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Mendeliome v0.3119 CHD1L Zornitza Stark Tag disputed tag was added to gene: CHD1L.
Mendeliome v0.3119 CHD1L Zornitza Stark reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: None; Publications: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.730 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Genetic Epilepsy v0.730 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Genetic Epilepsy v0.730 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98, MIM# 300912
Genetic Epilepsy v0.729 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Genetic Epilepsy v0.728 NEXMIF Zornitza Stark Mode of inheritance for gene: NEXMIF 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)
Genetic Epilepsy v0.727 NEXMIF Zornitza Stark reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98, MIM# 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2702 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Intellectual disability syndromic and non-syndromic v0.2702 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2702 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98, MIM# 300912
Intellectual disability syndromic and non-syndromic v0.2701 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Intellectual disability syndromic and non-syndromic v0.2700 NEXMIF Zornitza Stark Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2699 NEXMIF Zornitza Stark reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; 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 v0.3119 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Mendeliome v0.3119 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Mendeliome v0.3119 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98 300912
Mendeliome v0.3118 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Mendeliome v0.3117 NEXMIF Zornitza Stark Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3116 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Mendeliome v0.3116 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Mendeliome v0.3116 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from to Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
Mendeliome v0.3115 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3114 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Mendeliome v0.3114 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Mendeliome v0.3114 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2, 300867
Mendeliome v0.3113 KDM6A Zornitza Stark Publications for gene: KDM6A were set to
Mendeliome v0.3112 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A 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)
Craniosynostosis v0.81 SPECC1L Bryony Thompson Marked gene: SPECC1L as ready
Craniosynostosis v0.81 SPECC1L Bryony Thompson Gene: specc1l has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.81 SPECC1L Bryony Thompson Classified gene: SPECC1L as Amber List (moderate evidence)
Craniosynostosis v0.81 SPECC1L Bryony Thompson Gene: specc1l has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.80 SPECC1L Bryony Thompson gene: SPECC1L was added
gene: SPECC1L was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPECC1L were set to 26111080; 30472488
Phenotypes for gene: SPECC1L were set to Hypertelorism, Teebi type MIM#145420
Review for gene: SPECC1L was set to AMBER
Added comment: Three unrelated cases reported with craniosynostosis as a feature of the condition.
Sources: Expert list
Craniosynostosis v0.79 IFT122 Bryony Thompson Marked gene: IFT122 as ready
Craniosynostosis v0.79 IFT122 Bryony Thompson Gene: ift122 has been classified as Green List (High Evidence).
Craniosynostosis v0.79 IFT122 Bryony Thompson Classified gene: IFT122 as Green List (high evidence)
Craniosynostosis v0.79 IFT122 Bryony Thompson Gene: ift122 has been classified as Green List (High Evidence).
Craniosynostosis v0.78 IFT122 Bryony Thompson gene: IFT122 was added
gene: IFT122 was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 26792575; 28370949; 29037998
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 MIM#218330
Review for gene: IFT122 was set to GREEN
Added comment: Craniosynostosis has been reported as a prominent feature of the condition in greater than 10 cases.
Sources: Expert list
Craniosynostosis v0.77 GLI3 Bryony Thompson Marked gene: GLI3 as ready
Craniosynostosis v0.77 GLI3 Bryony Thompson Gene: gli3 has been classified as Green List (High Evidence).
Craniosynostosis v0.77 GLI3 Bryony Thompson Classified gene: GLI3 as Green List (high evidence)
Craniosynostosis v0.77 GLI3 Bryony Thompson Gene: gli3 has been classified as Green List (High Evidence).
Craniosynostosis v0.76 GLI3 Bryony Thompson gene: GLI3 was added
gene: GLI3 was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI3 were set to 20583172; 20570969; 21326280
Phenotypes for gene: GLI3 were set to Metopic craniosynostosis; Greig cephalopolysyndactyly syndrome MIM#175700
Review for gene: GLI3 was set to GREEN
Added comment: Metopic or sagittal synostosis has been reported as a feature of Greig cephalopolysyndactyly syndrome in at least 7 unrelated cases, and there is a supporting mouse model with craniosynostosis.
Sources: Expert list
Craniosynostosis v0.75 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.3111 KDM6A Elena Savva reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27302555, 24664873; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.3111 MEF2C Elena Savva reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 5q14.3 deletion syndrome, 613443, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3111 NEXMIF Elena Savva reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; 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 v0.3111 STAG3 Bryony Thompson Marked gene: STAG3 as ready
Mendeliome v0.3111 STAG3 Bryony Thompson Gene: stag3 has been classified as Green List (High Evidence).
Mendeliome v0.3111 STAG3 Bryony Thompson Classified gene: STAG3 as Green List (high evidence)
Mendeliome v0.3111 STAG3 Bryony Thompson Gene: stag3 has been classified as Green List (High Evidence).
Mendeliome v0.3110 STAG3 Bryony Thompson gene: STAG3 was added
gene: STAG3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Phenotypes for gene: STAG3 were set to Premature ovarian failure 8 MIM#615723
Review for gene: STAG3 was set to GREEN
Added comment: At least four unrelated families with ovarian failure and a supporting null mouse model.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Marked gene: STAG3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Gene: stag3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Phenotypes for gene: STAG3 were changed from to Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.5 STAG3 Bryony Thompson Publications for gene: STAG3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 STAG3 Bryony Thompson reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24597867, 26059840, 31803224, 31363903; Phenotypes: Premature ovarian failure 8 MIM#615723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3109 SOHLH1 Bryony Thompson Marked gene: SOHLH1 as ready
Mendeliome v0.3109 SOHLH1 Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence).
Mendeliome v0.3109 SOHLH1 Bryony Thompson Classified gene: SOHLH1 as Green List (high evidence)
Mendeliome v0.3109 SOHLH1 Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence).
Mendeliome v0.3108 SOHLH1 Bryony Thompson gene: SOHLH1 was added
gene: SOHLH1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SOHLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOHLH1 were set to 25774885; 16690745; 31042289; 20506135; 28718531
Phenotypes for gene: SOHLH1 were set to Ovarian dysgenesis 5 MIM#617690; Spermatogenic failure 32 MIM#618115
Review for gene: SOHLH1 was set to GREEN
Added comment: Women in 3 unrelated families with ovarian dysgenesis and homozygous variants, and a supporting null mouse model.
At least 4 males with heterozygous variants and spermatogenic failure.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Marked gene: SOHLH1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Phenotypes for gene: SOHLH1 were changed from to Ovarian dysgenesis 5 MIM#617690
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.3 SOHLH1 Bryony Thompson Publications for gene: SOHLH1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 SOHLH1 Bryony Thompson reviewed gene: SOHLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25774885, 16690745, 31042289; Phenotypes: Ovarian dysgenesis 5 MIM#617690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3107 HFM1 Bryony Thompson Marked gene: HFM1 as ready
Mendeliome v0.3107 HFM1 Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence).
Mendeliome v0.3107 HFM1 Bryony Thompson Classified gene: HFM1 as Green List (high evidence)
Mendeliome v0.3107 HFM1 Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence).
Mendeliome v0.3106 HFM1 Bryony Thompson gene: HFM1 was added
gene: HFM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HFM1 were set to 23555294; 24597873; 31279343
Phenotypes for gene: HFM1 were set to Premature ovarian failure 9 MIM#615724
Review for gene: HFM1 was set to GREEN
Added comment: Three cases from 2 unrelated families with compound heterozygous variants, and a single family with a heterozygous variant have been reported with ovarian failure. There is also a supporting null mouse model.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 HFM1 Bryony Thompson reviewed gene: HFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23555294, 24597873, 31279343; Phenotypes: Premature ovarian failure 9 MIM#615724; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 GDF9 Bryony Thompson Classified gene: GDF9 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 GDF9 Bryony Thompson Gene: gdf9 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 GDF9 Bryony Thompson reviewed gene: GDF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29044499, 8849725; Phenotypes: Premature ovarian failure 14 MIM#618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Craniosynostosis v0.74 ZNF462 Tiong Tan Marked gene: ZNF462 as ready
Craniosynostosis v0.74 ZNF462 Tiong Tan Gene: znf462 has been classified as Green List (High Evidence).
Craniosynostosis v0.74 ZNF462 Tiong Tan Classified gene: ZNF462 as Green List (high evidence)
Craniosynostosis v0.74 ZNF462 Tiong Tan Gene: znf462 has been classified as Green List (High Evidence).
Craniosynostosis v0.73 ZNF462 Tiong Tan gene: ZNF462 was added
gene: ZNF462 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF462 were set to 28513610
Phenotypes for gene: ZNF462 were set to WEISS-KRUSZKA SYNDROME
Penetrance for gene: ZNF462 were set to Complete
Review for gene: ZNF462 was set to GREEN
Added comment: Craniosynostosis observed in 38% of affected individuals
Sources: Literature
Craniosynostosis v0.72 WDR35 Tiong Tan Marked gene: WDR35 as ready
Craniosynostosis v0.72 WDR35 Tiong Tan Gene: wdr35 has been classified as Green List (High Evidence).
Craniosynostosis v0.72 WDR35 Tiong Tan Classified gene: WDR35 as Green List (high evidence)
Craniosynostosis v0.72 WDR35 Tiong Tan Gene: wdr35 has been classified as Green List (High Evidence).
Craniosynostosis v0.71 WDR35 Tiong Tan gene: WDR35 was added
gene: WDR35 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR35 were set to 20817137; 24123776
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA
Penetrance for gene: WDR35 were set to Complete
Review for gene: WDR35 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of Sensenbrenner/Cranioectodermal dysplasia
Sources: Literature
Craniosynostosis v0.70 SMAD3 Tiong Tan Marked gene: SMAD3 as ready
Craniosynostosis v0.70 SMAD3 Tiong Tan Gene: smad3 has been classified as Green List (High Evidence).
Craniosynostosis v0.70 SMAD3 Tiong Tan Classified gene: SMAD3 as Green List (high evidence)
Craniosynostosis v0.70 SMAD3 Tiong Tan Gene: smad3 has been classified as Green List (High Evidence).
Craniosynostosis v0.69 SMAD3 Tiong Tan gene: SMAD3 was added
gene: SMAD3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD3 were set to 20301312
Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME
Penetrance for gene: SMAD3 were set to Complete
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Craniosynostosis v0.68 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.68 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.67 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.67 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.66 TGFBR2 Tiong Tan Marked gene: TGFBR2 as ready
Craniosynostosis v0.66 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Red List (Low Evidence).
Craniosynostosis v0.66 TGFBR2 Tiong Tan gene: TGFBR2 was added
gene: TGFBR2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 15731757
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
Penetrance for gene: TGFBR2 were set to Complete
Review for gene: TGFBR2 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Craniosynostosis v0.65 TGFBR1 Tiong Tan Marked gene: TGFBR1 as ready
Craniosynostosis v0.65 TGFBR1 Tiong Tan Gene: tgfbr1 has been classified as Green List (High Evidence).
Craniosynostosis v0.65 TGFBR1 Tiong Tan Classified gene: TGFBR1 as Green List (high evidence)
Craniosynostosis v0.65 TGFBR1 Tiong Tan Gene: tgfbr1 has been classified as Green List (High Evidence).
Craniosynostosis v0.64 TGFBR1 Tiong Tan gene: TGFBR1 was added
gene: TGFBR1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR1 were set to 15731757
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
Penetrance for gene: TGFBR1 were set to Complete
Review for gene: TGFBR1 was set to GREEN
Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Craniosynostosis v0.63 SMO Tiong Tan Marked gene: SMO as ready
Craniosynostosis v0.63 SMO Tiong Tan Gene: smo has been classified as Green List (High Evidence).
Craniosynostosis v0.63 SMO Tiong Tan Classified gene: SMO as Green List (high evidence)
Craniosynostosis v0.63 SMO Tiong Tan Gene: smo has been classified as Green List (High Evidence).
Craniosynostosis v0.62 SMO Tiong Tan gene: SMO was added
gene: SMO was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMO were set to 27236920
Phenotypes for gene: SMO were set to Curry-Jones syndrome
Penetrance for gene: SMO were set to Complete
Mode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SMO was set to GREEN
Added comment: Mosaic activating variants in SMO associated with Curry-Jones syndrome - craniosynostosis is a key feature.
Sources: Literature
Craniosynostosis v0.61 SMAD6 Tiong Tan Marked gene: SMAD6 as ready
Craniosynostosis v0.61 SMAD6 Tiong Tan Gene: smad6 has been classified as Green List (High Evidence).
Craniosynostosis v0.61 SMAD6 Tiong Tan Classified gene: SMAD6 as Green List (high evidence)
Craniosynostosis v0.61 SMAD6 Tiong Tan Gene: smad6 has been classified as Green List (High Evidence).
Craniosynostosis v0.60 SMAD6 Tiong Tan gene: SMAD6 was added
gene: SMAD6 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 32499606; 27606499
Phenotypes for gene: SMAD6 were set to non-syndromic craniosynostosis
Penetrance for gene: SMAD6 were set to Incomplete
Review for gene: SMAD6 was set to GREEN
Added comment: Penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function.
Sources: Literature
Craniosynostosis v0.59 SKI Tiong Tan Classified gene: SKI as Green List (high evidence)
Craniosynostosis v0.59 SKI Tiong Tan Gene: ski has been classified as Green List (High Evidence).
Craniosynostosis v0.58 SKI Tiong Tan gene: SKI was added
gene: SKI was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SKI were set to 23023332; 23103230; 24736733
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Penetrance for gene: SKI were set to Complete
Mode of pathogenicity for gene: SKI was set to Other
Review for gene: SKI was set to GREEN
Added comment: Mutational hotspot suggests a mechanism that is not LOF
Sources: Literature
Craniosynostosis v0.57 SHOC2 Tiong Tan Marked gene: SHOC2 as ready
Craniosynostosis v0.57 SHOC2 Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.57 SHOC2 Tiong Tan Classified gene: SHOC2 as Amber List (moderate evidence)
Craniosynostosis v0.57 SHOC2 Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.56 SHOC2 Tiong Tan gene: SHOC2 was added
gene: SHOC2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 28650561; 25123707
Phenotypes for gene: SHOC2 were set to Noonan syndrome with loose anagen hair
Penetrance for gene: SHOC2 were set to Complete
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SHOC2 was set to AMBER
Added comment: Two unrelated individuals with SHOC2-related Noonan syndrome and craniosynostosis; other Noonan syndrome genotypes have higher incidence of craniosynostosis.
Sources: Literature
Craniosynostosis v0.55 MEGF8 Tiong Tan Marked gene: MEGF8 as ready
Craniosynostosis v0.55 MEGF8 Tiong Tan Gene: megf8 has been classified as Green List (High Evidence).
Craniosynostosis v0.55 MEGF8 Tiong Tan Classified gene: MEGF8 as Green List (high evidence)
Craniosynostosis v0.55 MEGF8 Tiong Tan Gene: megf8 has been classified as Green List (High Evidence).
Craniosynostosis v0.54 MEGF8 Tiong Tan gene: MEGF8 was added
gene: MEGF8 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF8 were set to 23063620
Phenotypes for gene: MEGF8 were set to Carpenter syndrome
Penetrance for gene: MEGF8 were set to Complete
Review for gene: MEGF8 was set to GREEN
Added comment: Craniosynostosis is a key feature of Carpenter syndrome - identified in 4/4 unrelated individuals with MEGF8 biallelic variants
Sources: Literature
Craniosynostosis v0.53 MASP1 Tiong Tan Classified gene: MASP1 as Green List (high evidence)
Craniosynostosis v0.53 MASP1 Tiong Tan Gene: masp1 has been classified as Green List (High Evidence).
Craniosynostosis v0.52 MASP1 Tiong Tan gene: MASP1 was added
gene: MASP1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MASP1 were set to 7677137; 21258343
Phenotypes for gene: MASP1 were set to 3MC syndrome
Penetrance for gene: MASP1 were set to Complete
Review for gene: MASP1 was set to GREEN
Added comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Mendeliome v0.3105 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Mendeliome v0.3105 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Mendeliome v0.3105 NEK9 Zornitza Stark Phenotypes for gene: NEK9 were changed from to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Mendeliome v0.3104 NEK9 Zornitza Stark Publications for gene: NEK9 were set to
Mendeliome v0.3103 NEK9 Zornitza Stark Mode of inheritance for gene: NEK9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3102 NEK9 Zornitza Stark Classified gene: NEK9 as Red List (low evidence)
Mendeliome v0.3102 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Mendeliome v0.3101 NEK9 Zornitza Stark reviewed gene: NEK9: Rating: RED; Mode of pathogenicity: None; Publications: 26908619; Phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Skeletal Dysplasia_Fetal. Sources: Expert list
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Review for gene: NEK9 was set to RED
Added comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.
Sources: Expert list
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Skeletal dysplasia v0.33 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.33 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Review for gene: NEK9 was set to RED
Added comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.
Sources: Expert list
Mendeliome v0.3101 MSTN Zornitza Stark Marked gene: MSTN as ready
Mendeliome v0.3101 MSTN Zornitza Stark Gene: mstn has been classified as Red List (Low Evidence).
Mendeliome v0.3101 MSTN Zornitza Stark Phenotypes for gene: MSTN were changed from to Muscle hypertrophy, MIM# 614160
Mendeliome v0.3100 MSTN Zornitza Stark Publications for gene: MSTN were set to
Mendeliome v0.3099 MSTN Zornitza Stark Mode of inheritance for gene: MSTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3098 MSTN Zornitza Stark Classified gene: MSTN as Red List (low evidence)
Mendeliome v0.3098 MSTN Zornitza Stark Gene: mstn has been classified as Red List (Low Evidence).
Mendeliome v0.3097 MSTN Zornitza Stark reviewed gene: MSTN: Rating: RED; Mode of pathogenicity: None; Publications: 15215484; Phenotypes: Muscle hypertrophy, MIM# 614160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3097 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Mendeliome v0.3097 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Green List (High Evidence).
Mendeliome v0.3097 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from to Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v0.3096 HSPB8 Zornitza Stark Publications for gene: HSPB8 were set to
Mendeliome v0.3095 HSPB8 Zornitza Stark Mode of inheritance for gene: HSPB8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3094 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32165108, 31403083, 28780615, 15122253, 26718575; Phenotypes: Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: None
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Marked gene: DYSF as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Gene: dysf has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Publications for gene: DYSF were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Publications for gene: DNAJB6 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 STAG3 Bryony Thompson gene: STAG3 was added
gene: STAG3 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 SOHLH1 Bryony Thompson gene: SOHLH1 was added
gene: SOHLH1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOHLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 HFM1 Bryony Thompson gene: HFM1 was added
gene: HFM1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFM1 were set to Premature ovarian failure 9,615724
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FSHB Bryony Thompson gene: FSHB was added
gene: FSHB was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia 229070
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure 615889
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 WT1 Bryony Thompson gene: WT1 was added
gene: WT1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WT1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 WDR11 Bryony Thompson gene: WDR11 was added
gene: WDR11 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR11 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TACR3 Bryony Thompson gene: TACR3 was added
gene: TACR3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TACR3 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TAC3 Bryony Thompson gene: TAC3 was added
gene: TAC3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TAC3 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 STAR Bryony Thompson gene: STAR was added
gene: STAR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: STAR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 SEMA3A Bryony Thompson gene: SEMA3A was added
gene: SEMA3A was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA3A was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PSMC3IP Bryony Thompson gene: PSMC3IP was added
gene: PSMC3IP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PSMC3IP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMC3IP were set to Ovarian dysgenesis 3,614324
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PROKR2 Bryony Thompson gene: PROKR2 was added
gene: PROKR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PROK2 Bryony Thompson gene: PROK2 was added
gene: PROK2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROK2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 POR Bryony Thompson gene: POR was added
gene: POR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal recessive 1 258450; Progressive external ophthalmoplegia, autosomal dominant 1 157640
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NUP107 Bryony Thompson gene: NUP107 was added
gene: NUP107 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NR5A1 Bryony Thompson gene: NR5A1 was added
gene: NR5A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR5A1 were set to Spermatogenic failure 8,613957; 46XY sex reversal 3,612965; Premature ovarian failure 7,612964
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NOBOX Bryony Thompson gene: NOBOX was added
