stark reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.164 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems
Microcephaly v0.518 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Microcephaly v0.518 CAMK2B Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence).
Microcephaly v0.518 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems
Brain Calcification v1.3 LSM11 Ee Ming Wong reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33230297; Phenotypes: type I interferonopathy Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Brain Calcification v1.3 LSM11 Ee Ming Wong Deleted their review
Brain Calcification v1.3 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Brain Calcification v1.3 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Brain Calcification. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to RED
Added comment: PMID: 32853829 - Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Sources: Literature
Dystonia and Chorea v0.159 RNU7-1 Sue White Classified gene: RNU7-1 as Green List (high evidence)
Dystonia and Chorea v0.159 RNU7-1 Sue White Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.230 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Regression. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to RED
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Regression v0.230 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Regression. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3368 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to RED
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Dystonia and Chorea v0.158 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5919 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Mendeliome v0.5919 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Marked gene: RPL3L as ready
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Congenital Heart Defect v0.83 RPL3L Elena Savva Deleted their review
Hereditary Spastic Paraplegia v0.157 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Classified gene: RALGAPB as Amber List (moderate evidence)
Genetic Epilepsy v0.993 RALGAPB Seb Lunke Gene: ralgapb has been classified as Amber List (Moderate Evidence).
Autism v0.128 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Autism v0.128 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.89 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: RPL3L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Mendeliome v0.5918 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Mendeliome v0.5918 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Mendeliome v0.5918 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.992 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to AMBER
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense, epilepsy only present in 2/10.
Sources: Literature
Autism v0.127 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Autism. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Mendeliome v0.5917 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Marked gene: WNK1 as ready
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Gene: wnk1 has been classified as Green List (High Evidence).
Mendeliome v0.5917 RPL3L Seb Lunke Marked gene: RPL3L as ready
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Mendeliome v0.5917 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Mendeliome v0.5917 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Microcephaly v0.517 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Microcephaly v0.517 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3368 FBRSL1 Sue White Classified gene: FBRSL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3368 FBRSL1 Sue White Gene: fbrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke changed review comment from: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.; to: Comment on list classification: Very little evidence at this stage, just one consanguineous family with some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Marked gene: LSM11 as ready
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Mendeliome v0.5916 LSM11 Seb Lunke Classified gene: LSM11 as Red List (low evidence)
Mendeliome v0.5916 LSM11 Seb Lunke Added comment: Comment on list classification: Very little evidence at this stage, just one consanguineous family with a some functional data.
Mendeliome v0.5916 LSM11 Seb Lunke Gene: lsm11 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.43 FBRSL1 Sue White reviewed gene: FBRSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3367 DPH2 Paul De Fazio gene: DPH2 was added
gene: DPH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH2 were set to 32576952; 27421267
Phenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome
Review for gene: DPH2 was set to AMBER
gene: DPH2 was marked as current diagnostic
Added comment: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)

Another family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Congenital Heart Defect v0.83 FBRSL1 Sue White Classified gene: FBRSL1 as Amber List (moderate evidence)
Congenital Heart Defect v0.83 FBRSL1 Sue White Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Marked gene: DPH2 as ready
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5915 DPH2 Seb Lunke Classified gene: DPH2 as Amber List (moderate evidence)
Mendeliome v0.5915 DPH2 Seb Lunke Gene: dph2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5914 RNU7-1 Ee Ming Wong changed review comment from: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature; to: - 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Mendeliome v0.5914 RNU7-1 Ee Ming Wong gene: RNU7-1 was added
gene: RNU7-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to PMID: 33230297
Phenotypes for gene: RNU7-1 were set to PMID: 33230297
Review for gene: RNU7-1 was set to GREEN
gene: RNU7-1 was marked as current diagnostic
Added comment: - 16 affected individuals from 11 families
- - Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Congenital Heart Defect v0.82 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Hypertension and Aldosterone disorders v0.18 WNK1 Teresa Zhao reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32790646; Phenotypes: Pseudohypoaldosteronism type IIC (MIM#614492), Hereditary sensory and autonomic type II neuropathy (MIM#201300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5914 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Mendeliome v0.5914 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to AMBER
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3367 EIF2AK2 Seb Lunke reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5914 DPH2 Paul De Fazio changed review comment from: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature; to: One 19 month old reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency (gross motor delay, not walking, fine motor and expressive language delays, macrocephaly)

Another family (sibs) was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative. Patients had ID and microcephaly (in contrast to the 19 month old above).

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Congenital Heart Defect v0.82 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Literature
Deafness_IsolatedAndComplex v1.43 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to AMBER
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: Literature
Mendeliome v0.5914 DPH2 Paul De Fazio gene: DPH2 was added
gene: DPH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH2 were set to 32576952; 27421267
Phenotypes for gene: DPH2 were set to Diphthamide-deficiency syndrome
Review for gene: DPH2 was set to AMBER
gene: DPH2 was marked as current diagnostic
Added comment: One family reported (PMID:32576952) with biallelic (one missense, one nonsense) variants in DPH2, with phenotype similar to DPH1 deficiency.

Another family was previously reported with biallelic nonsense variants (PMID:27421267) with a comparable phenotype, this family also has biallelic variants in KALRN and the authors thought those variants more likely causative.

In vitro functional assays support reduced diphthamide synthesis activity for the variants identified in PMID:32576952.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3367 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Microcephaly v0.516 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairment.
Supported by Xenopus oocyte functional studies
Sources: Literature
Mendeliome v0.5914 FBRSL1 Elena Savva gene: FBRSL1 was added
gene: FBRSL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBRSL1 were set to PMID: 32424618
Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome
Review for gene: FBRSL1 was set to GREEN
Added comment: Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Classified gene: CAMK2B as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.163 CAMK2B Sue White Gene: camk2b has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.162 CAMK2B Sue White gene: CAMK2B was added
gene: CAMK2B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 32875707
Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems
Review for gene: CAMK2B was set to GREEN
Added comment: A review of published patients with CAMK2B reported 3 patients with de novo variants and cerebellar atrophy.
Sources: Literature
Microcephaly v0.516 CAMK2B Sue White Classified gene: CAMK2B as Green List (high evidence)
Microcephaly v0.516 CAMK2B Sue White Gene: camk2b has been classified as Green List (High Evidence).
Microcephaly v0.515 CAMK2B Sue White gene: CAMK2B was added
gene: CAMK2B was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2B were set to 32875707
Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems
Review for gene: CAMK2B was set to GREEN
Added comment: 5 individuals in review of literature with same de novo monoallelic variant reported with microcephaly
Sources: Literature
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.28 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790
Congenital Diarrhoea v0.27 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Diarrhoea v0.26 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.26 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Mendeliome v0.5914 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Mendeliome v0.5914 EPCAM Zornitza Stark Gene: epcam has been classified as Green List (High Evidence).
Mendeliome v0.5914 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Mendeliome v0.5913 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Mendeliome v0.5912 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.25 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Mendeliome v0.5911 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.24 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.23 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5911 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Mendeliome v0.5911 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Mendeliome v0.5911 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Mendeliome v0.5910 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Mendeliome v0.5909 DGAT1 Zornitza Stark Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5908 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.23 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863
Congenital Diarrhoea v0.22 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Congenital Diarrhoea v0.21 DGAT1 Zornitza Stark Mode of inheritance for gene: DGAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.20 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Marked gene: CFTR as ready
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.20 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Congenital Diarrhoea v0.19 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.18 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.18 APOB Zornitza Stark Marked gene: APOB as ready
Congenital Diarrhoea v0.18 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.18 APOB Zornitza Stark Phenotypes for gene: APOB were changed from to Hypobetalipoproteinemia, MIM# 615558
Congenital Diarrhoea v0.17 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.16 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypobetalipoproteinemia, MIM# 615558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.16 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Diarrhoea v0.15 AIRE Zornitza Stark edited their review of gene: AIRE: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Marked gene: AIRE as ready
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.15 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Congenital Diarrhoea v0.14 AIRE Zornitza Stark Publications for gene: AIRE were set to
Congenital Diarrhoea v0.13 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Diarrhoea v0.12 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9398839, 9837820, 16965330; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: None
Central Hypoventilation v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5908 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Mendeliome v0.5908 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5908 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Mendeliome v0.5907 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Mendeliome v0.5906 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5905 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Mendeliome v0.5905 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5904 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease: variants reported have high frequency in gnomad, not in keeping with Mendelian disorder.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.992 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.990 CPA6 Zornitza Stark changed review comment from: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.; to: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Present in gnomad as hets but no homs. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.
Genetic Epilepsy v0.990 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.990 CPA6 Elena Savva reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:25875328, 21922598, 23105115, 32207733; Phenotypes: Epilepsy, familial temporal lobe, 5 MIM#614417, Febrile seizures, familial, 11 MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v1.0 Zornitza Stark promoted panel to version 1.0
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.230 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.230 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.229 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HSD17B10 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: HSD17B10 were set to HSD10 mitochondrial disease, MIM# 300438
Review for gene: HSD17B10 was set to GREEN
Added comment: HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Multiple unrelated families reported.
Sources: Expert Review
Mendeliome v0.5904 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Mendeliome v0.5904 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Mendeliome v0.5904 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Mendeliome v0.5903 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.81 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease, MIM# 300438 to HSD10 mitochondrial disease, MIM# 300438
Mendeliome v0.5902 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.80 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Fatty Acid Oxidation Defects v0.79 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fatty Acid Oxidation Defects v0.78 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5902 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Mendeliome v0.5902 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Mendeliome v0.5902 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Mendeliome v0.5901 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Mendeliome v0.5900 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.78 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911
Fatty Acid Oxidation Defects v0.77 HMGCS2 Zornitza Stark Publications for gene: HMGCS2 were set to
Fatty Acid Oxidation Defects v0.76 HMGCS2 Zornitza Stark Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33045405; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5899 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Mendeliome v0.5899 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Mendeliome v0.5899 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Mendeliome v0.5899 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Mendeliome v0.5898 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Mendeliome v0.5897 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Tag SV/CNV tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, MIM# 246450 to HMG-CoA lyase deficiency, MIM# 246450
Mendeliome v0.5896 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.75 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Fatty Acid Oxidation Defects v0.74 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Fatty Acid Oxidation Defects v0.73 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.72 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8617516; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.32 PDCL3 Shannon LeBlanc gene: PDCL3 was added
gene: PDCL3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: PDCL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCL3 were set to PMID: 32621347
Phenotypes for gene: PDCL3 were set to megacystis-microcolon
Review for gene: PDCL3 was set to AMBER
Added comment: Single publication (PMID 32621347): one family with two affected fetuses - one with megacystis and microcolon, and the other with megacystisis and bilateral diaphragmatic hernia (prune-belly phenotype). Compound het LOF variants in PDCL3 (one frameshift and one missense). Complete absence of PDLC3 expression demonstrated in one of the affected fetuses.

No homozygous LOF PDCL3 variants in gnomAD.
PCDL3 negatively modulates actin folding and is strongly expressed in smooth muscle of bladder and colon.
Sources: Literature
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark changed review comment from: The HADHA (600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.

Well established gene-disease association.; to: The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported.

Well established gene-disease association.
Fatty Acid Oxidation Defects v0.72 HADHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Marked gene: HADHB as ready
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.72 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015
Fatty Acid Oxidation Defects v0.71 HADHB Zornitza Stark Publications for gene: HADHB were set to
Fatty Acid Oxidation Defects v0.70 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Marked gene: HADHA as ready
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.69 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016
Fatty Acid Oxidation Defects v0.68 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Marked gene: HADH as ready
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.67 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency, MONDO:0009278
Fatty Acid Oxidation Defects v0.66 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; SCHAD deficiency
Fatty Acid Oxidation Defects v0.65 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.64 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Fatty Acid Oxidation Defects v0.63 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5896 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Mendeliome v0.5896 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Mendeliome v0.5896 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Mendeliome v0.5895 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Mendeliome v0.5894 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.62 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Fatty Acid Oxidation Defects v0.61 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Fatty Acid Oxidation Defects v0.60 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.59 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM# 231680
Fatty Acid Oxidation Defects v0.58 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Marked gene: ETFB as ready
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.57 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Fatty Acid Oxidation Defects v0.56 ETFB Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.55 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark commented on gene: ETFA: Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Marked gene: ETFA as ready
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.55 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Fatty Acid Oxidation Defects v0.54 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.53 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.53 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Fatty Acid Oxidation Defects v0.52 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.51 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.51 CPT1A Zornitza Stark Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120
Fatty Acid Oxidation Defects v0.50 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Fatty Acid Oxidation Defects v0.49 CPT1A Zornitza Stark Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5893 CFAP58 Zornitza Stark Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) to Spermatogenic failure 49, MIM#619144; Multiple morphological abnormalities of the sperm flagella (MMAF)
Mendeliome v0.5892 CFAP58 Zornitza Stark reviewed gene: CFAP58: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 49, MIM#619144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150; 11967537
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Lipodystrophy_Lipoatrophy v0.16 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.15 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32876150, 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5892 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150
Mendeliome v0.5891 AGPAT2 Zornitza Stark Tag SV/CNV tag was added to gene: AGPAT2.