gene: NOBOX was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NOBOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOBOX were set to Premature ovarian failure 5,611548
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 MCM9 Bryony Thompson gene: MCM9 was added
gene: MCM9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM9 were set to Ovarian dysgenesis 4, 616185
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 MCM8 Bryony Thompson gene: MCM8 was added
gene: MCM8 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM8 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LHCGR Bryony Thompson gene: LHCGR was added
gene: LHCGR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LHCGR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LHB Bryony Thompson gene: LHB was added
gene: LHB was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LHB was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4 615300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 KISS1R Bryony Thompson gene: KISS1R was added
gene: KISS1R was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KISS1R was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 KISS1 Bryony Thompson gene: KISS1 was added
gene: KISS1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KISS1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 HSD17B4 Bryony Thompson gene: HSD17B4 was added
gene: HSD17B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1 233400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GNAS Bryony Thompson gene: GNAS was added
gene: GNAS was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAS was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GDF9 Bryony Thompson gene: GDF9 was added
gene: GDF9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GDF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FSHR Bryony Thompson gene: FSHR was added
gene: FSHR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FOXL2 Bryony Thompson gene: FOXL2 was added
gene: FOXL2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXL2 were set to Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100; Premature ovarian failure 3,608996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FMR1 Bryony Thompson gene: FMR1 was added
gene: FMR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FMR1 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: FMR1 were set to Fragile X tremor ataxia syndrome, 300623; Fragile X syndrome, 300624; Premature ovarian failure 1, 311360
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FIGLA Bryony Thompson gene: FIGLA was added
gene: FIGLA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FIGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FIGLA were set to Premature ovarian failure,612310
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FGFR1 Bryony Thompson gene: FGFR1 was added
gene: FGFR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 ESR1 Bryony Thompson gene: ESR1 was added
gene: ESR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ESR1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CYP19A1 Bryony Thompson gene: CYP19A1 was added
gene: CYP19A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CYP17A1 Bryony Thompson gene: CYP17A1 was added
gene: CYP17A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase, 17,20-lyase deficiency 202110
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3 614129
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Perrault syndrome 5, 616138
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 BMP15 Bryony Thompson gene: BMP15 was added
gene: BMP15 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BMP15 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: BMP15 were set to Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AMHR2 Bryony Thompson gene: AMHR2 was added
gene: AMHR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMHR2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AMH Bryony Thompson gene: AMH was added
gene: AMH was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMH was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AIRE Bryony Thompson gene: AIRE was added
gene: AIRE was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIRE was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 Bryony Thompson Added panel Amenorrhoea
Glycogen Storage Diseases v0.8 GAA Crystle Lee reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701; Phenotypes: Glycogen storage disease II (MIM#232300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.65 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Arthrogryposis v0.65 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Arthrogryposis v0.65 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)
Arthrogryposis v0.64 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Arthrogryposis v0.63 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Classified gene: CAVIN1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.15 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.14 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Review for gene: CAVIN1 was set to GREEN
Added comment: Gene also known as PTRF. Multiple families reported with onset of disease in childhood, muscular dystrophy is a feature.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.56 AMPD1 Zornitza Stark Marked gene: AMPD1 as ready
Rhabdomyolysis and Metabolic Myopathy v0.56 AMPD1 Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.56 AMPD1 Zornitza Stark Classified gene: AMPD1 as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.56 AMPD1 Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.55 AMPD1 Zornitza Stark Tag disputed tag was added to gene: AMPD1.
Rhabdomyolysis and Metabolic Myopathy v0.55 AMPD1 Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3094 AMPD1 Zornitza Stark Marked gene: AMPD1 as ready
Mendeliome v0.3094 AMPD1 Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence).
Mendeliome v0.3094 AMPD1 Zornitza Stark Phenotypes for gene: AMPD1 were changed from to Myopathy due to myoadenylate deaminase deficiency (MIM#615511)
Mendeliome v0.3093 AMPD1 Zornitza Stark Publications for gene: AMPD1 were set to
Mendeliome v0.3092 AMPD1 Zornitza Stark Mode of inheritance for gene: AMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3091 AMPD1 Zornitza Stark Classified gene: AMPD1 as Red List (low evidence)
Mendeliome v0.3091 AMPD1 Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence).
Mendeliome v0.3090 AMPD1 Zornitza Stark Tag disputed tag was added to gene: AMPD1.
Mendeliome v0.3090 AMPD1 Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 DYSF Crystle Lee reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23243261; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 2 (MIM#253601); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.105 GPT2 Bryony Thompson Marked gene: GPT2 as ready
Hereditary Spastic Paraplegia v0.105 GPT2 Bryony Thompson Gene: gpt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.105 GPT2 Bryony Thompson Classified gene: GPT2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.105 GPT2 Bryony Thompson Gene: gpt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.104 GPT2 Bryony Thompson gene: GPT2 was added
gene: GPT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 29882329; 31471722; 27601654
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281
Review for gene: GPT2 was set to GREEN
Added comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 DNAJB6 Crystle Lee reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 (MIM#603511); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v0.62 CHST14 Crystle Lee reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.219 UBTF Bryony Thompson changed review comment from: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list; to: Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list
Ataxia v0.219 UBTF Bryony Thompson Marked gene: UBTF as ready
Ataxia v0.219 UBTF Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence).
Ataxia v0.219 UBTF Bryony Thompson Classified gene: UBTF as Green List (high evidence)
Ataxia v0.219 UBTF Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence).
Ataxia v0.218 UBTF Bryony Thompson gene: UBTF was added
gene: UBTF was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBTF were set to 29300972
Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Review for gene: UBTF was set to GREEN
Added comment: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list
Mendeliome v0.3090 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies
Mendeliome v0.3089 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.59 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies
Anophthalmia_Microphthalmia_Coloboma v0.58 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2699 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies
Intellectual disability syndromic and non-syndromic v0.2699 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies
Intellectual disability syndromic and non-syndromic v0.2698 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.217 MTFMT Bryony Thompson Marked gene: MTFMT as ready
Ataxia v0.217 MTFMT Bryony Thompson Gene: mtfmt has been classified as Green List (High Evidence).
Ataxia v0.217 MTFMT Bryony Thompson Classified gene: MTFMT as Green List (high evidence)
Ataxia v0.217 MTFMT Bryony Thompson Gene: mtfmt has been classified as Green List (High Evidence).
Ataxia v0.216 MTFMT Bryony Thompson gene: MTFMT was added
gene: MTFMT was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 26060307; 24461907
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Review for gene: MTFMT was set to GREEN
Added comment: Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition.
Sources: Expert list
Ataxia v0.215 FA2H Bryony Thompson Marked gene: FA2H as ready
Ataxia v0.215 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Ataxia v0.215 FA2H Bryony Thompson Classified gene: FA2H as Green List (high evidence)
Ataxia v0.215 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Ataxia v0.214 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 31135052
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319
Review for gene: FA2H was set to GREEN
Added comment: Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert list
Leukodystrophy v0.133 FDX2 Bryony Thompson Marked gene: FDX2 as ready
Leukodystrophy v0.133 FDX2 Bryony Thompson Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.133 FDX2 Bryony Thompson Classified gene: FDX2 as Amber List (moderate evidence)
Leukodystrophy v0.133 FDX2 Bryony Thompson Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.132 FDX2 Bryony Thompson gene: FDX2 was added
gene: FDX2 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 30010796
Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Review for gene: FDX2 was set to AMBER
Added comment: Two apparently unrelated consanguineous Brazilian families reported with reversible leukoencephalopathy with a paediatric onset as a feature of the condition.
Sources: Expert list
Leukodystrophy v0.131 COA7 Bryony Thompson Marked gene: COA7 as ready
Leukodystrophy v0.131 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Leukodystrophy v0.131 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Leukodystrophy v0.131 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Leukodystrophy v0.130 COA7 Bryony Thompson changed review comment from: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition.
Sources: Expert list; to: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset.
Sources: Expert list
Leukodystrophy v0.130 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition.
Sources: Expert list
Leukodystrophy v0.129 AP4B1 Bryony Thompson Marked gene: AP4B1 as ready
Leukodystrophy v0.129 AP4B1 Bryony Thompson Gene: ap4b1 has been classified as Green List (High Evidence).
Leukodystrophy v0.129 AP4B1 Bryony Thompson Classified gene: AP4B1 as Green List (high evidence)
Leukodystrophy v0.129 AP4B1 Bryony Thompson Gene: ap4b1 has been classified as Green List (High Evidence).
Leukodystrophy v0.128 AP4B1 Bryony Thompson gene: AP4B1 was added
gene: AP4B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 29193663
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive MIM#614066
Review for gene: AP4B1 was set to GREEN
Added comment: White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is paediatric.
Sources: Expert list
Craniosynostosis v0.51 PTPN11 Tiong Tan Marked gene: PTPN11 as ready
Craniosynostosis v0.51 PTPN11 Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence).
Craniosynostosis v0.51 PTPN11 Tiong Tan Classified gene: PTPN11 as Green List (high evidence)
Craniosynostosis v0.51 PTPN11 Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence).
Craniosynostosis v0.50 PTPN11 Tiong Tan gene: PTPN11 was added
gene: PTPN11 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 28650561
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Penetrance for gene: PTPN11 were set to Complete
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PTPN11 was set to GREEN
Added comment: Three unrelated individuals with PTPN11-related Noonan syndrome and craniosynostosis
Sources: Literature
Craniosynostosis v0.49 BRAF Tiong Tan Marked gene: BRAF as ready
Craniosynostosis v0.49 BRAF Tiong Tan Gene: braf has been classified as Green List (High Evidence).
Craniosynostosis v0.49 BRAF Tiong Tan Classified gene: BRAF as Green List (high evidence)
Craniosynostosis v0.49 BRAF Tiong Tan Gene: braf has been classified as Green List (High Evidence).
Craniosynostosis v0.48 BRAF Tiong Tan gene: BRAF was added
gene: BRAF was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 28650561
Phenotypes for gene: BRAF were set to CFC
Penetrance for gene: BRAF were set to Complete
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: BRAF was set to GREEN
Added comment: Four unrelated individuals with CFC and craniosynostosis
Sources: Literature
Craniosynostosis v0.47 KRAS Tiong Tan Marked gene: KRAS as ready
Craniosynostosis v0.47 KRAS Tiong Tan Gene: kras has been classified as Green List (High Evidence).
Craniosynostosis v0.47 KRAS Tiong Tan Classified gene: KRAS as Green List (high evidence)
Craniosynostosis v0.47 KRAS Tiong Tan Gene: kras has been classified as Green List (High Evidence).
Craniosynostosis v0.46 KRAS Tiong Tan gene: KRAS was added
gene: KRAS was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 26249544; 28650561
Phenotypes for gene: KRAS were set to Noonan syndrome
Penetrance for gene: KRAS were set to Complete
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KRAS was set to GREEN
Added comment: 10% of all individuals with KRAS-related Noonan syndrome have craniosynostosis
Sources: Literature
Craniosynostosis v0.45 KAT6A Tiong Tan Classified gene: KAT6A as Green List (high evidence)
Craniosynostosis v0.45 KAT6A Tiong Tan Gene: kat6a has been classified as Green List (High Evidence).
Craniosynostosis v0.44 KAT6A Tiong Tan Classified gene: KAT6A as Green List (high evidence)
Craniosynostosis v0.44 KAT6A Tiong Tan Gene: kat6a has been classified as Green List (High Evidence).
Craniosynostosis v0.43 KAT6A Tiong Tan Marked gene: KAT6A as ready
Craniosynostosis v0.43 KAT6A Tiong Tan Gene: kat6a has been classified as Red List (Low Evidence).
Craniosynostosis v0.43 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Craniosynostosis v0.42 KAT6A Tiong Tan gene: KAT6A was added
gene: KAT6A was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6A were set to 30245513; 25728777
Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome
Penetrance for gene: KAT6A were set to Complete
Review for gene: KAT6A was set to GREEN
Added comment: Low frequency association of craniosynostosis in Arboleda-Tham syndrome. Six individuals reported in two publications.
Sources: Literature
Craniosynostosis v0.41 FLNA Tiong Tan Marked gene: FLNA as ready
Craniosynostosis v0.41 FLNA Tiong Tan Gene: flna has been classified as Green List (High Evidence).
Craniosynostosis v0.41 FLNA Tiong Tan Classified gene: FLNA as Green List (high evidence)
Craniosynostosis v0.41 FLNA Tiong Tan Gene: flna has been classified as Green List (High Evidence).
Craniosynostosis v0.40 FLNA Tiong Tan gene: FLNA was added
gene: FLNA was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 25873011; 16835913; 21031081
Phenotypes for gene: FLNA were set to otopalatodigital spectrum
Penetrance for gene: FLNA were set to Complete
Mode of pathogenicity for gene: FLNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FLNA was set to GREEN
Added comment: LOF variants cause PVNH; GOF variants cause OPD spectrum. Craniosynostosis is a low frequency association with FLNA-related OPD spectrum. Six unrelated probands reported in three publications.
Sources: Literature
Hereditary Spastic Paraplegia v0.103 ARL6IP1 Zornitza Stark Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035
Hereditary Spastic Paraplegia v0.102 ARL6IP1 Zornitza Stark Phenotypes for gene: ARL6IP1 were changed from ?Spastic paraplegia 61, autosomal recessive, MIM#615685 to Spastic paraplegia 61, autosomal recessive, MIM#615685
Hereditary Spastic Paraplegia v0.101 ARL6IP1 Zornitza Stark Marked gene: ARL6IP1 as ready
Hereditary Spastic Paraplegia v0.101 ARL6IP1 Zornitza Stark Gene: arl6ip1 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.10 NOTCH3 Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.10 NOTCH3 Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.9 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Expert list
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH3 were set to 22250206; 10356105; 27881154; 28271496
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Review for gene: NOTCH3 was set to AMBER
Added comment: Migraine with aura is a common feature of CADASIL and the condition can be misdiagnosed as familial hemiplegic migraine. However, can only find one family reported with a confirmed NOTCH3 variant and a diagnosis of hemiplegic migraine (PMID: 22250206).
Sources: Expert list
Alternating Hemiplegia and Hemiplegic Migraine v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.3089 DCAF8 Bryony Thompson Classified gene: DCAF8 as Amber List (moderate evidence)
Mendeliome v0.3089 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3088 DCAF8 Bryony Thompson gene: DCAF8 was added
gene: DCAF8 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCAF8 were set to 24500646
Phenotypes for gene: DCAF8 were set to Giant axonal neuropathy 2, autosomal dominant MIM#610100
Review for gene: DCAF8 was set to AMBER
Added comment: A single large family segregating a missense variant and in vitro functional assays demonstrating the variant reduces the association of DCAF8 and DDB1, which is important in Cul4-ubiquitin E3 function
Sources: Expert list
Hereditary Neuropathy v0.64 DCAF8 Bryony Thompson Classified gene: DCAF8 as Amber List (moderate evidence)
Hereditary Neuropathy v0.64 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.63 DCAF8 Bryony Thompson edited their review of gene: DCAF8: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.63 DCAF8 Bryony Thompson reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24500646; Phenotypes: Giant axonal neuropathy 2, autosomal dominant MIM#610100; Mode of inheritance: None
Mendeliome v0.3087 ARL6IP1 Bryony Thompson Marked gene: ARL6IP1 as ready
Mendeliome v0.3087 ARL6IP1 Bryony Thompson Gene: arl6ip1 has been classified as Green List (High Evidence).
Mendeliome v0.3087 ARL6IP1 Bryony Thompson Classified gene: ARL6IP1 as Green List (high evidence)
Mendeliome v0.3087 ARL6IP1 Bryony Thompson Gene: arl6ip1 has been classified as Green List (High Evidence).
Mendeliome v0.3086 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 24482476; 31272422; 30980493; 28471035
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive MIM#615685
Review for gene: ARL6IP1 was set to GREEN
gene: ARL6IP1 was marked as current diagnostic
Added comment: At least 4 families reported with paediatric onset complicated spastic paraplegia and neuropathy. Supporting zebrafish model.
Sources: Expert list
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson Marked gene: ARL6IP1 as ready
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson Gene: arl6ip1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.63 ARL6IP1 Bryony Thompson reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3085 RFC1 Bryony Thompson Tag STR tag was added to gene: RFC1.
Mendeliome v0.3085 PMP2 Bryony Thompson Marked gene: PMP2 as ready
Mendeliome v0.3085 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Mendeliome v0.3085 PMP2 Bryony Thompson Classified gene: PMP2 as Green List (high evidence)
Mendeliome v0.3085 PMP2 Bryony Thompson Gene: pmp2 has been classified as Green List (High Evidence).
Mendeliome v0.3084 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMP2 were set to 26257172; 26828946; 27009151
Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G MIM#618279
Review for gene: PMP2 was set to GREEN
Added comment: 4 unrelated families reported with missense variants, with supporting transgenic mouse and null zebrafish models.
Sources: Expert list
Mendeliome v0.3083 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Mendeliome v0.3082 HPRT1 Zornitza Stark Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3081 HPRT1 Ain Roesley reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20176575; Phenotypes: HPRT-related gout (MIM# 300323), Lesch-Nyhan syndrome (MIM# 300322); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3081 ASTN2 Zornitza Stark Phenotypes for gene: ASTN2 were changed from to Intellectual disability
Mendeliome v0.3080 ASTN2 Zornitza Stark Publications for gene: ASTN2 were set to
Mendeliome v0.3079 ASTN2 Zornitza Stark Mode of inheritance for gene: ASTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3078 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Changed phenotypes: Intellectual disability
Mendeliome v0.3078 ASTN2 Zornitza Stark edited their review of gene: ASTN2: Changed phenotypes: Intellectual disability, microcephaly
Arthrogryposis v0.62 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Arthrogryposis v0.62 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Arthrogryposis v0.62 ASCC1 Zornitza Stark Classified gene: ASCC1 as Green List (high evidence)
Arthrogryposis v0.62 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.55 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Rhabdomyolysis and Metabolic Myopathy v0.55 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.55 ATP2A1 Zornitza Stark Classified gene: ATP2A1 as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v0.55 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.54 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 32040565
Phenotypes for gene: ATP2A1 were set to Brody myopathy, MIM# 601003
Review for gene: ATP2A1 was set to AMBER
Added comment: Two patients reported with rhabdomyolysis
Sources: Expert list
Mendeliome v0.3078 SI Zornitza Stark Marked gene: SI as ready
Mendeliome v0.3078 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Mendeliome v0.3078 SI Zornitza Stark Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital #222900
Mendeliome v0.3077 SI Zornitza Stark Publications for gene: SI were set to
Mendeliome v0.3076 SI Zornitza Stark Mode of inheritance for gene: SI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.18 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Hydrocephalus_Ventriculomegaly v0.18 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.18 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.18 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia v0.11 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Familial hypercholesterolaemia v0.11 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia v0.11 CAV3 Zornitza Stark Publications for gene: CAV3 were set to PMID: 32004987; 28807458
Familial hypercholesterolaemia v0.10 CAV3 Zornitza Stark Classified gene: CAV3 as Amber List (moderate evidence)
Familial hypercholesterolaemia v0.10 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia v0.9 CAV3 Elena Savva gene: CAV3 was added
gene: CAV3 was added to Familial hypercholesterolaemia. Sources: Literature
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAV3 were set to PMID: 32004987; 28807458
Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072
Review for gene: CAV3 was set to AMBER
Added comment: PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.

PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.

Summary: 2 patients reported
Sources: Literature
Mendeliome v0.3075 SV2B Seb Lunke Marked gene: SV2B as ready
Mendeliome v0.3075 SV2B Seb Lunke Gene: sv2b has been classified as Red List (Low Evidence).
Mendeliome v0.3075 SV2B Seb Lunke gene: SV2B was added
gene: SV2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SV2B was set to Unknown
Publications for gene: SV2B were set to 23617838; 23937191
Phenotypes for gene: SV2B were set to seizures
Review for gene: SV2B was set to RED
Added comment: Multiply described in Epilepsy studies investigating role of SV2 gene family, however no patients directly attributed to variants in this gene and mouse models indicate viability without seizures. Sources: Literature
Sources: Literature
Genetic Epilepsy v0.727 SV2B Seb Lunke Marked gene: SV2B as ready
Genetic Epilepsy v0.727 SV2B Seb Lunke Gene: sv2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.727 SV2B Seb Lunke gene: SV2B was added
gene: SV2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SV2B was set to Unknown
Publications for gene: SV2B were set to 23617838; 23937191
Phenotypes for gene: SV2B were set to seizures
Review for gene: SV2B was set to RED
Added comment: Multiply described in Epilepsy studies investigating role of SV2 gene family, however no patients directly attributed to variants in this gene and mouse models indicate viability without seizures.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.17 B4GAT1 Elena Savva gene: B4GAT1 was added
gene: B4GAT1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID: 23359570; 23877401
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
Review for gene: B4GAT1 was set to AMBER
Added comment: aka B3GNT1 (OMIM)

PMID: 23359570 - One family with congenital muscular dystrophy. Index patient had hydrocephalus, seizures, severe hypotonia and retinal dysplasia. Patients were homozygous for TWO missense

PMID: 23877401 - One family with congenital onset Walker-warburg syndrome and hydrocephalus, seizure and cognitive impairment.

Summary: 2 families with hydrocephalus
Sources: Expert list
Mendeliome v0.3074 ADGRG1 Elena Savva reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24531968; Phenotypes: Polymicrogyria, bilateral frontoparietal 606854, Polymicrogyria, bilateral perisylvian 615752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3074 SI Elena Savva reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3149304, 31557950; Phenotypes: Sucrase-isomaltase deficiency, congenital #222900; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.3074 RYR3 Zornitza Stark Marked gene: RYR3 as ready
Mendeliome v0.3074 RYR3 Zornitza Stark Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3074 RYR3 Zornitza Stark Classified gene: RYR3 as Amber List (moderate evidence)
Mendeliome v0.3074 RYR3 Zornitza Stark Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3073 RYR3 Zornitza Stark gene: RYR3 was added
gene: RYR3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR3 were set to 29498452; 32451403; 31230720
Phenotypes for gene: RYR3 were set to Nemaline myopathy; fetal akinesia; arthrogryposis
Review for gene: RYR3 was set to AMBER
Added comment: One family reported with nemaline myopathy and other cases reported as part of large fetal akinesia/arthrogryposis discovery cohorts reporting multiple novel gene candidates.
Sources: Expert list
Arthrogryposis v0.61 ASCC1 Elena Savva gene: ASCC1 was added
gene: ASCC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 28218388; 30327447; 26924529
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Review for gene: ASCC1 was set to GREEN
Added comment: PMID: 28218388 - 1 Portuguese child with a homozygous PTC and mild arthrogryposis, and ongenital generalized hypotonia, lack of spontaneous movements and atrophic muscle fibres. Papers reviews another report (PMID: 26924529) where the Turkish patient also had arthrogryposis and the same homozygous PTC