Mendeliome v0.5891 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5891 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Mendeliome v0.5891 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Mendeliome v0.5891 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1 MIM#608594
Mendeliome v0.5890 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Mendeliome v0.5889 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 AGPAT2 Elena Savva reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32876150; Phenotypes: Lipodystrophy, congenital generalized, type 1 MIM#608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5888 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Mendeliome v0.5888 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Mendeliome v0.5888 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Mendeliome v0.5887 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Mendeliome v0.5886 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.48 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200
Fatty Acid Oxidation Defects v0.47 LPIN1 Zornitza Stark Publications for gene: LPIN1 were set to
Fatty Acid Oxidation Defects v0.46 LPIN1 Zornitza Stark Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 LPIN1 Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Marked gene: TAZ as ready
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.45 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Fatty Acid Oxidation Defects v0.44 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3367 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Intellectual disability syndromic and non-syndromic v0.3366 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Intellectual disability syndromic and non-syndromic v0.3365 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3364 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5885 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Mendeliome v0.5885 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Mendeliome v0.5885 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Mendeliome v0.5884 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Mendeliome v0.5883 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.43 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Fatty Acid Oxidation Defects v0.42 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Fatty Acid Oxidation Defects v0.41 MLYCD Zornitza Stark Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5882 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Mendeliome v0.5882 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Mendeliome v0.5882 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Mendeliome v0.5881 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Mendeliome v0.5880 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5879 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.40 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138
Fatty Acid Oxidation Defects v0.39 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Fatty Acid Oxidation Defects v0.38 SLC25A20 Zornitza Stark Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.37 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.36 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy v0.97 SETX Zornitza Stark Marked gene: SETX as ready
Hereditary Neuropathy v0.97 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.97 SETX Zornitza Stark Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy v0.96 SETX Zornitza Stark Publications for gene: SETX were set to
Hereditary Neuropathy v0.95 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.94 SETX Elena Savva reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23129421, 16644229, 30052327; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5879 GABRD Zornitza Stark Marked gene: GABRD as ready
Mendeliome v0.5879 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5879 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Mendeliome v0.5878 GABRD Zornitza Stark Publications for gene: GABRD were set to
Mendeliome v0.5877 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5876 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Mendeliome v0.5876 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Mendeliome v0.5875 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Marked gene: GABRD as ready
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v0.86 GABRD Zornitza Stark Publications for gene: GABRD were set to
Neurotransmitter Defects v0.85 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.83 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5875 SPR Zornitza Stark Marked gene: SPR as ready
Mendeliome v0.5875 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Mendeliome v0.5875 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Mendeliome v0.5874 SPR Zornitza Stark Publications for gene: SPR were set to
Mendeliome v0.5873 SPR Zornitza Stark edited their review of gene: SPR: Changed publications: 22522443, 16650784, 21431957, 28189489
Mendeliome v0.5873 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.80 SPR Zornitza Stark Marked gene: SPR as ready
Brain Channelopathies v0.80 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Brain Channelopathies v0.80 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Brain Channelopathies v0.79 SPR Zornitza Stark Publications for gene: SPR were set to
Brain Channelopathies v0.78 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.77 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Brain Channelopathies v0.77 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Brain Channelopathies v0.76 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Brain Channelopathies v0.75 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark edited their review of gene: SLC2A1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.74 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1-deficiency syndrome, MONDO:0000188; Dystonia 9 601042; GLUT1 deficiency syndrome 1, infantile onset, severe 606777; GLUT1 deficiency syndrome 2, childhood onset 612126; Stomatin-deficient cryohydrocytosis with neurologic defects 608885
Brain Channelopathies v0.73 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Brain Channelopathies v0.72 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.71 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32913944; Phenotypes: GLUT1-deficiency syndrome, MONDO:0000188, Dystonia 9 601042, GLUT1 deficiency syndrome 1, infantile onset, severe 606777, GLUT1 deficiency syndrome 2, childhood onset 612126, Stomatin-deficient cryohydrocytosis with neurologic defects 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.70 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Brain Channelopathies v0.70 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Brain Channelopathies v0.70 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Brain Channelopathies v0.69 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.68 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.68 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Brain Channelopathies v0.68 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Brain Channelopathies v0.68 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634
Brain Channelopathies v0.67 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.66 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dravet syndrome 607208, Epilepsy, generalized, with febrile seizures plus, type 2 604403, Febrile seizures, familial, 3A 604403, Migraine, familial hemiplegic, 3 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.66 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.91 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Paroxysmal Dyskinesia v0.90 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.89 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.88 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5872 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Mendeliome v0.5872 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Mendeliome v0.5872 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Mendeliome v0.5871 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Brain Channelopathies v0.65 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Mendeliome v0.5870 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Channelopathies v0.65 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5869 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.64 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Brain Channelopathies v0.63 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Brain Channelopathies v0.62 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.61 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33126500; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis 602066, Episodic kinesigenic dyskinesia 1 128200, Seizures, benign familial infantile, 2 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.61 PNKD Zornitza Stark Marked gene: PNKD as ready
Brain Channelopathies v0.61 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Brain Channelopathies v0.61 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Brain Channelopathies v0.60 PNKD Zornitza Stark Publications for gene: PNKD were set to
Brain Channelopathies v0.59 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.58 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15496428; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.88 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Paroxysmal Dyskinesia v0.87 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Paroxysmal Dyskinesia v0.86 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.85 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3364 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Intellectual disability syndromic and non-syndromic v0.3363 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Intellectual disability syndromic and non-syndromic v0.3362 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3361 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.990 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Genetic Epilepsy v0.989 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Genetic Epilepsy v0.988 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.987 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5869 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Mendeliome v0.5869 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Green List (High Evidence).
Mendeliome v0.5869 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Mendeliome v0.5868 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Mendeliome v0.5867 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.58 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201
Mendeliome v0.5866 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.57 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Brain Channelopathies v0.56 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.55 KCNQ3 Zornitza Stark reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.55 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Myokymia, MIM# 121200; Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720
Brain Channelopathies v0.54 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.53 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myokymia, MIM# 121200, Seizures, benign neonatal, 1, MIM# 121200, Developmental and epileptic encephalopathy 7, MIM# 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3361 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3360 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.184 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Polydactyly v0.183 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None
Ciliopathies v0.221 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5866 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Mendeliome v0.5866 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Mendeliome v0.5866 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5865 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None
Ciliopathies v0.220 PRKACB Zornitza Stark edited their review of gene: PRKACB: Changed phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Congenital Heart Defect v0.82 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Congenital Heart Defect v0.81 PRKACB Zornitza Stark reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polydactyly v0.183 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Polydactyly v0.183 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Polydactyly v0.183 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Polydactyly v0.182 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: None
Mendeliome v0.5865 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mendeliome v0.5864 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.220 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Ciliopathies v0.219 PRKACA Zornitza Stark edited their review of gene: PRKACA: Changed phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Congenital Heart Defect v0.81 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Congenital Heart Defect v0.80 PRKACA Zornitza Stark reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.53 CACNA1S Zornitza Stark Classified gene: CACNA1S as Red List (low evidence)
Brain Channelopathies v0.53 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Red List (Low Evidence).
Brain Channelopathies v0.52 CACNA1S Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but a skeletal muscle channelopathy.
Brain Channelopathies v0.52 CACNA1S Zornitza Stark edited their review of gene: CACNA1S: Changed rating: RED
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Brain Channelopathies v0.52 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400
Brain Channelopathies v0.51 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Brain Channelopathies v0.50 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.49 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Brain Channelopathies v0.49 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6 MIM#612656
Brain Channelopathies v0.48 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Brain Channelopathies v0.47 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.46 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, MIM# 160120 to Episodic ataxia/myokymia syndrome, MIM# 160120
Brain Channelopathies v0.45 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120
Brain Channelopathies v0.44 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to 11026449
Brain Channelopathies v0.44 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Brain Channelopathies v0.43 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Brain Channelopathies v0.42 KCNA1 Zornitza Stark Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Brain Channelopathies v0.41 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500
Brain Channelopathies v0.40 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.39 CACNA1A Zornitza Stark Tag STR tag was added to gene: CACNA1A.
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Brain Channelopathies v0.38 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235
Brain Channelopathies v0.37 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to 15260953; 22842232; 24468074
Brain Channelopathies v0.37 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Brain Channelopathies v0.36 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.35 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.27 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Blepharophimosis v0.27 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Blepharophimosis v0.27 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM# 618050
Blepharophimosis v0.26 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Blepharophimosis v0.25 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.24 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57, MIM# 618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5864 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Mendeliome v0.5864 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Mendeliome v0.5864 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Mendeliome v0.5863 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Mendeliome v0.5862 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5861 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.251 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Arthrogryposis v0.251 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Arthrogryposis v0.251 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Arthrogryposis v0.250 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Arthrogryposis v0.249 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.24 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Blepharophimosis v0.24 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Blepharophimosis v0.24 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920
Blepharophimosis v0.23 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Blepharophimosis v0.22 SCARF2 Zornitza Stark Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.21 SCARF2 Zornitza Stark reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v1.0 Zornitza Stark promoted panel to version 1.0
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Classified gene: CRYAA as Amber List (moderate evidence)
Eye Anterior Segment Abnormalities v0.49 CRYAA Zornitza Stark Gene: cryaa has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.48 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Eye Anterior Segment Abnormalities. Sources: Expert Review
Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYAA were set to 32791987
Phenotypes for gene: CRYAA were set to Anterior segment dysgenesis
Mode of pathogenicity for gene: CRYAA was set to Other
Review for gene: CRYAA was set to AMBER
Added comment: Variants in this gene are associated with cataract.

Two unrelated individuals reported with elongation variants and a more complex eye phenotype, including bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia.
Sources: Expert Review
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.47 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
Eye Anterior Segment Abnormalities v0.46 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Eye Anterior Segment Abnormalities v0.45 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.44 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9620774, 29405783, 24555714; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Classified gene: COL6A3 as Amber List (moderate evidence)
Eye Anterior Segment Abnormalities v0.44 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Eye Anterior Segment Abnormalities v0.43 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Eye Anterior Segment Abnormalities. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data.
Sources: Literature
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.42 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500
Eye Anterior Segment Abnormalities v0.41 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Eye Anterior Segment Abnormalities v0.40 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.39 PITX2 Zornitza Stark reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.39 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Eye Anterior Segment Abnormalities v0.38 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Eye Anterior Segment Abnormalities v0.37 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.36 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.36 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700
Eye Anterior Segment Abnormalities v0.35 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Eye Anterior Segment Abnormalities v0.34 ITPR1 Zornitza Stark Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.33 ITPR1 Zornitza Stark reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.33 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Eye Anterior Segment Abnormalities v0.32 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Eye Anterior Segment Abnormalities v0.31 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.30 FOXE3 Zornitza Stark edited their review of gene: FOXE3: Added comment: Bi-allelic variants in this gene are associated with a range of eye phenotypes, including sclerocornea, aphakia, and microphthalmia, glaucoma, iris coloboma.; Changed publications: 16826526, 27218149, 32499604, 29878917
Eye Anterior Segment Abnormalities v0.29 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.29 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631; Axenfeld-Rieger syndrome, type 3, MIM# 602482
Eye Anterior Segment Abnormalities v0.28 FOXC1 Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.27 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631, Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Classified gene: GJA8 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.27 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.26 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA8 were set to 30498267; 29464339; 32499604
Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, MIM# 116200; Microphthalmia; Anterior segment dysgenesis
Review for gene: GJA8 was set to GREEN
Added comment: At least 7 individuals reported with microphthalmia as well as cataract and a range of other ocular anomalies including anterior segment dysgenesis.
Sources: Expert Review
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.25 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315
Eye Anterior Segment Abnormalities v0.24 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Eye Anterior Segment Abnormalities v0.23 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.22 CYP1B1 Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.22 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932; Anterior segment dysgenesis; Peter's anomaly
Eye Anterior Segment Abnormalities v0.21 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Eye Anterior Segment Abnormalities v0.20 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.19 BMP4 Zornitza Stark edited their review of gene: BMP4: Changed phenotypes: Microphthalmia, syndromic 6, MIM# 607932, Anterior segment dysgenesis, Peter's anomaly
Eye Anterior Segment Abnormalities v0.19 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32224865, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.19 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM# 261540
Eye Anterior Segment Abnormalities v0.18 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Eye Anterior Segment Abnormalities v0.17 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.16 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18798333, 19796186, 32533185, 32204707, 31795264; Phenotypes: Peters-plus syndrome, MIM# 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.16 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Aortopathy_Connective Tissue Disorders v1.9 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome MIM#606145 to Arterial tortuosity syndrome MIM#208050
Aortopathy_Connective Tissue Disorders v1.8 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.8 SKI Zornitza Stark Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, MIM#164780 to Shprintzen-Goldberg syndrome, MIM#182212
Aortopathy_Connective Tissue Disorders v1.7 SKI Zornitza Stark edited their review of gene: SKI: Changed rating: GREEN; Changed phenotypes: Shprintzen-Goldberg syndrome, MIM#182212
Aortopathy_Connective Tissue Disorders v1.7 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from Aortic aneurysm, familial thoracic 8, MIM#176894 to Aortic aneurysm, familial thoracic 8, MIM#615436
Aortopathy_Connective Tissue Disorders v1.6 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM#615436; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.6 PCGF2 Zornitza Stark Phenotypes for gene: PCGF2 were changed from Turnpenny-Fry syndrome, MIM#600346 to Turnpenny-Fry syndrome, MIM#618371
Aortopathy_Connective Tissue Disorders v1.5 PCGF2 Zornitza Stark edited their review of gene: PCGF2: Changed phenotypes: Turnpenny-Fry syndrome, MIM#618371
Aortopathy_Connective Tissue Disorders v1.5 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780
Aortopathy_Connective Tissue Disorders v1.4 MYLK Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: None
Aortopathy_Connective Tissue Disorders v1.4 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010
Aortopathy_Connective Tissue Disorders v1.3 COL5A2 Zornitza Stark edited their review of gene: COL5A2: Changed rating: GREEN
Aortopathy_Connective Tissue Disorders v1.3 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM#130010; Mode of inheritance: None
Dystonia and Chorea v0.158 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Dystonia and Chorea v0.157 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Intellectual disability syndromic and non-syndromic v0.3360 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Intellectual disability syndromic and non-syndromic v0.3359 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.987 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Genetic Epilepsy v0.986 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.514 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Microcephaly v0.513 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Mendeliome v0.5861 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Mendeliome v0.5860 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement
Regression v0.228 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.228 BSCL2 Zornitza Stark Classified gene: BSCL2 as Green List (high evidence)
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.227 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 23564749; 27452399
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924
Review for gene: BSCL2 was set to GREEN
Added comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.

At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect).
Sources: Expert Review
Mendeliome v0.5860 GSTO1 Zornitza Stark Marked gene: GSTO1 as ready
Mendeliome v0.5860 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Mendeliome v0.5860 GSTO1 Zornitza Stark Phenotypes for gene: GSTO1 were changed from to Deficiency of Human Glutathione Transferase Omega 1
Mendeliome v0.5859 GSTO1 Zornitza Stark Publications for gene: GSTO1 were set to
Mendeliome v0.5858 GSTO1 Zornitza Stark Classified gene: GSTO1 as Red List (low evidence)
Mendeliome v0.5858 GSTO1 Zornitza Stark Gene: gsto1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.190 PRPS1 Lilian Downie reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Additional findings_Paediatric v0.190 PLS1 Lilian Downie gene: PLS1 was added
gene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
Added comment: Deafness_isolated list
Sources: Expert list
Additional findings_Paediatric v0.190 OTOG Lilian Downie reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 OSBPL2 Lilian Downie gene: OSBPL2 was added
gene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340
Review for gene: OSBPL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 MSRB3 Lilian Downie reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 MPZL2 Lilian Downie gene: MPZL2 was added
gene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145
Review for gene: MPZL2 was set to GREEN
Added comment: From deafness_isolated
Sources: Expert list
Additional findings_Paediatric v0.190 LMX1A Lilian Downie gene: LMX1A was added
gene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMX1A were set to Deafness MIM#601412
Added comment: Can be paediatric or adult onset ?inclusion
Sources: Expert list
Additional findings_Paediatric v0.190 KCNQ1 Lilian Downie reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5857 GSTO1 Elena Savva reviewed gene: GSTO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21106529; Phenotypes: Deficiency of Human Glutathione Transferase Omega 1; Mode of inheritance: None
Anophthalmia_Microphthalmia_Coloboma v1.0 Zornitza Stark promoted panel to version 1.0
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.209 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM#175780
Anophthalmia_Microphthalmia_Coloboma v0.208 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.207 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.206 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome
Anophthalmia_Microphthalmia_Coloboma v0.205 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Walker-Walburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Marked gene: OCRL as ready
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Anophthalmia_Microphthalmia_Coloboma v0.203 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Marked gene: NDP as ready
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.202 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM# 310600
Anophthalmia_Microphthalmia_Coloboma v0.201 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.200 NDP Zornitza Stark reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5857 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Anophthalmia_Microphthalmia_Coloboma v0.200 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Anophthalmia_Microphthalmia_Coloboma v0.199 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Anophthalmia_Microphthalmia_Coloboma v0.198 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 24431331; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.197 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.196 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.195 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Mendeliome v0.5857 PRR12 Zornitza Stark Marked gene: PRR12 as ready
Mendeliome v0.5857 PRR12 Zornitza Stark Gene: prr12 has been classified as Green List (High Evidence).