PMID: 30327447 - 3 unrelated families with severe prenatal onset muscle weakness, neonatal hypotonia and arthrogryposis. All families had biallelic PTCs, where one family was homozygous and another compound heterozygous for the recurring p.Glu53fs*19 mutation.
Sources: Literature
Long QT Syndrome v0.59 KCNE2 Zornitza Stark Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3072 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Mendeliome v0.3072 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Mendeliome v0.3072 SCN3A Zornitza Stark Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development
Mendeliome v0.3071 SCN3A Zornitza Stark Publications for gene: SCN3A were set to
Mendeliome v0.3070 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Mendeliome v0.3069 SCN3A Zornitza Stark Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3068 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2698 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Intellectual disability syndromic and non-syndromic v0.2698 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2698 SCN3A Zornitza Stark Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development
Intellectual disability syndromic and non-syndromic v0.2697 SCN3A Zornitza Stark Publications for gene: SCN3A were set to
Intellectual disability syndromic and non-syndromic v0.2696 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2695 SCN3A Zornitza Stark Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2694 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.726 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Genetic Epilepsy v0.726 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.726 SCN3A Zornitza Stark Phenotypes for gene: SCN3A were changed from to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development
Genetic Epilepsy v0.725 SCN3A Zornitza Stark Publications for gene: SCN3A were set to
Genetic Epilepsy v0.724 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Genetic Epilepsy v0.723 SCN3A Zornitza Stark Mode of inheritance for gene: SCN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.722 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32515017; Phenotypes: Epilepsy, familial focal, with variable foci 4, MIM# 617935, Epileptic encephalopathy, early infantile, 62, MIM# 617938, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3068 HMGA2 Zornitza Stark Phenotypes for gene: HMGA2 were changed from Silver-Russel syndrome to Silver-Russel syndrome, MIM#618908
Mendeliome v0.3067 HMGA2 Zornitza Stark Publications for gene: HMGA2 were set to 29655892; 25809938
Mendeliome v0.3066 HMGA2 Zornitza Stark Classified gene: HMGA2 as Green List (high evidence)
Mendeliome v0.3066 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Green List (High Evidence).
Mendeliome v0.3065 HMGA2 Zornitza Stark edited their review of gene: HMGA2: Added comment: At least four families reported with SNVs.; Changed rating: GREEN; Changed publications: 29655892, 25809938, 29453418, 29655892, 28796236; Changed phenotypes: Silver-Russel syndrome, MIM#618908
Mendeliome v0.3065 PLAG1 Zornitza Stark Marked gene: PLAG1 as ready
Mendeliome v0.3065 PLAG1 Zornitza Stark Gene: plag1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3065 PLAG1 Zornitza Stark Phenotypes for gene: PLAG1 were changed from to Silver-Russell syndrome, MIM#618907
Mendeliome v0.3064 PLAG1 Zornitza Stark Publications for gene: PLAG1 were set to
Mendeliome v0.3063 PLAG1 Zornitza Stark Mode of inheritance for gene: PLAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3062 PLAG1 Zornitza Stark Classified gene: PLAG1 as Amber List (moderate evidence)
Mendeliome v0.3062 PLAG1 Zornitza Stark Gene: plag1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3061 PLAG1 Zornitza Stark reviewed gene: PLAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28796236, 29913240; Phenotypes: Silver-Russell syndrome, MIM#618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Marked gene: MEFV as ready
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever, AD, MIM# 134610; Familial Mediterranean fever, AR, MIM# 249100; Neutrophilic dermatosis, MIM#608068
Autoinflammatory Disorders v0.82 MEFV Zornitza Stark Publications for gene: MEFV were set to
Autoinflammatory Disorders v0.81 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.80 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: 27030597, 28835462; Phenotypes: Familial Mediterranean fever, AD, MIM# 134610, Familial Mediterranean fever, AR, MIM# 249100, Neutrophilic dermatosis, MIM#608068; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2694 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Intellectual disability syndromic and non-syndromic v0.2694 KIF1BP Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name KIFBP.
Intellectual disability syndromic and non-syndromic v0.2694 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2694 KIF1BP Zornitza Stark Tag new gene name tag was added to gene: KIF1BP.
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is KIFBP.
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome MIM#609460 to Goldberg-Shprintzen megacolon syndrome MIM#609460
Polymicrogyria and Schizencephaly v0.87 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome MIM#609460
Polymicrogyria and Schizencephaly v0.86 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.86 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.85 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Tag new gene name tag was added to gene: KIF1BP.
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3061 NEFH Zornitza Stark Marked gene: NEFH as ready
Mendeliome v0.3061 NEFH Zornitza Stark Gene: nefh has been classified as Green List (High Evidence).
Mendeliome v0.3061 NEFH Zornitza Stark Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924
Mendeliome v0.3060 NEFH Zornitza Stark Publications for gene: NEFH were set to
Mendeliome v0.3059 NEFH Zornitza Stark Mode of pathogenicity for gene: NEFH was changed from to Other
Mendeliome v0.3058 NEFH Zornitza Stark Mode of inheritance for gene: NEFH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2694 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Intellectual disability syndromic and non-syndromic v0.2694 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2694 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Intellectual disability syndromic and non-syndromic v0.2693 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Autism v0.100 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Autism v0.100 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2692 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.100 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Intellectual disability syndromic and non-syndromic v0.2691 SLC6A1 Zornitza Stark reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.99 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Autism v0.98 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.97 SLC6A1 Zornitza Stark reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.722 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Genetic Epilepsy v0.722 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.722 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Genetic Epilepsy v0.721 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Genetic Epilepsy v0.720 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.719 SLC6A1 Zornitza Stark reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3057 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Mendeliome v0.3057 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Mendeliome v0.3057 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Mendeliome v0.3056 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Mendeliome v0.3055 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3054 GATM Zornitza Stark Marked gene: GATM as ready
Mendeliome v0.3054 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Mendeliome v0.3054 GATM Zornitza Stark Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, MIM# 612718; Fanconi renotubular syndrome 1, MIM# 134600
Mendeliome v0.3053 GATM Zornitza Stark Publications for gene: GATM were set to
Mendeliome v0.3052 GATM Zornitza Stark Mode of inheritance for gene: GATM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3051 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973, 29654216; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718, Fanconi renotubular syndrome 1, MIM# 134600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.121 GATM Zornitza Stark Marked gene: GATM as ready
Regression v0.121 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Regression v0.121 GATM Zornitza Stark Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, MIM# 612718
Regression v0.120 GATM Zornitza Stark Publications for gene: GATM were set to
Regression v0.119 GATM Zornitza Stark Mode of inheritance for gene: GATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.118 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2691 GATM Zornitza Stark Marked gene: GATM as ready
Intellectual disability syndromic and non-syndromic v0.2691 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2691 GATM Zornitza Stark Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, MIM# 612718
Intellectual disability syndromic and non-syndromic v0.2690 GATM Zornitza Stark Publications for gene: GATM were set to
Intellectual disability syndromic and non-syndromic v0.2689 GATM Zornitza Stark Mode of inheritance for gene: GATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2688 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark Marked gene: FUT2 as ready
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.61 FUT2 Zornitza Stark gene: FUT2 was added
gene: FUT2 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT2 were set to Norwalk virus infection, resistance to
Review for gene: FUT2 was set to RED
Added comment: Not a monogenic condition, but individuals homozygous for p.(Trp143Ter) are resistant to norovirus infection.
Sources: Expert list
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Marked gene: CCR5 as ready
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Gene: ccr5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Classified gene: CCR5 as Green List (high evidence)
Susceptibility to Viral Infections v0.60 CCR5 Zornitza Stark Gene: ccr5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.59 CCR5 Zornitza Stark gene: CCR5 was added
gene: CCR5 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: CCR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCR5 were set to {Hepatitis C virus, resistance to} 609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM# 610379
Review for gene: CCR5 was set to GREEN
Added comment: Particular SNVs in this gene are well established as conferring resistance to certain viral infections, notably HIV.
Sources: Expert list
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.58 TNFRSF4 Zornitza Stark gene: TNFRSF4 was added
gene: TNFRSF4 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: TNFRSF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF4 were set to 23897980
Phenotypes for gene: TNFRSF4 were set to Immunodeficiency 16, MIM# 615593
Review for gene: TNFRSF4 was set to RED
Added comment: Single case report in an individual with childhood-onset Kaposi's sarcoma (susceptibility to HHV8), homozygous missense variant, plausible biological candidate but direct evidence of causality limited.
Sources: Expert list
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Classified gene: MAGT1 as Green List (high evidence)
Susceptibility to Viral Infections v0.57 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.56 MAGT1 Zornitza Stark gene: MAGT1 was added
gene: MAGT1 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 21796205; 24550228; 25504528
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Review for gene: MAGT1 was set to GREEN
Added comment: Multiple unrelated families reported.
Sources: Expert list
Mendeliome v0.3051 TRIM69 Zornitza Stark Marked gene: TRIM69 as ready
Mendeliome v0.3051 TRIM69 Zornitza Stark Gene: trim69 has been classified as Red List (Low Evidence).
Mendeliome v0.3051 TRIM69 Zornitza Stark gene: TRIM69 was added
gene: TRIM69 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TRIM69 were set to 22105173
Phenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis
Review for gene: TRIM69 was set to RED
Added comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described.
Sources: Expert list
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark Marked gene: TRIM69 as ready
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark Gene: trim69 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.55 TRIM69 Zornitza Stark gene: TRIM69 was added
gene: TRIM69 was added to Susceptibility to Viral Infections. Sources: Expert list
Mode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TRIM69 were set to 22105173
Phenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis
Review for gene: TRIM69 was set to RED
Added comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described.
Sources: Expert list
Mendeliome v0.3050 SLC6A1 Chern Lim reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3050 NEFH Chern Lim reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30992180, 27040688, 28709447; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.83 KIF1BP Chloe Stutterd reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Polymicrogryia in Goldberg-Shprintzen megacolon syndrome MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.101 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Hereditary Spastic Paraplegia v0.101 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.101 TUBB4A Zornitza Stark Classified gene: TUBB4A as Green List (high evidence)
Hereditary Spastic Paraplegia v0.101 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.100 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4A were set to 23582646; 24850488
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, MIM# 612438
Review for gene: TUBB4A was set to GREEN
Added comment: Complex neurological disorder with childhood onset, spasticity is a feature.
Sources: Expert list
Hereditary Spastic Paraplegia v0.99 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Hereditary Spastic Paraplegia v0.99 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.99 RTN2 Zornitza Stark Classified gene: RTN2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.99 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.98 RTN2 Zornitza Stark gene: RTN2 was added
gene: RTN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RTN2 were set to 22232211; 27165006
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, MIM# 604805
Review for gene: RTN2 was set to GREEN
Added comment: At least 5 unrelated families reported. Variable age of onset from childhood to early adulthood.
Sources: Expert list
Hereditary Spastic Paraplegia v0.97 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Hereditary Spastic Paraplegia v0.97 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.97 PNPLA6 Zornitza Stark Classified gene: PNPLA6 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.97 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.96 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 18313024
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive, MIM# 612020
Review for gene: PNPLA6 was set to AMBER
Added comment: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood, although at least one family with onset of spasticity in childhood reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.95 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Hereditary Spastic Paraplegia v0.95 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.95 OPA3 Zornitza Stark Classified gene: OPA3 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.95 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.94 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, MIM# 258501
Review for gene: OPA3 was set to GREEN
Added comment: Onset of optic atrophy generally precedes other features including spasticity, which generally begins in the second decade.
Sources: Expert list
Hereditary Spastic Paraplegia v0.93 AP5Z1 Zornitza Stark Marked gene: AP5Z1 as ready
Hereditary Spastic Paraplegia v0.93 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.93 AP5Z1 Zornitza Stark Classified gene: AP5Z1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.93 AP5Z1 Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.92 AP5Z1 Zornitza Stark gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to 26085577
Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive, MIM# 613647
Review for gene: AP5Z1 was set to AMBER
Added comment: Onset is generally in adulthood though at least one individual with childhood onset reported.
Sources: Expert list
Hereditary Spastic Paraplegia v0.91 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Hereditary Spastic Paraplegia v0.91 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.91 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, MIM# 616586 to Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Hereditary Spastic Paraplegia v0.90 ALDH18A1 Zornitza Stark Classified gene: ALDH18A1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.90 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.89 ALDH18A1 Zornitza Stark edited their review of gene: ALDH18A1: Changed phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586, Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Hereditary Spastic Paraplegia v0.89 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 26026163; 29915212
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, MIM# 616586
Review for gene: ALDH18A1 was set to GREEN
Added comment: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families) but this tends to be with adult onset, although some childhood onset also reported.
Sources: Expert list
Early-onset Parkinson disease v0.31 PSEN2 Bryony Thompson changed review comment from: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic variants and a VUS (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other; to: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with VUS and parkinsonism as a feature of the condition and a single family with multiple members with parkinsonism with pathogenic missense variant have been reported (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other
Early-onset Parkinson disease v0.31 PSEN2 Bryony Thompson changed review comment from: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic or probable pathogenic variants (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other; to: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic variants and a VUS (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other
Early-onset Parkinson disease v0.31 PSEN2 Bryony Thompson Marked gene: PSEN2 as ready
Early-onset Parkinson disease v0.31 PSEN2 Bryony Thompson Gene: psen2 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.31 PSEN2 Bryony Thompson gene: PSEN2 was added
gene: PSEN2 was added to Early-onset Parkinson disease. Sources: Other
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 22118943; 26422362; 18427071; 29692703
Phenotypes for gene: PSEN2 were set to Parkinsonism; Alzheimer disease-4 MIM#606889
Review for gene: PSEN2 was set to RED
Added comment: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic or probable pathogenic variants (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other
Mendeliome v0.3050 LIMS2 Zornitza Stark Marked gene: LIMS2 as ready
Mendeliome v0.3050 LIMS2 Zornitza Stark Gene: lims2 has been classified as Red List (Low Evidence).
Mendeliome v0.3050 LIMS2 Zornitza Stark gene: LIMS2 was added
gene: LIMS2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIMS2 were set to 25589244; 16317048
Phenotypes for gene: LIMS2 were set to Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827
Review for gene: LIMS2 was set to RED
Added comment: Only one family reported and Pinch2 -/- mice were viable and fertile with no apparent phenotype.
Sources: Expert list
Mendeliome v0.3049 FAN1 Elena Savva reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22772369; Phenotypes: Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.3049 RAD21 Elena Savva reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31334757, 25575569, 32193685; Phenotypes: ?Mungan syndrome, 611376, Cornelia de Lange syndrome 4, 614701, Holoprocencephaly; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Classified gene: RAD21 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.23 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.22 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 31334757
Phenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia
Review for gene: RAD21 was set to GREEN
Added comment: Three individuals reported with variants in this gene and HPE phenotype. Note paper reports variants in other cohesinopathy genes also.
Sources: Literature
Mendeliome v0.3049 PSMB1 Zornitza Stark Marked gene: PSMB1 as ready
Mendeliome v0.3049 PSMB1 Zornitza Stark Gene: psmb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3049 PSMB1 Zornitza Stark Classified gene: PSMB1 as Amber List (moderate evidence)
Mendeliome v0.3049 PSMB1 Zornitza Stark Gene: psmb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3048 PSMB1 Zornitza Stark gene: PSMB1 was added
gene: PSMB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB1 were set to 32129449
Phenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly
Review for gene: PSMB1 was set to AMBER
Added comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2688 PSMB1 Zornitza Stark Marked gene: PSMB1 as ready
Intellectual disability syndromic and non-syndromic v0.2688 PSMB1 Zornitza Stark Gene: psmb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2688 PSMB1 Zornitza Stark Classified gene: PSMB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2688 PSMB1 Zornitza Stark Gene: psmb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2687 PSMB1 Zornitza Stark gene: PSMB1 was added
gene: PSMB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB1 were set to 32129449
Phenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly
Review for gene: PSMB1 was set to AMBER
Added comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model.
Sources: Literature
Mendeliome v0.3047 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Mendeliome v0.3047 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Mendeliome v0.3047 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT
Mendeliome v0.3046 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Mendeliome v0.3045 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3044 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Andermann syndrome, Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.63 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT
Hereditary Neuropathy v0.62 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Hereditary Neuropathy v0.61 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.60 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.58 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2686 C16orf62 Zornitza Stark changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.57 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).
Sources: Literature
Mendeliome v0.3044 C16orf62 Zornitza Stark changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251).
Sources: Expert list
Mendeliome v0.3044 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed publications: 25434475, 31712251
Intellectual disability syndromic and non-syndromic v0.2686 C16orf62 Zornitza Stark Publications for gene: C16orf62 were set to 25434475; 31712251
Intellectual disability syndromic and non-syndromic v0.2685 C16orf62 Zornitza Stark Publications for gene: C16orf62 were set to 25434475
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark edited their review of gene: C16orf62: Changed publications: 25434475, 31712251
Mendeliome v0.3044 EWSR1 Seb Lunke Marked gene: EWSR1 as ready
Mendeliome v0.3044 EWSR1 Seb Lunke Gene: ewsr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3044 EWSR1 Seb Lunke Phenotypes for gene: EWSR1 were changed from to Amyotrophic lateral sclerosis
Mendeliome v0.3043 EWSR1 Seb Lunke Publications for gene: EWSR1 were set to
Mendeliome v0.3042 EWSR1 Seb Lunke Mode of inheritance for gene: EWSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3041 EWSR1 Seb Lunke Classified gene: EWSR1 as Amber List (moderate evidence)
Mendeliome v0.3041 EWSR1 Seb Lunke Gene: ewsr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3040 EWSR1 Seb Lunke reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29731676, 22454397; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.39 FGF10 Tiong Tan Publications for gene: FGF10 were set to
Craniosynostosis v0.38 FGF10 Tiong Tan Marked gene: FGF10 as ready
Craniosynostosis v0.38 FGF10 Tiong Tan Gene: fgf10 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.38 FGF10 Tiong Tan Classified gene: FGF10 as Amber List (moderate evidence)
Craniosynostosis v0.38 FGF10 Tiong Tan Added comment: Comment on list classification: Two unrelated individuals in large craniosynostosis cohort with pathogenic variants in FGF10.
Craniosynostosis v0.38 FGF10 Tiong Tan Gene: fgf10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3040 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Mendeliome v0.3040 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Red List (Low Evidence).
Mendeliome v0.3040 TRPM7 Zornitza Stark Phenotypes for gene: TRPM7 were changed from to {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500
Mendeliome v0.3039 TRPM7 Zornitza Stark Classified gene: TRPM7 as Red List (low evidence)
Mendeliome v0.3039 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Red List (Low Evidence).
Mendeliome v0.3038 TRPM7 Zornitza Stark reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500; Mode of inheritance: None
Mendeliome v0.3038 C16orf62 Zornitza Stark Tag new gene name tag was added to gene: C16orf62.
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Tag new gene name tag was added to gene: C16orf62.
Genetic Epilepsy v0.719 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Genetic Epilepsy v0.719 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.719 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Genetic Epilepsy v0.718 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Genetic Epilepsy v0.717 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to Other
Genetic Epilepsy v0.716 SMC1A Zornitza Stark reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31334757, 28166369; Phenotypes: Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: Other
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.21 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.20 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: SMC1A was set to Other
Publications for gene: SMC1A were set to 31334757; 28166369
Phenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Review for gene: SMC1A was set to GREEN
Added comment: Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.19 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from Holoprosencephaly to Holoprosencephaly 13, X-linked, MIM# 301043
Holoprosencephaly and septo-optic dysplasia v0.18 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.18 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.17 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: STAG2 was set to Other
Publications for gene: STAG2 were set to 31334757
Phenotypes for gene: STAG2 were set to Holoprosencephaly
Review for gene: STAG2 was set to GREEN
Added comment: Six females reported with LoF variants in this gene and HPE spectrum disorders.
Sources: Literature
Mendeliome v0.3038 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Mendeliome v0.3038 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3038 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Mendeliome v0.3038 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3037 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Marked gene: C16orf62 as ready
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Classified gene: C16orf62 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2684 C16orf62 Zornitza Stark Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2683 C16orf62 Zornitza Stark gene: C16orf62 was added
gene: C16orf62 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475
Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome
Review for gene: C16orf62 was set to AMBER
Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475).
Sources: Expert list
Mendeliome v0.3036 RHOBTB2 Zornitza Stark Marked gene: RHOBTB2 as ready
Mendeliome v0.3036 RHOBTB2 Zornitza Stark Gene: rhobtb2 has been classified as Green List (High Evidence).
Mendeliome v0.3036 RHOBTB2 Zornitza Stark Phenotypes for gene: RHOBTB2 were changed from to Epileptic encephalopathy, early infantile, 64, MIM#618004
Mendeliome v0.3035 RHOBTB2 Zornitza Stark Publications for gene: RHOBTB2 were set to
Mendeliome v0.3034 RHOBTB2 Zornitza Stark Mode of pathogenicity for gene: RHOBTB2 was changed from to Other
Mendeliome v0.3033 RHOBTB2 Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3032 RHOBTB2 Elena Savva reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:29276004, 29768694; Phenotypes: Epileptic encephalopathy, early infantile, 64, 618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2682 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Intellectual disability syndromic and non-syndromic v0.2682 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2682 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506
Intellectual disability syndromic and non-syndromic v0.2681 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Intellectual disability syndromic and non-syndromic v0.2680 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2679 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32476286, 28211982, 27264673, 27681385, 27868344; Phenotypes: Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3032 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Mendeliome v0.3032 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence).
Mendeliome v0.3032 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506
Mendeliome v0.3031 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Mendeliome v0.3030 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3029 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32476286, 28211982, 27264673, 27681385, 27868344; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.17 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Rasopathy v0.17 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence).
Rasopathy v0.17 PPP1CB Chirag Patel Classified gene: PPP1CB as Green List (high evidence)
Rasopathy v0.17 PPP1CB Chirag Patel Gene: ppp1cb has been classified as Green List (High Evidence).
Rasopathy v0.16 PPP1CB Chirag Patel gene: PPP1CB was added
gene: PPP1CB was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1CB were set to PMID: 32476286; 28211982; 27264673; 27681385; 27868344
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506
Review for gene: PPP1CB was set to GREEN
Added comment: > 20 patients reported from different families and different ethnicities with Noonan syndrome-like features and hair abnormalities. All patients so far with missense variants.
Sources: Literature
Mendeliome v0.3029 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Mendeliome v0.3029 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Mendeliome v0.3029 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Mendeliome v0.3029 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Mendeliome v0.3028 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to GREEN
Added comment: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Literature
Arthrogryposis v0.61 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Arthrogryposis v0.61 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Arthrogryposis v0.61 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Arthrogryposis v0.61 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Arthrogryposis v0.60 NUP88 Zornitza Stark changed review comment from: Two unrelated families and a zebrafish model reported.
Sources: Literature; to: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Literature
Arthrogryposis v0.60 NUP88 Zornitza Stark edited their review of gene: NUP88: Changed rating: GREEN; Changed phenotypes: Fetal akinesia deformation sequence 4, MIM# 618393
Arthrogryposis v0.60 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to AMBER
Added comment: Two unrelated families and a zebrafish model reported.
Sources: Literature
Microcephaly v0.129 SMO Zornitza Stark Marked gene: SMO as ready
Microcephaly v0.129 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Microcephaly v0.129 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Microcephaly v0.129 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Microcephaly v0.128 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMO were set to 32413283
Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis
Review for gene: SMO was set to GREEN
Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).
Sources: Literature
Callosome v0.147 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Hirschsprung disease v0.3 SMO Zornitza Stark Marked gene: SMO as ready
Hirschsprung disease v0.3 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Hirschsprung disease v0.3 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Hirschsprung disease v0.3 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Hirschsprung disease v0.2 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Hirschsprung disease. Sources: Literature
Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMO were set to 32413283
Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis
Review for gene: SMO was set to GREEN
Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).
Sources: Literature
Congenital Heart Defect v0.48 SMO Zornitza Stark Marked gene: SMO as ready
Congenital Heart Defect v0.48 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Congenital Heart Defect v0.48 SMO Zornitza Stark Classified gene: SMO as Green List (high evidence)
Congenital Heart Defect v0.48 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Congenital Heart Defect v0.47 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMO were set to 32413283
Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis
Review for gene: SMO was set to GREEN
Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).
Sources: Literature
Congenital Heart Defect v0.46 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Callosome v0.147 SMO Zornitza Stark Marked gene: SMO as ready
Callosome v0.147 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Callosome v0.147 SMO Zornitza Stark Phenotypes for gene: SMO were changed from to Curry-Jones syndrome, somatic mosaic 601707
Callosome v0.146 SMO Zornitza Stark Publications for gene: SMO were set to
Callosome v0.145 SMO Zornitza Stark Mode of inheritance for gene: SMO was changed from Unknown to Other
Callosome v0.144 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: Other
Anophthalmia_Microphthalmia_Coloboma v0.56 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Polydactyly v0.36 SMO Zornitza Stark Marked gene: SMO as ready
Polydactyly v0.36 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Polydactyly v0.36 SMO Zornitza Stark Phenotypes for gene: SMO were changed from to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707
Polydactyly v0.35 SMO Zornitza Stark Publications for gene: SMO were set to
Polydactyly v0.34 SMO Zornitza Stark Mode of inheritance for gene: SMO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polydactyly v0.33 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283, 27236920; Phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3027 SMO Zornitza Stark Marked gene: SMO as ready
Mendeliome v0.3027 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Mendeliome v0.3027 SMO Zornitza Stark Phenotypes for gene: SMO were changed from to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707
Mendeliome v0.3026 SMO Zornitza Stark Publications for gene: SMO were set to
Mendeliome v0.3025 SMO Zornitza Stark Mode of inheritance for gene: SMO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3024 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283, 27236920; Phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3024 RBL2 Zornitza Stark Marked gene: RBL2 as ready
Mendeliome v0.3024 RBL2 Zornitza Stark Gene: rbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.3024 RBL2 Zornitza Stark gene: RBL2 was added
gene: RBL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBL2 were set to 32105419; 9806916
Phenotypes for gene: RBL2 were set to Intellectual disability
Review for gene: RBL2 was set to RED
Added comment: Single family reported with pair of affected siblings. Supportive mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2679 RBL2 Zornitza Stark Marked gene: RBL2 as ready
Intellectual disability syndromic and non-syndromic v0.2679 RBL2 Zornitza Stark Gene: rbl2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2679 RBL2 Zornitza Stark gene: RBL2 was added
gene: RBL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBL2 were set to 32105419; 9806916
Phenotypes for gene: RBL2 were set to Intellectual disability
Review for gene: RBL2 was set to RED
Added comment: Single family reported with pair of affected siblings. Supportive mouse model.
Sources: Literature
Microcephaly v0.127 GRM7 Zornitza Stark Marked gene: GRM7 as ready
Microcephaly v0.127 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Microcephaly v0.127 GRM7 Zornitza Stark Classified gene: GRM7 as Green List (high evidence)
Microcephaly v0.127 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Microcephaly v0.126 GRM7 Zornitza Stark gene: GRM7 was added
gene: GRM7 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay
Review for gene: GRM7 was set to GREEN
Added comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Marked gene: GRM7 as ready
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Classified gene: GRM7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2678 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2677 GRM7 Zornitza Stark gene: GRM7 was added
gene: GRM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay
Review for gene: GRM7 was set to GREEN
Added comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model.
Sources: Literature
Genetic Epilepsy v0.716 GRM7 Zornitza Stark Marked gene: GRM7 as ready
Genetic Epilepsy v0.716 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Mendeliome v0.3023 GRM7 Zornitza Stark Marked gene: GRM7 as ready
Mendeliome v0.3023 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Mendeliome v0.3023 GRM7 Zornitza Stark Classified gene: GRM7 as Green List (high evidence)
Mendeliome v0.3023 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Mendeliome v0.3022 GRM7 Zornitza Stark gene: GRM7 was added
gene: GRM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay
Review for gene: GRM7 was set to GREEN
Added comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Supportive mouse model.
Sources: Literature
Genetic Epilepsy v0.716 GRM7 Zornitza Stark Classified gene: GRM7 as Green List (high evidence)
Genetic Epilepsy v0.716 GRM7 Zornitza Stark Gene: grm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.715 GRM7 Zornitza Stark gene: GRM7 was added
gene: GRM7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Epilepsy, microcephaly, developmental delay
Review for gene: GRM7 was set to GREEN
Added comment: Eleven individuals from six families reported, three different homozygous variants (two missense, one LoF). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal.
Sources: Literature
Glycogen Storage Diseases v0.8 PYGM Zornitza Stark Marked gene: PYGM as ready
Glycogen Storage Diseases v0.8 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.8 PYGM Zornitza Stark Publications for gene: PYGM were set to 32386344
Mendeliome v0.3021 PYGM Zornitza Stark Marked gene: PYGM as ready
Mendeliome v0.3021 PYGM Zornitza Stark Gene: pygm has been classified as Green List (High Evidence).
Mendeliome v0.3021 PYGM Zornitza Stark Phenotypes for gene: PYGM were changed from to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant
Mendeliome v0.3020 PYGM Zornitza Stark Publications for gene: PYGM were set to
Mendeliome v0.3019 PYGM Zornitza Stark Mode of inheritance for gene: PYGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.7 PYGM Zornitza Stark Phenotypes for gene: PYGM were changed from to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant
Mendeliome v0.3018 PYGM Zornitza Stark reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.6 PYGM Zornitza Stark Publications for gene: PYGM were set to 32386344
Glycogen Storage Diseases v0.6 PYGM Zornitza Stark Publications for gene: PYGM were set to
Glycogen Storage Diseases v0.5 PYGM Zornitza Stark Mode of inheritance for gene: PYGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.4 PYGM Zornitza Stark reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3018 PERP Zornitza Stark Marked gene: PERP as ready
Mendeliome v0.3018 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3018 PERP Zornitza Stark Classified gene: PERP as Amber List (moderate evidence)
Mendeliome v0.3018 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3017 PERP Zornitza Stark gene: PERP was added
gene: PERP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERP were set to 31898316
Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet
Review for gene: PERP was set to AMBER
Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Marked gene: PERP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Added comment: Comment when marking as ready: One family and a mouse model, upgrade to Amber.
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Classified gene: PERP as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.7 PERP Zornitza Stark Gene: perp has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.52 GBA Zornitza Stark Marked gene: GBA as ready
Early-onset Dementia v0.52 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.52 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to {Lewy body dementia, susceptibility to} (MIM# 127750)
Early-onset Dementia v0.51 GBA Zornitza Stark Publications for gene: GBA were set to
Early-onset Dementia v0.50 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to Other
Early-onset Dementia v0.49 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Early-onset Dementia v0.49 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3016 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Mendeliome v0.3016 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Mendeliome v0.3016 ADCY6 Zornitza Stark Classified gene: ADCY6 as Green List (high evidence)
Mendeliome v0.3016 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Mendeliome v0.3015 ADCY6 Zornitza Stark gene: ADCY6 was added
gene: ADCY6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM # 616287
Review for gene: ADCY6 was set to GREEN
Added comment: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Literature
Arthrogryposis v0.59 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Arthrogryposis v0.59 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Early-onset Dementia v0.48 GBA Ain Roesley reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23588557, 32439597, 31010158; Phenotypes: {Lewy body dementia, susceptibility to} (MIM# 127750); Mode of inheritance: Other
Arthrogryposis v0.59 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from ?Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287
Mendeliome v0.3014 DSCR3 Zornitza Stark Marked gene: DSCR3 as ready
Mendeliome v0.3014 DSCR3 Zornitza Stark Gene: dscr3 has been classified as Red List (Low Evidence).
Mendeliome v0.3014 DSCR3 Zornitza Stark gene: DSCR3 was added
gene: DSCR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DSCR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSCR3 were set to 31845315
Phenotypes for gene: DSCR3 were set to Intellectual disability, no OMIM # yet
Review for gene: DSCR3 was set to RED
Added comment: 1 family/2 cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Both shared the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The nature of the variant which is predicted to result in loss‐of‐function, expression studies revealing significant reduction in the mutant transcript, and the co‐segregation of the homozygous variant with the phenotype in two affected individuals.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2676 DSCR3 Zornitza Stark Marked gene: DSCR3 as ready
Intellectual disability syndromic and non-syndromic v0.2676 DSCR3 Zornitza Stark Gene: dscr3 has been classified as Red List (Low Evidence).
Mendeliome v0.3013 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Mendeliome v0.3013 LEF1 Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence).
Mendeliome v0.3013 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to 32022899
Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet
Review for gene: LEF1 was set to RED
Added comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Oligodontia v0.5 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Oligodontia v0.5 LEF1 Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.24 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Ectodermal Dysplasia v0.24 LEF1 Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.6 PERP Chirag Patel gene: PERP was added
gene: PERP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PERP were set to PMID: 31898316
Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet
Review for gene: PERP was set to RED
Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP.