Mendeliome v0.5857 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Intellectual disability; Iris abnormalities; Complex microphthalmia
Mendeliome v0.5856 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Mendeliome v0.5855 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.194 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from to Complex microphthalmia
Mendeliome v0.5854 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Intellectual disability, Iris abnormalities, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.193 PRR12 Zornitza Stark Publications for gene: PRR12 were set to
Anophthalmia_Microphthalmia_Coloboma v0.192 PRR12 Zornitza Stark Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.191 PRR12 Zornitza Stark reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5854 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Mendeliome v0.5854 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Mendeliome v0.5854 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Mendeliome v0.5853 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Mendeliome v0.5852 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5851 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Marked gene: PRSS56 as ready
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Gene: prss56 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.191 PRSS56 Zornitza Stark Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517
Anophthalmia_Microphthalmia_Coloboma v0.190 PRSS56 Zornitza Stark Publications for gene: PRSS56 were set to
Anophthalmia_Microphthalmia_Coloboma v0.189 PRSS56 Zornitza Stark Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Tag SV/CNV tag was added to gene: HCCS.
Anophthalmia_Microphthalmia_Coloboma v0.188 PRSS56 Zornitza Stark reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Marked gene: HCCS as ready
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.188 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Anophthalmia_Microphthalmia_Coloboma v0.187 HCCS Zornitza Stark Publications for gene: HCCS were set to
Anophthalmia_Microphthalmia_Coloboma v0.186 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.185 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from Cataract 1, multiple types, MIM# 116200; Microphthalmia to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.257 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Cataract v0.257 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.256 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Cataract v0.255 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.254 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5851 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Mendeliome v0.5851 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Mendeliome v0.5851 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Mendeliome v0.5850 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Mendeliome v0.5849 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5848 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.185 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.184 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Anophthalmia_Microphthalmia_Coloboma v0.183 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.182 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300
Anophthalmia_Microphthalmia_Coloboma v0.181 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.180 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Incontinentia pigmenti, MIM# 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5848 ATIC Zornitza Stark Marked gene: ATIC as ready
Mendeliome v0.5848 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Mendeliome v0.5848 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Mendeliome v0.5847 ATIC Zornitza Stark Publications for gene: ATIC were set to
Mendeliome v0.5846 ATIC Zornitza Stark Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Marked gene: ATIC as ready
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Mendeliome v0.5845 ATIC Zornitza Stark reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3359 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Intellectual disability syndromic and non-syndromic v0.3358 ATIC Zornitza Stark Publications for gene: ATIC were set to
Intellectual disability syndromic and non-syndromic v0.3357 ATIC Zornitza Stark Mode of inheritance for gene: ATIC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3356 ATIC Zornitza Stark reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 15114530, 32557644; Phenotypes: AICA-ribosiduria due to ATIC deficiency, MIM# 608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.180 MITF Zornitza Stark Publications for gene: MITF were set to
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Marked gene: MITF as ready
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark changed review comment from: Well established gene-disease association, multiple families and animal models.; to: Waardenburg syndrome: Well established gene-disease association, multiple families and animal models.
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark edited their review of gene: MITF: Changed phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness
Deafness_IsolatedAndComplex v1.43 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Deafness_IsolatedAndComplex v1.42 MITF Zornitza Stark Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893
Deafness_IsolatedAndComplex v1.41 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.40 MITF Zornitza Stark edited their review of gene: MITF: Added comment: PMID 32728090: two families reported with bi-allelic variants and isolated deafness.; Changed publications: 7874167, 23512835, 27759048, 28356565, 9499424, 27349893, 32728090; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.179 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306
Anophthalmia_Microphthalmia_Coloboma v0.178 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.177 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Anophthalmia_Microphthalmia_Coloboma v0.176 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.175 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.174 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Anophthalmia_Microphthalmia_Coloboma v0.173 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.172 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27218149, 21150893, 31884615, 29878917, 29713869; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.171 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Anophthalmia_Microphthalmia_Coloboma v0.170 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Anophthalmia_Microphthalmia_Coloboma v0.169 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206157, 19685247, 20358615, 32766183, 24783654; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.168 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663
Anophthalmia_Microphthalmia_Coloboma v0.167 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Anophthalmia_Microphthalmia_Coloboma v0.166 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.165 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.164 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP2 were set to 32015000
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804
Review for gene: CDK5RAP2 was set to GREEN
Added comment: Microphthalmia is a feature.
Sources: Literature
Mendeliome v0.5845 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5845 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Mendeliome v0.5845 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Mendeliome v0.5844 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Classified gene: FZD5 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.163 FZD5 Zornitza Stark Gene: fzd5 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.162 FZD5 Zornitza Stark gene: FZD5 was added
gene: FZD5 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were set to 32737437; 26908622
Phenotypes for gene: FZD5 were set to Coloboma
Review for gene: FZD5 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Classified gene: FAM111A as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.161 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.160 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 32996714; 23684011
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000
Review for gene: FAM111A was set to GREEN
Added comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature
Mendeliome v0.5843 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Mendeliome v0.5843 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Mendeliome v0.5843 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Mendeliome v0.5842 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Mendeliome v0.5841 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5840 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.159 STRA6 Zornitza Stark Phenotypes for gene: STRA6 were changed from to Microphthalmia, isolated, with coloboma 8, MIM# 601186; Microphthalmia, syndromic 9, MIM# 601186
Anophthalmia_Microphthalmia_Coloboma v0.158 STRA6 Zornitza Stark Publications for gene: STRA6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.157 STRA6 Zornitza Stark Mode of inheritance for gene: STRA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.156 STRA6 Zornitza Stark reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8, MIM# 601186, Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3356 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Intellectual disability syndromic and non-syndromic v0.3356 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Mendeliome v0.5840 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Mendeliome v0.5840 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3355 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Intellectual disability syndromic and non-syndromic v0.3354 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3353 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5840 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Mendeliome v0.5839 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Mendeliome v0.5838 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Mendeliome v0.5837 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.156 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Anophthalmia_Microphthalmia_Coloboma v0.155 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.154 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.153 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450772, 28121235, 25542770, 24498598, 24211324, 24033328, 21326281; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900, Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5837 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Gene: six6 has been classified as Green List (High Evidence).
Mendeliome v0.5836 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.153 SIX6 Zornitza Stark Phenotypes for gene: SIX6 were changed from to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Mendeliome v0.5835 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5834 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.152 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.151 SIX6 Zornitza Stark Mode of inheritance for gene: SIX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX6 Zornitza Stark reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23167593, 24702266, 33108933, 31207931, 24702266; Phenotypes: Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.150 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170
Anophthalmia_Microphthalmia_Coloboma v0.149 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.148 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Marked gene: SHH as ready
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.147 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Microphthalmia with coloboma 5, MIM# 611638; Holoprosencephaly 3, MIM# 142945
Anophthalmia_Microphthalmia_Coloboma v0.146 SHH Zornitza Stark Publications for gene: SHH were set to
Anophthalmia_Microphthalmia_Coloboma v0.145 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095; Phenotypes: Microphthalmia with coloboma 5, MIM# 611638, Holoprosencephaly 3, MIM# 142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.127 RERE Zornitza Stark Marked gene: RERE as ready
Autism v0.127 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Autism v0.127 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Autism v0.126 RERE Zornitza Stark Publications for gene: RERE were set to
Autism v0.125 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.124 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.21 RERE Zornitza Stark Marked gene: RERE as ready
Blepharophimosis v0.21 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Blepharophimosis v0.21 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Blepharophimosis v0.20 RERE Zornitza Stark Publications for gene: RERE were set to
Blepharophimosis v0.19 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Blepharophimosis v0.18 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Marked gene: RERE as ready
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3353 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Intellectual disability syndromic and non-syndromic v0.3352 RERE Zornitza Stark Publications for gene: RERE were set to
Intellectual disability syndromic and non-syndromic v0.3351 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3350 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5834 RERE Zornitza Stark Marked gene: RERE as ready
Mendeliome v0.5834 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Mendeliome v0.5834 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Mendeliome v0.5833 RERE Zornitza Stark Publications for gene: RERE were set to
Mendeliome v0.5832 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Marked gene: RERE as ready
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.144 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Anophthalmia_Microphthalmia_Coloboma v0.143 RERE Zornitza Stark Publications for gene: RERE were set to
Anophthalmia_Microphthalmia_Coloboma v0.142 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.141 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5831 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Mendeliome v0.5830 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.209 IKZF5 Zornitza Stark Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130
Bleeding and Platelet Disorders v0.208 IKZF5 Zornitza Stark edited their review of gene: IKZF5: Changed phenotypes: Thrombocytopaenia 7, MIM#619130
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Marked gene: ABCB6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 ABCB6 Zornitza Stark Gene: abcb6 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Marked gene: RAX as ready
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.141 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5830 RAX Zornitza Stark Marked gene: RAX as ready
Mendeliome v0.5830 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Mendeliome v0.5830 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, MIM# 611038 to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5829 RAX Zornitza Stark Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, MIM# 611038
Mendeliome v0.5828 RAX Zornitza Stark Publications for gene: RAX were set to
Mendeliome v0.5827 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.140 RAX Zornitza Stark Publications for gene: RAX were set to
Mendeliome v0.5826 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.139 RAX Zornitza Stark Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RAX Zornitza Stark reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14662654, 18783408, 30811539, 24033328, 22524605; Phenotypes: Microphthalmia, isolated 3, MIM# 611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Marked gene: RARA as ready
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark Gene: rara has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.138 RARA Zornitza Stark gene: RARA was added
gene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RARA were set to 31343737
Phenotypes for gene: RARA were set to Syndromic chorioretinal coloboma
Review for gene: RARA was set to RED
Added comment: Single case report of de novo missense variant in association with syndromic coloboma.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Marked gene: RARB as ready
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3350 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Intellectual disability syndromic and non-syndromic v0.3349 RARB Zornitza Stark Publications for gene: RARB were set to
Intellectual disability syndromic and non-syndromic v0.3348 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3347 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5826 RARB Zornitza Stark Marked gene: RARB as ready
Mendeliome v0.5826 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Mendeliome v0.5826 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Mendeliome v0.5825 RARB Zornitza Stark Publications for gene: RARB were set to
Mendeliome v0.5824 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Mendeliome v0.5823 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Marked gene: RARB as ready
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Gene: rarb has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.137 RARB Zornitza Stark Phenotypes for gene: RARB were changed from to Microphthalmia, syndromic 12, MIM# 615524
Anophthalmia_Microphthalmia_Coloboma v0.136 RARB Zornitza Stark Publications for gene: RARB were set to
Anophthalmia_Microphthalmia_Coloboma v0.135 RARB Zornitza Stark Mode of pathogenicity for gene: RARB was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.134 RARB Zornitza Stark Mode of inheritance for gene: RARB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RARB Zornitza Stark reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12, MIM# 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5822 RARA Zornitza Stark Phenotypes for gene: RARA were changed from to Syndromic chorioretinal coloboma
Mendeliome v0.5821 RARA Zornitza Stark Publications for gene: RARA were set to
Mendeliome v0.5820 RARA Zornitza Stark Mode of inheritance for gene: RARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5819 RARA Zornitza Stark Deleted their comment
Mendeliome v0.5819 RARA Zornitza Stark edited their review of gene: RARA: Added comment: Single case report of de novo missense variant in association with syndromic coloboma.; Changed publications: 31343737; Changed phenotypes: Syndromic chorioretinal coloboma
Cataract v0.254 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Cataract v0.254 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Cataract v0.254 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Cataract v0.253 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Cataract v0.252 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP2 Zornitza Stark changed review comment from: Multiple families reported, well established gene-disease association.; to: Multiple families reported, well established gene-disease association. Cataract is a feature.
Cataract v0.251 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome to Warburg micro syndrome 2, MIM# 614225
Additional findings_Paediatric v0.189 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Green List (high evidence)
Additional findings_Paediatric v0.188 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.133 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Anophthalmia_Microphthalmia_Coloboma v0.132 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.131 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118
Cataract v0.251 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Cataract v0.251 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Cataract v0.250 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Cataract v0.249 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.130 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Cataract v0.248 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.129 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.128 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Multiple families reported.; to: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.
Anophthalmia_Microphthalmia_Coloboma v0.127 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5819 PXDN Zornitza Stark Marked gene: PXDN as ready
Mendeliome v0.5819 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Mendeliome v0.5819 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Mendeliome v0.5818 PXDN Zornitza Stark Publications for gene: PXDN were set to
Mendeliome v0.5817 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5816 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.248 PXDN Zornitza Stark Marked gene: PXDN as ready
Cataract v0.248 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Cataract v0.248 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Cataract v0.247 PXDN Zornitza Stark Publications for gene: PXDN were set to
Cataract v0.246 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Marked gene: PXDN as ready
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.15 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Eye Anterior Segment Abnormalities v0.14 PXDN Zornitza Stark Publications for gene: PXDN were set to
Eye Anterior Segment Abnormalities v0.13 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.12 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Marked gene: PXDN as ready
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.127 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Anophthalmia_Microphthalmia_Coloboma v0.126 PXDN Zornitza Stark Publications for gene: PXDN were set to
Anophthalmia_Microphthalmia_Coloboma v0.125 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.124 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Microphthalmia; Coloboma, ocular, MIM# 120200
Anophthalmia_Microphthalmia_Coloboma v0.123 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Anophthalmia_Microphthalmia_Coloboma v0.122 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: Microphthalmia, Coloboma, ocular, MIM# 120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.121 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352
Anophthalmia_Microphthalmia_Coloboma v0.120 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.119 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.118 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3347 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Intellectual disability syndromic and non-syndromic v0.3346 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Intellectual disability syndromic and non-syndromic v0.3345 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3344 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.118 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Mendeliome v0.5816 SMOC1 Zornitza Stark Marked gene: SMOC1 as ready
Mendeliome v0.5816 SMOC1 Zornitza Stark Gene: smoc1 has been classified as Green List (High Evidence).
Mendeliome v0.5816 SMOC1 Zornitza Stark Phenotypes for gene: SMOC1 were changed from to Microphthalmia with limb anomalies, MIM# 206920
Mendeliome v0.5815 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Mendeliome v0.5814 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.117 SMOC1 Zornitza Stark Publications for gene: SMOC1 were set to
Mendeliome v0.5813 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.116 SMOC1 Zornitza Stark Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 SMOC1 Zornitza Stark reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Marked gene: NHS as ready
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.115 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome, MIM# 302350
Anophthalmia_Microphthalmia_Coloboma v0.114 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.113 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome, MIM# 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.113 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230
Anophthalmia_Microphthalmia_Coloboma v0.112 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.111 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Classified gene: HESX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.110 HESX1 Zornitza Stark Gene: hesx1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: RED; Mode of pathogenicity: None; Publications: 11136712; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5813 MFRP Zornitza Stark Marked gene: MFRP as ready
Mendeliome v0.5813 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Mendeliome v0.5813 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Mendeliome v0.5812 MFRP Zornitza Stark Publications for gene: MFRP were set to
Mendeliome v0.5811 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5810 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Marked gene: MFRP as ready
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.109 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Anophthalmia_Microphthalmia_Coloboma v0.108 MFRP Zornitza Stark Publications for gene: MFRP were set to
Anophthalmia_Microphthalmia_Coloboma v0.107 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.106 MFRP Zornitza Stark reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3344 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Intellectual disability syndromic and non-syndromic v0.3343 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Intellectual disability syndromic and non-syndromic v0.3342 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3341 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5810 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Mendeliome v0.5810 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Mendeliome v0.5810 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Mendeliome v0.5809 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Mendeliome v0.5808 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5807 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Mendeliome v0.5807 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.106 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Anophthalmia_Microphthalmia_Coloboma v0.105 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.104 MAB21L2 Zornitza Stark Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.103 MAB21L2 Zornitza Stark reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.226 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Regression v0.226 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.226 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Regression v0.225 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Regression v0.224 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.223 PDSS1 Zornitza Stark Classified gene: PDSS1 as Red List (low evidence)
Regression v0.223 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.222 PDSS1 Zornitza Stark reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3341 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Intellectual disability syndromic and non-syndromic v0.3340 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Intellectual disability syndromic and non-syndromic v0.3339 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5807 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mendeliome v0.5807 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mendeliome v0.5807 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mendeliome v0.5806 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mendeliome v0.5805 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mitochondrial disease v0.562 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mitochondrial disease v0.561 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3338 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.560 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5804 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mandibulofacial Acrofacial dysostosis v0.20 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, MIM# 616462
Mandibulofacial Acrofacial dysostosis v0.19 POLR1A Zornitza Stark Publications for gene: POLR1A were set to 25913037
Mandibulofacial Acrofacial dysostosis v0.19 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Mandibulofacial Acrofacial dysostosis v0.18 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.17 POLR1A Zornitza Stark reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type, MIM# 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5804 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Mendeliome v0.5804 POLR1A Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for the association between bi-allelic variants and leukodystrophy.
Mendeliome v0.5804 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Mendeliome v0.5804 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462) to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy
Mendeliome v0.5803 POLR1A Zornitza Stark Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, (MIM#616462)
Mendeliome v0.5802 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Mendeliome v0.5801 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 POLR1A Ain Roesley reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5800 LOXL3 Zornitza Stark Marked gene: LOXL3 as ready
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5800 LOXL3 Zornitza Stark Classified gene: LOXL3 as Amber List (moderate evidence)
Mendeliome v0.5800 LOXL3 Zornitza Stark Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5799 LOXL3 Zornitza Stark gene: LOXL3 was added
gene: LOXL3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXL3 were set to 30362103; 25663169
Phenotypes for gene: LOXL3 were set to Stickler syndrome
Review for gene: LOXL3 was set to AMBER
Added comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association.
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.103 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome (MIM#603457)
Anophthalmia_Microphthalmia_Coloboma v0.102 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.101 SMCHD1 Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from to Other
Anophthalmia_Microphthalmia_Coloboma v0.100 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5798 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Mendeliome v0.5798 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Mendeliome v0.5798 RBP4 Zornitza Stark Phenotypes for gene: RBP4 were changed from to Microphthalmia, isolated, with coloboma 10 MIM#616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Mendeliome v0.5797 RBP4 Zornitza Stark Publications for gene: RBP4 were set to
Mendeliome v0.5796 RBP4 Zornitza Stark Mode of inheritance for gene: RBP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5795 RBP4 Zornitza Stark reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25910211, 29178648, 23189188, 9888420, 32323592; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Callosome v0.240 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Callosome v0.240 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.240 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Callosome v0.239 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Callosome v0.238 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.237 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Callosome v0.237 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.236 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5795 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Mendeliome v0.5795 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5795 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Mendeliome v0.5794 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Mendeliome v0.5793 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5792 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Mendeliome v0.5792 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Mendeliome v0.5791 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.99 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Anophthalmia_Microphthalmia_Coloboma v0.98 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.97 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Anophthalmia_Microphthalmia_Coloboma v0.96 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5791 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Mendeliome v0.5791 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Mendeliome v0.5791 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Mendeliome v0.5790 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Mendeliome v0.5789 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5788 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.95 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Anophthalmia_Microphthalmia_Coloboma v0.94 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.93 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.92 VSX2 Zornitza Stark reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 17661825, 31884615, 28121235, 27301076, 24033328; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.986 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Genetic Epilepsy v0.985 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Genetic Epilepsy v0.984 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.983 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5788 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Mendeliome v0.5788 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Mendeliome v0.5788 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Mendeliome v0.5787 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Mendeliome v0.5786 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5785 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.92 WDR37 Zornitza Stark Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome, MIM# 618652
Anophthalmia_Microphthalmia_Coloboma v0.91 WDR37 Zornitza Stark Publications for gene: WDR37 were set to
Anophthalmia_Microphthalmia_Coloboma v0.90 WDR37 Zornitza Stark Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 WDR37 Zornitza Stark reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327508; Phenotypes: Neurooculocardiogenitourinary syndrome, MIM# 618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.89 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800
Anophthalmia_Microphthalmia_Coloboma v0.88 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.87 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932
Anophthalmia_Microphthalmia_Coloboma v0.86 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Anophthalmia_Microphthalmia_Coloboma v0.85 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21340693, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.84 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Anophthalmia_Microphthalmia_Coloboma v0.83 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Anophthalmia_Microphthalmia_Coloboma v0.82 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.81 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Mendeliome v0.5785 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from to Microphthalmia, isolated 8, MIM# 615113
Mendeliome v0.5784 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Mendeliome v0.5783 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5782 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.80 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.79 ALDH1A3 Zornitza Stark Mode of inheritance for gene: ALDH1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.78 ALDH1A3 Zornitza Stark reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 23591992, 30200890, 28890889, 26873617, 24777706; Phenotypes: Microphthalmia, isolated 8, MIM# 615113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3338 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Intellectual disability syndromic and non-syndromic v0.3337 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.78 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Anophthalmia_Microphthalmia_Coloboma v0.77 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5782 C16orf62 Zornitza Stark Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Mendeliome v0.5781 VEGFC Zornitza Stark Marked gene: VEGFC as ready
Mendeliome v0.5781 VEGFC Zornitza Stark Gene: vegfc has been classified as Green List (High Evidence).
Mendeliome v0.5781 VEGFC Zornitza Stark Phenotypes for gene: VEGFC were changed from to Lymphatic malformation 4, MIM#615907
Mendeliome v0.5780 VEGFC Zornitza Stark Publications for gene: VEGFC were set to
Mendeliome v0.5779 VEGFC Zornitza Stark Mode of inheritance for gene: VEGFC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.35 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Brain Channelopathies v0.34 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Brain Channelopathies v0.33 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.32 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15174025, 15286158, 33126486, 31766058, 24097848; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5778 VEGFC Elena Savva reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23410910, 24744435, 30071673; Phenotypes: Lymphatic malformation 4, MIM#615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Osteogenesis Imperfecta and Osteoporosis v0.55 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Osteogenesis Imperfecta and Osteoporosis v0.54 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Mendeliome v0.5778 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Mendeliome v0.5777 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Intellectual disability syndromic and non-syndromic v0.3337 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124
Intellectual disability syndromic and non-syndromic v0.3336 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5777 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5776 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy 89, MIM# 619124
Genetic Epilepsy v0.983 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 89, MIM# 619124
Genetic Epilepsy v0.982 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed phenotypes: Developmental and epileptic encephalopathy 89, MIM# 619124
Mendeliome v0.5776 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.73 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Immune dysregulation; Lymphoma to Immune dysregulation; Lymphoma; Immunodeficiency-75 (IMD75), MIM#619126
Disorders of immune dysregulation v0.72 TET2 Zornitza Stark edited their review of gene: TET2: Changed phenotypes: Immune dysregulation, Lymphoma, Immunodeficiency-75 (IMD75), MIM#619126
Mendeliome v0.5775 NSD1 Chern Lim reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16010675, 15942875; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brain Calcification v1.2 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Brain Calcification v1.2 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Brain Calcification v1.2 TREM2 Zornitza Stark Classified gene: TREM2 as Green List (high evidence)
Brain Calcification v1.2 TREM2 Zornitza Stark Gene: trem2 has been classified as Green List (High Evidence).
Brain Calcification v1.1 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Review for gene: TREM2 was set to GREEN
Added comment: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. More than 5 unrelated families reported.
Sources: Expert list
Brain Calcification v1.0 Zornitza Stark promoted panel to version 1.0
Brain Calcification v0.90 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Brain Calcification v0.90 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Brain Calcification v0.90 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780
Brain Calcification v0.89 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.88 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5775 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Mendeliome v0.5775 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Mendeliome v0.5775 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Mendeliome v0.5774 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Mendeliome v0.5773 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5772 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.88 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Brain Calcification v0.88 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Brain Calcification v0.88 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Brain Calcification v0.88 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.87 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Brain Calcification v0.86 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.86 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Brain Calcification v0.86 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Brain Calcification v0.86 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, MIM# 610333
Brain Calcification v0.85 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Brain Calcification v0.84 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.83 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997, 16845400, 23592335, 27643693; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.83 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Brain Calcification v0.83 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Brain Calcification v0.83 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Brain Calcification v0.82 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Brain Calcification v0.81 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.80 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31004414, 30979360, 32613555; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.80 PDGFB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive. Multiple families reported.
Brain Calcification v0.80 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Brain Calcification v0.80 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Brain Calcification v0.80 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483
Mendeliome v0.5772 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Mendeliome v0.5772 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Mendeliome v0.5772 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5 , MIM#615483
Mendeliome v0.5771 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Mendeliome v0.5770 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5769 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.79 PDGFB Zornitza Stark Publications for gene: PDGFB were set to
Brain Calcification v0.78 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.77 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.76 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003, 30952898, 30609140; Phenotypes: Basal ganglia calcification, idiopathic, 5 , MIM#615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.76 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Brain Calcification v0.76 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Brain Calcification v0.76 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, MIM# 610329
Brain Calcification v0.75 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Brain Calcification v0.74 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.73 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 29239743, 29150899, 27643693; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.73 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Brain Calcification v0.73 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Brain Calcification v0.73 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Brain Calcification v0.72 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Brain Calcification v0.71 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.70 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.70 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Brain Calcification v0.70 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Brain Calcification v0.70 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Brain Calcification v0.69 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Brain Calcification v0.68 TREX1 Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.67 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17846997; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v0.67 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Brain Calcification v0.67 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Brain Calcification v0.67 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400
Brain Calcification v0.66 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Brain Calcification v0.65 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.64 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26204423; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Classified gene: MYO9A as Green List (high evidence)
Congenital ophthalmoplegia v0.92 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.91 MYO9A Zornitza Stark gene: MYO9A was added
gene: MYO9A was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Review for gene: MYO9A was set to GREEN
Added comment: Ptosis and ophthalmoplegia are common features of CMS.
Sources: Expert list
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Marked gene: CHRND as ready
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Classified gene: CHRND as Green List (high evidence)
Congenital ophthalmoplegia v0.90 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.89 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322
Review for gene: CHRND was set to GREEN
Added comment: Ptosis and ophthalmoplegia are features of congenital myasthenic syndromes.
Sources: Expert list
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Classified gene: LMOD3 as Green List (high evidence)
Congenital ophthalmoplegia v0.87 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.86 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to 25250574
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, MIM# 616165
Review for gene: LMOD3 was set to GREEN
Added comment: In a series of 21 affected individuals, ophthalmoplegia was present in a third.
Sources: Expert list
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark changed review comment from: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features.
Sources: Expert list; to: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features. Nine unrelated families.
Sources: Expert list
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Marked gene: HPDL as ready
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Congenital ophthalmoplegia v0.83 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.82 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Congenital ophthalmoplegia. Sources: Expert list
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026
Review for gene: HPDL was set to GREEN
Added comment: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances including ophthalmoplegia, episodic respiratory failure, and nonspecific dysmorphic facial features.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Classified gene: RNF216 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.184 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Review for gene: RNF216 was set to GREEN
Added comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females.
Sources: Expert list
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Classified gene: SURF1 as Green List (high evidence)
Congenital ophthalmoplegia v0.79 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Classified gene: SLC18A3 as Green List (high evidence)
Congenital ophthalmoplegia v0.78 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Congenital ophthalmoplegia v0.77 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Classified gene: BIN1 as Green List (high evidence)
Congenital ophthalmoplegia v0.76 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.5769 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Mendeliome v0.5769 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3336 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2; OMIM# 615777 to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Intellectual disability syndromic and non-syndromic v0.3335 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Intellectual disability syndromic and non-syndromic v0.3335 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Congenital Disorders of Glycosylation v0.369 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Congenital Disorders of Glycosylation v0.368 XYLT1 Zornitza Stark Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3335 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Intellectual disability syndromic and non-syndromic v0.3334 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Intellectual disability syndromic and non-syndromic v0.3333 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3332 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5769 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Mendeliome v0.5769 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Mendeliome v0.5769 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Mendeliome v0.5769 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Mendeliome v0.5768 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Mendeliome v0.5767 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Congenital Disorders of Glycosylation v0.366 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Congenital Disorders of Glycosylation v0.365 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark commented on gene: TMEM5: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB).
Mendeliome v0.5766 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Mendeliome v0.5766 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Lissencephaly and Band Heterotopia v0.107 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022
Congenital Disorders of Glycosylation v0.363 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Congenital Disorders of Glycosylation v0.362 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211, 30017359, 27733679, 27212206; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3332 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Intellectual disability syndromic and non-syndromic v0.3331 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Intellectual disability syndromic and non-syndromic v0.3330 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3329 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5766 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Mendeliome v0.5766 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Mendeliome v0.5766 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Mendeliome v0.5765 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Mendeliome v0.5764 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Congenital Disorders of Glycosylation v0.360 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Congenital Disorders of Glycosylation v0.359 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.358 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5763 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.358 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Mendeliome v0.5762 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to 31423530; 19508970
Mendeliome v0.5761 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.356 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Congenital Disorders of Glycosylation v0.355 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5761 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Mendeliome v0.5761 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Mendeliome v0.5761 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Mendeliome v0.5760 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Mendeliome v0.5759 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Congenital Disorders of Glycosylation v0.353 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Congenital Disorders of Glycosylation v0.352 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.351 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM# 616858
Mendeliome v0.5757 SEC23B Zornitza Stark Publications for gene: SEC23B were set to 19561605; 19621418
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472
Mendeliome v0.5756 SEC23B Zornitza Stark changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.

Mono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).