A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible.
Sources: Literature
Mendeliome v0.3012 OTUD7A Zornitza Stark Marked gene: OTUD7A as ready
Mendeliome v0.3012 OTUD7A Zornitza Stark Gene: otud7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2676 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Epileptic encephalopathy, intellectual disability, no OMIM# yet
Intellectual disability syndromic and non-syndromic v0.2675 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314
Intellectual disability syndromic and non-syndromic v0.2674 OTUD7A Zornitza Stark reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: None; Publications: 29395075, 29395074; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3012 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Epileptic encephalopathy, intellectual disability, no OMIM# yet
Mendeliome v0.3011 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to 31997314
Mendeliome v0.3010 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed publications: 31997314, 29395075, 29395074
Mendeliome v0.3010 OTUD7A Zornitza Stark gene: OTUD7A was added
gene: OTUD7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD7A were set to 31997314
Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet
Review for gene: OTUD7A was set to RED
Added comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2674 OTUD7A Zornitza Stark Marked gene: OTUD7A as ready
Intellectual disability syndromic and non-syndromic v0.2674 OTUD7A Zornitza Stark Gene: otud7a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.714 OTUD7A Zornitza Stark Marked gene: OTUD7A as ready
Genetic Epilepsy v0.714 OTUD7A Zornitza Stark Gene: otud7a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2674 GATAD2B Zornitza Stark Phenotypes for gene: GATAD2B were changed from to Mental retardation, autosomal dominant 18, OMIM # 615074
Intellectual disability syndromic and non-syndromic v0.2673 GATAD2B Zornitza Stark Publications for gene: GATAD2B were set to
Intellectual disability syndromic and non-syndromic v0.2672 GATAD2B Zornitza Stark Mode of inheritance for gene: GATAD2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3009 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Mendeliome v0.3009 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence).
Mendeliome v0.3009 GATAD2B Zornitza Stark Phenotypes for gene: GATAD2B were changed from to Mental retardation, autosomal dominant 18, OMIM # 615074
Mendeliome v0.3008 GATAD2B Zornitza Stark Publications for gene: GATAD2B were set to
Mendeliome v0.3007 GATAD2B Zornitza Stark Mode of inheritance for gene: GATAD2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3006 GATAD2B Zornitza Stark reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949314; Phenotypes: Mental retardation, autosomal dominant 18, OMIM # 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.33 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Macrocephaly_Megalencephaly v0.33 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
Intellectual disability syndromic and non-syndromic v0.2671 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
Mendeliome v0.3006 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
Intellectual disability syndromic and non-syndromic v0.2670 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2670 KMT2D Zornitza Stark Deleted their review
Mendeliome v0.3005 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Mendeliome v0.3005 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Mendeliome v0.3005 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Mendeliome v0.3004 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Mendeliome v0.3003 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3002 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949313; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2670 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Intellectual disability syndromic and non-syndromic v0.2669 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Craniosynostosis v0.37 TLK2 Bryony Thompson reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57 MIM#618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2668 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2667 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.32 COG4 Zornitza Stark Marked gene: COG4 as ready
Skeletal dysplasia v0.32 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.32 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 to Saul-Wilson syndrome, OMIM #618150
Skeletal dysplasia v0.31 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.31 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2667 COG4 Zornitza Stark Publications for gene: COG4 were set to
Intellectual disability syndromic and non-syndromic v0.2666 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2665 COG4 Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2665 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949312, 30290151, 19494034, 21185756; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3002 COG4 Zornitza Stark Marked gene: COG4 as ready
Mendeliome v0.3002 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Mendeliome v0.3002 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Mendeliome v0.3001 COG4 Zornitza Stark Publications for gene: COG4 were set to
Mendeliome v0.3000 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2999 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949312, 30290151, 19494034, 21185756; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Marked gene: COG4 as ready
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj 613489
Congenital Disorders of Glycosylation v0.52 COG4 Zornitza Stark Publications for gene: COG4 were set to
Congenital Disorders of Glycosylation v0.51 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.50 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21185756, 19494034; Phenotypes: Congenital disorder of glycosylation, type IIj 613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.143 COG4 Zornitza Stark Marked gene: COG4 as ready
Cataract v0.143 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.143 COG4 Zornitza Stark Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Cataract v0.142 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from PMID: 31949312; 30290151 to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.29 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Disorders of Sex Differentiation. Sources: Expert list
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F2 were set to 29478779; 31687637
Phenotypes for gene: NR2F2 were set to 46,XX disorder of sex development (DSD) and congenital heart defects
Review for gene: NR2F2 was set to GREEN
Added comment: Four unrelated individuals reported. Note two had the same 7bp deletion, c.97_103delCCGCCCG, NM_021005.3, and the third individual had an adjacent deletion, c.103_109delGGCGCCC, NM_021005.3. All three were of very different ancestries, making founder effect unlikely. Fourth individual had a larger deletion encompassing this gene. Gene is also linked with isolated CHD (Congenital heart defects, multiple types, 4, MIM# 615779)
Sources: Expert list
Arthrogryposis v0.58 ADCY6 Chirag Patel Classified gene: ADCY6 as Green List (high evidence)
Arthrogryposis v0.58 ADCY6 Chirag Patel Gene: adcy6 has been classified as Green List (High Evidence).
Arthrogryposis v0.57 ADCY6 Chirag Patel Classified gene: ADCY6 as Green List (high evidence)
Arthrogryposis v0.57 ADCY6 Chirag Patel Gene: adcy6 has been classified as Green List (High Evidence).
Arthrogryposis v0.56 ADCY6 Chirag Patel gene: ADCY6 was added
gene: ADCY6 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058
Phenotypes for gene: ADCY6 were set to ?Lethal congenital contracture syndrome 8, OMIM # 616287
Review for gene: ADCY6 was set to GREEN
Added comment: Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth.

Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.

Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2665 DSCR3 Chirag Patel gene: DSCR3 was added
gene: DSCR3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DSCR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCR3 were set to PMID: 31845315
Phenotypes for gene: DSCR3 were set to Intellectual disability, no OMIM # yet
Review for gene: DSCR3 was set to RED
Added comment: 1 family/2 cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Both shared the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The nature of the variant which is predicted to result in loss‐of‐function, expression studies revealing significant reduction in the mutant transcript, and the co‐segregation of the homozygous variant with the phenotype in two affected individuals.
Sources: Literature
Oligodontia v0.5 LEF1 Chirag Patel gene: LEF1 was added
gene: LEF1 was added to Oligodontia. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to PMID: 32022899
Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet
Review for gene: LEF1 was set to RED
Added comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Ectodermal Dysplasia v0.24 LEF1 Chirag Patel gene: LEF1 was added
gene: LEF1 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to PMID: 32022899
Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet
Added comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2664 OTUD7A Chirag Patel gene: OTUD7A was added
gene: OTUD7A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD7A were set to PMID: 31997314
Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet
Review for gene: OTUD7A was set to RED
Added comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature
Genetic Epilepsy v0.714 OTUD7A Chirag Patel gene: OTUD7A was added
gene: OTUD7A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD7A were set to PMID: 31997314
Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, no OMIM# yet
Review for gene: OTUD7A was set to RED
Added comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2663 GATAD2B Chirag Patel reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949314; Phenotypes: Mental retardation, autosomal dominant 18, OMIM # 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.33 GATAD2B Chirag Patel Classified gene: GATAD2B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.33 GATAD2B Chirag Patel Gene: gatad2b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.32 GATAD2B Chirag Patel gene: GATAD2B was added
gene: GATAD2B was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATAD2B were set to PMID: 31949314
Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074
Review for gene: GATAD2B was set to GREEN
Added comment: 50 patients reported in series in 2020:
- loss-of-function and missense variants
- clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly.
Sources: Literature
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Marked gene: SLC25A24 as ready
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Craniosynostosis v0.37 SLC25A24 Bryony Thompson Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome MIM#612289
Craniosynostosis v0.36 SLC25A24 Bryony Thompson Publications for gene: SLC25A24 were set to
Craniosynostosis v0.35 SLC25A24 Bryony Thompson Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.34 SLC25A24 Bryony Thompson reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100093; Phenotypes: Fontaine progeroid syndrome MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2663 KMT2D Chirag Patel changed review comment from: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.; to: KMT2D missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
- 7 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Intellectual disability syndromic and non-syndromic v0.2663 KMT2D Chirag Patel reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949313; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.30 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Skeletal dysplasia v0.30 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.29 COG4 Chirag Patel changed review comment from: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature; to: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal dysplasia changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Skeletal dysplasia v0.29 COG4 Chirag Patel gene: COG4 was added
gene: COG4 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were set to PMID: 31949312; 30290151
Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Review for gene: COG4 was set to GREEN
Added comment: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2663 COG4 Chirag Patel reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31949312, 30290151; Phenotypes: Saul-Wilson syndrome, OMIM #618150, Congenital disorder of glycosylation, type IIj, OMIM #613489; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.141 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.141 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.139 COG4 Chirag Patel gene: COG4 was added
gene: COG4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Phenotypes for gene: COG4 were set to PMID: 31949312; 30290151
Review for gene: COG4 was set to GREEN
Added comment: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 TECRL Zornitza Stark Marked gene: TECRL as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.26 TECRL Zornitza Stark Phenotypes for gene: TECRL were changed from CPVT to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.25 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 CALM1 Zornitza Stark Marked gene: CALM1 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.24 CALM1 Zornitza Stark Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916
Catecholaminergic Polymorphic Ventricular Tachycardia v0.23 CALM1 Zornitza Stark Publications for gene: CALM1 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.22 CALM1 Zornitza Stark Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 CALM2 Zornitza Stark Marked gene: CALM2 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.21 CALM2 Zornitza Stark Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 616249; sudden unexplained death; idopathic VF
Catecholaminergic Polymorphic Ventricular Tachycardia v0.20 CALM2 Zornitza Stark Publications for gene: CALM2 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.19 CALM3 Zornitza Stark Publications for gene: CALM3 were set to 27516456
Catecholaminergic Polymorphic Ventricular Tachycardia v0.18 CALM3 Zornitza Stark Classified gene: CALM3 as Amber List (moderate evidence)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.18 CALM3 Zornitza Stark Gene: calm3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2663 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Intellectual disability syndromic and non-syndromic v0.2663 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2663 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Intellectual disability syndromic and non-syndromic v0.2662 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Intellectual disability syndromic and non-syndromic v0.2661 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2660 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.118 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Regression v0.118 ARL13B Zornitza Stark Gene: arl13b has been classified as Red List (Low Evidence).
Regression v0.118 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Regression v0.117 ARL13B Zornitza Stark Classified gene: ARL13B as Red List (low evidence)
Regression v0.117 ARL13B Zornitza Stark Gene: arl13b has been classified as Red List (Low Evidence).
Regression v0.116 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Renal Ciliopathies and Nephronophthisis v0.105 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Renal Ciliopathies and Nephronophthisis v0.104 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.103 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2999 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Mendeliome v0.2999 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Mendeliome v0.2999 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Mendeliome v0.2998 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Mendeliome v0.2997 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2996 ARL13B Zornitza Stark Deleted their comment
Mendeliome v0.2996 ARL13B Zornitza Stark edited their review of gene: ARL13B: Added comment: Eight families reported in the literature. Many are homozygous missense variants in consanguineous families with no further supporting evidence, but sufficient number have functional evidence at protein level. Gene has appropriate tissue expression. Zebrafish model: curved tails and cystic kidneys. Hennin mouse model discovered in ENU mutagenesis screen: has polydactyly, ciliary defect, and much more severe neurological phenotype (neural tube defect).; Changed publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627
Ciliopathies v0.190 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Ciliopathies v0.190 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Ciliopathies v0.190 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Ciliopathies v0.189 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Ciliopathies v0.188 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.187 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Marked gene: CENPF as ready
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.83 CENPF Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.82 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Joubert syndrome and other neurological ciliopathies v0.81 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Joubert syndrome and other neurological ciliopathies v0.80 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.79 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.34 RAB23 Tiong Tan Marked gene: RAB23 as ready
Craniosynostosis v0.34 RAB23 Tiong Tan Gene: rab23 has been classified as Green List (High Evidence).
Craniosynostosis v0.34 RAB23 Tiong Tan Classified gene: RAB23 as Green List (high evidence)
Craniosynostosis v0.34 RAB23 Tiong Tan Gene: rab23 has been classified as Green List (High Evidence).
Craniosynostosis v0.33 RAB23 Tiong Tan gene: RAB23 was added
gene: RAB23 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB23 were set to 17503333
Phenotypes for gene: RAB23 were set to 201000 CARPENTER SYNDROME
Penetrance for gene: RAB23 were set to Complete
Review for gene: RAB23 was set to GREEN
Added comment: Craniosynostosis is an established feature of Carpenter syndrome
Sources: Literature
Craniosynostosis v0.32 HNRNPK Tiong Tan Marked gene: HNRNPK as ready
Craniosynostosis v0.32 HNRNPK Tiong Tan Gene: hnrnpk has been classified as Green List (High Evidence).
Craniosynostosis v0.32 HNRNPK Tiong Tan Classified gene: HNRNPK as Green List (high evidence)
Craniosynostosis v0.32 HNRNPK Tiong Tan Added comment: Comment on list classification: Amazing reviewer
Craniosynostosis v0.32 HNRNPK Tiong Tan Gene: hnrnpk has been classified as Green List (High Evidence).
Craniosynostosis v0.31 HNRNPK Tiong Tan gene: HNRNPK was added
gene: HNRNPK was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 26173930; 26954065; 29904177
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: Multiple unrelated individuals with Au-Kline (approx 1/3 have craniosynostosis - sagittal, metric, lambdoid)
Sources: Literature
Craniosynostosis v0.30 ESCO2 Tiong Tan Marked gene: ESCO2 as ready
Craniosynostosis v0.30 ESCO2 Tiong Tan Gene: esco2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.30 ESCO2 Tiong Tan Classified gene: ESCO2 as Amber List (moderate evidence)
Craniosynostosis v0.30 ESCO2 Tiong Tan Gene: esco2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.29 ESCO2 Tiong Tan gene: ESCO2 was added
gene: ESCO2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 31192177
Phenotypes for gene: ESCO2 were set to 268300 ROBERTS SYNDROME
Penetrance for gene: ESCO2 were set to Complete
Review for gene: ESCO2 was set to AMBER
Added comment: Two unrelated individuals with Roberts syndrome and craniosynostosis
Sources: Literature
Craniosynostosis v0.28 EFNA4 Tiong Tan Marked gene: EFNA4 as ready
Craniosynostosis v0.28 EFNA4 Tiong Tan Gene: efna4 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.28 EFNA4 Tiong Tan Classified gene: EFNA4 as Amber List (moderate evidence)
Craniosynostosis v0.28 EFNA4 Tiong Tan Gene: efna4 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.27 EFNA4 Tiong Tan reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29168297, 29215649; Phenotypes: Coronal and metopic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.27 DPH1 Tiong Tan Marked gene: DPH1 as ready
Craniosynostosis v0.27 DPH1 Tiong Tan Gene: dph1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.27 DPH1 Tiong Tan Classified gene: DPH1 as Amber List (moderate evidence)
Craniosynostosis v0.27 DPH1 Tiong Tan Added comment: Comment on list classification: I agree!
Craniosynostosis v0.27 DPH1 Tiong Tan Gene: dph1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.26 DPH1 Tiong Tan gene: DPH1 was added
gene: DPH1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH1 were set to 25558065; 26220823
Phenotypes for gene: DPH1 were set to 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
Penetrance for gene: DPH1 were set to Complete
Review for gene: DPH1 was set to AMBER
Added comment: Multiple sibs from two unrelated families with DEDSSH syndrome, of which craniosynostosis was a component in some affected individuals.
Sources: Literature
Craniosynostosis v0.25 CYP26B1 Tiong Tan Marked gene: CYP26B1 as ready
Craniosynostosis v0.25 CYP26B1 Tiong Tan Gene: cyp26b1 has been classified as Green List (High Evidence).
Craniosynostosis v0.25 CYP26B1 Tiong Tan Classified gene: CYP26B1 as Green List (high evidence)
Craniosynostosis v0.25 CYP26B1 Tiong Tan Gene: cyp26b1 has been classified as Green List (High Evidence).
Craniosynostosis v0.24 CYP26B1 Tiong Tan gene: CYP26B1 was added
gene: CYP26B1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to 27410456; 22019272
Phenotypes for gene: CYP26B1 were set to 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
Penetrance for gene: CYP26B1 were set to Complete
Review for gene: CYP26B1 was set to GREEN
Added comment: Three unrelated families in two publications, the first of which also demonstrated robust functional work in murine embryos, zebrafish and in vitro assays suggesting aberrant osteoblast-osteocyte transition.
Sources: Literature
Craniosynostosis v0.23 COLEC11 Tiong Tan Marked gene: COLEC11 as ready
Craniosynostosis v0.23 COLEC11 Tiong Tan Gene: colec11 has been classified as Green List (High Evidence).
Craniosynostosis v0.23 COLEC11 Tiong Tan Classified gene: COLEC11 as Green List (high evidence)
Craniosynostosis v0.23 COLEC11 Tiong Tan Gene: colec11 has been classified as Green List (High Evidence).
Craniosynostosis v0.22 COLEC11 Tiong Tan gene: COLEC11 was added
gene: COLEC11 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 21258343
Phenotypes for gene: COLEC11 were set to 265050 3MC SYNDROME 2
Penetrance for gene: COLEC11 were set to Complete
Review for gene: COLEC11 was set to GREEN
Added comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Craniosynostosis v0.21 CHST3 Tiong Tan edited their review of gene: CHST3: Changed rating: RED
Craniosynostosis v0.21 CHST3 Tiong Tan Classified gene: CHST3 as Red List (low evidence)
Craniosynostosis v0.21 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.20 CHST3 Tiong Tan Marked gene: CHST3 as ready
Craniosynostosis v0.20 CHST3 Tiong Tan Gene: chst3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.20 CHST3 Tiong Tan gene: CHST3 was added
gene: CHST3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 24300290
Phenotypes for gene: CHST3 were set to 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Penetrance for gene: CHST3 were set to Complete
Review for gene: CHST3 was set to AMBER
Added comment: Single case report of craniosynostosis in single individual with SEDCJD
Sources: Literature
Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 TECRL Ivan Macciocca gene: TECRL was added
gene: TECRL was added to Catecholaminergic Polymorphic Ventricular Tachycardia. Sources: Literature
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 17666061; 27861123; 30790670
Phenotypes for gene: TECRL were set to CPVT
Penetrance for gene: TECRL were set to Complete
Review for gene: TECRL was set to GREEN
Added comment: As at 03/06/2020, not assessed by ClinGen for association with CPVT; and is associated with CPVT3 in OMIM. Amber on GEL PanelApp
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
This gene meets criteria for green.
Sources: Literature
Craniosynostosis v0.19 B3GAT3 Tiong Tan Classified gene: B3GAT3 as Green List (high evidence)
Craniosynostosis v0.19 B3GAT3 Tiong Tan Gene: b3gat3 has been classified as Green List (High Evidence).
Craniosynostosis v0.18 B3GAT3 Tiong Tan Marked gene: B3GAT3 as ready
Craniosynostosis v0.18 B3GAT3 Tiong Tan Gene: b3gat3 has been classified as Red List (Low Evidence).
Craniosynostosis v0.18 B3GAT3 Tiong Tan gene: B3GAT3 was added
gene: B3GAT3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 31438591
Phenotypes for gene: B3GAT3 were set to 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Penetrance for gene: B3GAT3 were set to Complete
Review for gene: B3GAT3 was set to GREEN
Added comment: Craniosynostosis is a feature of B3GAT3-related joint dislocations. Reported in multiple unrelated individuals and summarised in PMID 31438591 (2019)
Sources: Literature
Craniosynostosis v0.17 ALPL Tiong Tan Classified gene: ALPL as Green List (high evidence)
Craniosynostosis v0.17 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Craniosynostosis v0.17 ALPL Tiong Tan Gene: alpl has been classified as Green List (High Evidence).
Craniosynostosis v0.17 ALPL Tiong Tan Classified gene: ALPL as Red List (low evidence)
Craniosynostosis v0.17 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Craniosynostosis v0.17 ALPL Tiong Tan Gene: alpl has been classified as Red List (Low Evidence).
Craniosynostosis v0.16 ALPL Tiong Tan Classified gene: ALPL as Green List (high evidence)
Craniosynostosis v0.16 ALPL Tiong Tan Added comment: Comment on list classification: Known manifestation of hypophosphatasia; can precede other features
Craniosynostosis v0.16 ALPL Tiong Tan Gene: alpl has been classified as Green List (High Evidence).
Craniosynostosis v0.15 ALPL Tiong Tan Marked gene: ALPL as ready
Craniosynostosis v0.15 ALPL Tiong Tan Gene: alpl has been classified as Red List (Low Evidence).
Craniosynostosis v0.15 ALPL Tiong Tan gene: ALPL was added
gene: ALPL was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 29405940; 26590809; 30979546; 31754721
Phenotypes for gene: ALPL were set to 241500 HYPOPHOSPHATASIA, INFANTILE
Penetrance for gene: ALPL were set to unknown
Review for gene: ALPL was set to GREEN
Added comment: Sources: Literature
Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 TRDN Ivan Macciocca reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30649896, 25922419, 22422768; Phenotypes: triadin knockout syndrome, LQTS, CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Arthrogryposis v0.55 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome (MIM#314580)
Arthrogryposis v0.54 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Arthrogryposis v0.53 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.17 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Catecholaminergic Polymorphic Ventricular Tachycardia v0.16 CASQ2 Zornitza Stark Publications for gene: CASQ2 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.15 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.14 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen Tawil syndrome, LQTS
Catecholaminergic Polymorphic Ventricular Tachycardia v0.13 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Catecholaminergic Polymorphic Ventricular Tachycardia v0.12 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.11 KCNJ2 Zornitza Stark Classified gene: KCNJ2 as Amber List (moderate evidence)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.11 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.27 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Cholestasis v0.27 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Cholestasis v0.27 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Cholestasis v0.26 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Cholestasis v0.25 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.24 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.52 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Arthrogryposis v0.52 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Arthrogryposis v0.52 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Arthrogryposis v0.51 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Arthrogryposis v0.50 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.14 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Craniosynostosis v0.14 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Craniosynostosis v0.14 HUWE1 Bryony Thompson Marked gene: HUWE1 as ready
Craniosynostosis v0.14 HUWE1 Bryony Thompson Gene: huwe1 has been classified as Green List (High Evidence).
Craniosynostosis v0.14 HUWE1 Bryony Thompson Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type MIM#309590
Craniosynostosis v0.13 HUWE1 Bryony Thompson Mode of inheritance for gene: HUWE1 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)
Craniosynostosis v0.12 HUWE1 Bryony Thompson reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v0.12 FGF9 Bryony Thompson Marked gene: FGF9 as ready
Craniosynostosis v0.12 FGF9 Bryony Thompson Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.12 FGF9 Bryony Thompson Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3 MIM#612961
Craniosynostosis v0.11 FGF9 Bryony Thompson Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.10 FGF9 Bryony Thompson Classified gene: FGF9 as Amber List (moderate evidence)
Craniosynostosis v0.10 FGF9 Bryony Thompson Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.9 FGF9 Bryony Thompson reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.9 CDC45 Bryony Thompson Marked gene: CDC45 as ready
Craniosynostosis v0.9 CDC45 Bryony Thompson Gene: cdc45 has been classified as Green List (High Evidence).
Craniosynostosis v0.9 CDC45 Bryony Thompson Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7 MIM#617063
Craniosynostosis v0.8 CDC45 Bryony Thompson Publications for gene: CDC45 were set to
Craniosynostosis v0.7 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.6 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.6 CDC45 Bryony Thompson Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.5 CDC45 Bryony Thompson edited their review of gene: CDC45: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v0.5 CDC45 Bryony Thompson reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374770; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: None
Craniosynostosis v0.5 ALX4 Bryony Thompson Classified gene: ALX4 as Green List (high evidence)
Craniosynostosis v0.5 ALX4 Bryony Thompson Gene: alx4 has been classified as Green List (High Evidence).
Craniosynostosis v0.4 ALX4 Bryony Thompson gene: ALX4 was added
gene: ALX4 was added to Craniosynostosis. Sources: Expert list
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALX4 were set to 19692347; 29215649; 22829454
Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597
Review for gene: ALX4 was set to GREEN
Added comment: Craniosynostosis has been reported in 2 cases with monoallelic likely LoF variants and as a feature of a syndromic condition in 2 consanguineous families with homozygous LoF variants. 2 putative gain of function missense variants were identified in 2 probands with non-syndromic craniosynostosis, but were also identified in unaffected parents.
Sources: Expert list
Arthrogryposis v0.49 VPS33B Crystle Lee reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 KCNJ2 Ivan Macciocca reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31020160, 22589293, 26322597; Phenotypes: Andersen Tawil syndrome, LQTS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CASQ2 Ivan Macciocca changed review comment from: not curated by ClinGen as at 03/05/2020
Green in PanelApp GEL

Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.; to: not curated by ClinGen as at 03/05/2020
Green in PanelApp GEL

Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected, although there is at least 1 report of a multi-generation family with affected heterozygotes (PMID: 27157848) - this variant is absent from Gnomad as at 03/06/2020). Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the original gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CASQ2 Ivan Macciocca changed review comment from: not curated by ClinGen as at 03/05/2020
Green in PanelApp GEL

Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect.; to: not curated by ClinGen as at 03/05/2020
Green in PanelApp GEL

Homozygous or compound heterozygous variants have been reported in at least 3 families. Heterozygotes are typically not affected. Functional studies on the variants identified in these families support a deleterious effect. Variants reported in the orgiginal gene discovery papers are either no present, or present at very low frequency (2 or less) in GnomAD/Exac.
Arthrogryposis v0.49 ZC4H2 Crystle Lee reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 31885220; Phenotypes: Wieacker-Wolff syndrome (MIM#314580); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CASQ2 Ivan Macciocca reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: OMID: 611938, 611938; Phenotypes: CPVT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM2 Ivan Macciocca edited their review of gene: CALM2: Changed publications: PMID: 31170290; Changed phenotypes: LQTS, sudden unexplained death, idopathic VF
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM2 Ivan Macciocca changed review comment from: Not assessed by ClinGen as at 03.05.2020.
Green in PanelApp GEL

Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least:
- 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD
- 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD
- 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively.

Calmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020); to: Not assessed by ClinGen as at 03.05.2020.
Green in PanelApp GEL

Pathogenic and likely pathogenic CALM 1, 2 and 3 variants have been asscoiated with CPVT, LQTS and Idopathic VF (incldundg sudden unexplained death) in a review paper formt he CALM registry (PMID: 31170290). For CPVT at least:
- 7 families have been reported with one of 2 CALM1 P/LP variants, both variants caused overlapping phenotype of LQTS, CPVT and/or SUD
- 8 families have been reported with one of 4 CALM2 P/LP variants, 3 of which caused overlapping phenotype of LQTS, CPVT and/or SUD
- 2 families have been reported with one of 2 CALM3 P/LP variants, both of which caused CPVT exclusively.

Calmodulin is an essential calcium-sensing, signal-transducing protein. Three calmodulin genes, CALM1, CALM2 and CALM3, have unique nucleotide sequences but encode identical 149-amino acid calmodulin proteins with 4 EF-hand calcium-binding loops. (OMIM: https://omim.org/entry/114180?search=CALM1&highlight=calm1#7, accessed 03.05.2020)
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM3 Ivan Macciocca reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: LQTS, idiopathic VF, sudden unexplained death; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM2 Ivan Macciocca commented on gene: CALM2
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 CALM1 Ivan Macciocca reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31170290; Phenotypes: CPVT, LQTS, idiopathic VF; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.113 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.103 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: 23022101, 23849777; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#08647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.448 MT-CO3 Chern Lim gene: MT-CO3 was added
gene: MT-CO3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820
Phenotypes for gene: MT-CO3 were set to Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy
Review for gene: MT-CO3 was set to GREEN
gene: MT-CO3 was marked as current diagnostic
Added comment: Reported in at least 3 unrelated families (PMIDs: 20525945, 9634511, 11063732, 12414820).
Sources: Literature
Heterotaxy v0.103 LRRC56 Elena Savva gene: LRRC56 was added
gene: LRRC56 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC56 were set to PMID: 30388400
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 618254
Review for gene: LRRC56 was set to GREEN
Added comment: PMID: 30388400 - 3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). All patients had dextrocardia, atrial situs inversus and abdominal/thoracic situs inversus
Sources: Expert list
Heterotaxy v0.103 LZTFL1 Crystle Lee gene: LZTFL1 was added
gene: LZTFL1 was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)
Review for gene: LZTFL1 was set to AMBER
Added comment: Only 1 family of the 2 currently reported presented with situs invertus

PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad

PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.

PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.

PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking
Sources: Expert Review
Bardet Biedl syndrome v0.28 LZTFL1 Crystle Lee reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986; Phenotypes: Bardet-Biedl syndrome 17 (MIM#615994); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.94 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Added comment: Comment when marking as ready: No evidence for association between germline variants and vascular malformations.
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Vascular Malformations_Germline v0.93 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Vascular Malformations_Germline v0.93 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 NRAS Zornitza Stark Marked gene: NRAS as ready
Vascular Malformations_Germline v0.93 NRAS Zornitza Stark Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MTOR Zornitza Stark Marked gene: MTOR as ready
Vascular Malformations_Germline v0.93 MTOR Zornitza Stark Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MAP3K3 Zornitza Stark Marked gene: MAP3K3 as ready
Vascular Malformations_Germline v0.93 MAP3K3 Zornitza Stark Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Vascular Malformations_Germline v0.93 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 KRAS Zornitza Stark Marked gene: KRAS as ready
Vascular Malformations_Germline v0.93 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 HRAS Zornitza Stark Marked gene: HRAS as ready
Vascular Malformations_Germline v0.93 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Vascular Malformations_Germline v0.93 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Vascular Malformations_Germline v0.92 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from to Other
Vascular Malformations_Germline v0.91 BRAF Zornitza Stark Marked gene: BRAF as ready
Vascular Malformations_Germline v0.91 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.91 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Vascular Malformations_Germline v0.91 AKT1 Zornitza Stark Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.91 KDR Zornitza Stark Marked gene: KDR as ready
Vascular Malformations_Germline v0.91 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Marked gene: ELMO2 as ready
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Publications for gene: ELMO2 were set to
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Added comment: Comment when marking as ready: Somatic variants in Rasopathy genes have been associated with vascular malformations.
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Gene: sos1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Tag somatic tag was added to gene: SOS1.
Mendeliome v0.2996 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Mendeliome v0.2996 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2996 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Mendeliome v0.2995 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Mendeliome v0.2994 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2993 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Mendeliome v0.2993 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2992 DNAL1 Zornitza Stark Tag founder tag was added to gene: DNAL1.
Mendeliome v0.2992 DNAL1 Zornitza Stark reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Tag founder tag was added to gene: DNAL1.
Heterotaxy v0.103 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Heterotaxy v0.103 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.103 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Heterotaxy v0.102 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Heterotaxy v0.101 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.100 DNAL1 Zornitza Stark Tag founder tag was added to gene: DNAL1.
Heterotaxy v0.100 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Heterotaxy v0.100 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark changed review comment from: Single family reported with homozygous missense variant, some functional data.; to: Two Bedouin families reported with same homozygous missense variant (founder), some functional data.
Heterotaxy v0.99 DNAL1 Zornitza Stark reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Ciliary Dyskinesia v0.112 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Ciliary Dyskinesia v0.111 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.110 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.110 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.109 DNAL1 Zornitza Stark reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2992 DNAH8 Zornitza Stark Marked gene: DNAH8 as ready
Mendeliome v0.2992 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2992 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from to Asthenozoospermia; primary ciliary dyskinesia
Mendeliome v0.2991 DNAH8 Zornitza Stark Publications for gene: DNAH8 were set to
Mendeliome v0.2990 DNAH8 Zornitza Stark Mode of inheritance for gene: DNAH8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2989 DNAH8 Zornitza Stark Classified gene: DNAH8 as Amber List (moderate evidence)
Mendeliome v0.2989 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2988 DNAH8 Zornitza Stark reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: None; Publications: 31178125, 24307375; Phenotypes: Asthenozoospermia, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.99 GAS8 Zornitza Stark changed review comment from: Heterotaxy is not part of the phenotype of this PCD.; to: Heterotaxy is not part of the phenotype of this PCD in the individuals reported, though note zebrafish model had LR axis abnormalities.
Heterotaxy v0.99 GAS8 Zornitza Stark edited their review of gene: GAS8: Changed publications: 19043402, 26387594
Heterotaxy v0.99 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Heterotaxy v0.99 GAS8 Zornitza Stark Gene: gas8 has been classified as Red List (Low Evidence).
Heterotaxy v0.99 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from to Ciliary dyskinesia, primary, 33, MIM# 616726
Heterotaxy v0.98 GAS8 Zornitza Stark Mode of inheritance for gene: GAS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.97 GAS8 Zornitza Stark Classified gene: GAS8 as Red List (low evidence)
Heterotaxy v0.97 GAS8 Zornitza Stark Gene: gas8 has been classified as Red List (Low Evidence).
Heterotaxy v0.96 GAS8 Zornitza Stark reviewed gene: GAS8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 33, MIM# 616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2988 TTC5 Zornitza Stark Marked gene: TTC5 as ready
Mendeliome v0.2988 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
Mendeliome v0.2988 TTC5 Zornitza Stark Classified gene: TTC5 as Green List (high evidence)
Mendeliome v0.2988 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
Mendeliome v0.2987 TTC5 Zornitza Stark gene: TTC5 was added
gene: TTC5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC5 were set to 29302074; 32439809
Phenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system
Review for gene: TTC5 was set to GREEN
Added comment: Eleven individuals from seven families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Marked gene: TTC5 as ready
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Classified gene: TTC5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2660 TTC5 Zornitza Stark Gene: ttc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2659 TTC5 Konstantinos Varvagiannis gene: TTC5 was added
gene: TTC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC5 were set to 29302074; 32439809
Phenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system
Penetrance for gene: TTC5 were set to Complete
Review for gene: TTC5 was set to GREEN
Added comment: Hu et al (2019 - PMID: 29302074) reported briefly on 3 individuals from 2 consanguineous families (from Turkey and Iran) with biallelic TTC5 variants. Features included DD (3/3), ID (severe in 2/2 with relevant age), microcephaly (3/3), brain abnormalities, etc. A nonsense and a variant affecting splice site were identified by WES/WGS.

---

In a recent report, Rasheed et al (2020 - PMID: 32439809) report on the phenotype of 8 individuals - belonging to 5 consanguineous families - all 8 harboring homozygous TTC5 mutations.

Frequent features included hypotonia (6/8), motor and speech delay, moderate to severe ID (10/10 of relevant age - inclusion of less severely affected subjects was not considered by study design), brain MRI abnormalities (8/8). Other findings included microcephaly in some (6/11), behavioral abnormalities in few (autistic behavior in 2/8, aggression in 2/8), genitourinary anomalies (2/8), seizures (1/11). Facial phenotype incl. thin V-shaped upper lip, low-set ears (in most) and/or additional features.

TTC5 encodes a 440 aa protein, functioning as a scaffold to stabilise p300-JMY interactions. Apart from this role in nucleus, it has functions in the cytoplasm (inhibiting actin nucleataion, autophagosome formation, etc).

The gene has ubiquitous expression, highest in brain.

All variants were identified following WES - as the best candidates - in affected individuals with compatible Sanger studies in all affected family members and carrier parents.

2 missense and 2 nonsense variants were identified with the 2 missense SNVs localizing within TPR domains. qRT-PCR studies for a nonsense variant localizing 19 nt before the last exon, revealed fourfold decreased expression in affected individuals compared to carriers.

Families from Egypt shared a homozygous ~6.3 Mb haplotype block spanning TTC5, suggesting that p.(Arg263Ter) is likely a founder mutation.

The authors underscore some phenotypic (though not facial) similarities with Rubinstein-Taybi syndrome 2 due to EP300 mutations (in line with the role of TTC5).

Biallelic variants in genes encoding other members of the TTC family (containing a TPR motif), e.g. TTC8 or TTC15 cause disorders with neurologic manifestations (and DD/ID).
Sources: Literature
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 to Beckwith-Wiedemann syndrome 130650
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.87 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None
Vascular Malformations_Germline v0.85 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Vascular Malformations_Germline v0.85 SOS1 Zornitza Stark Gene: sos1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.84 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2986 ACAD11 Zornitza Stark Marked gene: ACAD11 as ready
Mendeliome v0.2986 ACAD11 Zornitza Stark Gene: acad11 has been classified as Red List (Low Evidence).
Mendeliome v0.2986 ACAD11 Zornitza Stark Classified gene: ACAD11 as Red List (low evidence)
Mendeliome v0.2986 ACAD11 Zornitza Stark Gene: acad11 has been classified as Red List (Low Evidence).
Mendeliome v0.2985 ACAD11 Zornitza Stark reviewed gene: ACAD11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Heterotaxy v0.96 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Long QT Syndrome v0.57 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from long QT syndrome; acquired LQTS to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695; Acquired LQTS
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Added comment: Comment when marking as ready: Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited.
Long QT Syndrome v0.56 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.56 SNTA1 Zornitza Stark Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955
Long QT Syndrome v0.55 SNTA1 Zornitza Stark Publications for gene: SNTA1 were set to
Long QT Syndrome v0.54 SNTA1 Zornitza Stark Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.53 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Long QT Syndrome v0.53 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.52 SNTA1 Zornitza Stark Tag disputed tag was added to gene: SNTA1.
Long QT Syndrome v0.52 TRDN Zornitza Stark Marked gene: TRDN as ready
Long QT Syndrome v0.52 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Long QT Syndrome v0.52 TRDN Zornitza Stark Publications for gene: TRDN were set to long QT syndrome
Long QT Syndrome v0.51 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from PMID: 31983240; 25922419 to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Long QT Syndrome v0.50 TRDN Zornitza Stark Classified gene: TRDN as Green List (high evidence)
Long QT Syndrome v0.50 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Long QT Syndrome v0.49 CALM2 Zornitza Stark Marked gene: CALM2 as ready
Long QT Syndrome v0.49 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.49 CALM2 Zornitza Stark Phenotypes for gene: CALM2 were changed from long QT syndrome to Long QT syndrome 15, MIM# 616249
Long QT Syndrome v0.48 CALM2 Zornitza Stark Classified gene: CALM2 as Green List (high evidence)
Long QT Syndrome v0.48 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.46 CALM1 Zornitza Stark Marked gene: CALM1 as ready
Long QT Syndrome v0.46 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.46 CALM1 Zornitza Stark Phenotypes for gene: CALM1 were changed from long QT syndrome to Long QT syndrome 14, MIM# 616247
Long QT Syndrome v0.45 CALM1 Zornitza Stark Classified gene: CALM1 as Green List (high evidence)
Long QT Syndrome v0.45 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.44 SCN4B Zornitza Stark Marked gene: SCN4B as ready
Long QT Syndrome v0.44 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Long QT Syndrome v0.44 SCN4B Zornitza Stark Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM# 611819
Long QT Syndrome v0.43 SCN4B Zornitza Stark Publications for gene: SCN4B were set to
Long QT Syndrome v0.42 SCN4B Zornitza Stark Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.41 SCN4B Zornitza Stark Classified gene: SCN4B as Red List (low evidence)
Long QT Syndrome v0.41 SCN4B Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence).
Long QT Syndrome v0.40 SCN4B Zornitza Stark Tag disputed tag was added to gene: SCN4B.
Long QT Syndrome v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.39 KCNJ5 Zornitza Stark Phenotypes for gene: KCNJ5 were changed from to Long QT syndrome 13, MIM# 613485
Long QT Syndrome v0.38 KCNJ5 Zornitza Stark Publications for gene: KCNJ5 were set to
Long QT Syndrome v0.37 KCNJ5 Zornitza Stark Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Tag disputed tag was added to gene: KCNJ5.
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Classified gene: KCNJ5 as Red List (low evidence)
Long QT Syndrome v0.36 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence).
Heterotaxy v0.95 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Heterotaxy v0.95 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.95 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.95 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.94 NPHP4 Zornitza Stark Classified gene: NPHP4 as Amber List (moderate evidence)
Heterotaxy v0.94 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.45 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Congenital Heart Defect v0.45 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.45 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)
Congenital Heart Defect v0.44 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to
Congenital Heart Defect v0.43 NKX2-5 Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.43 NKX2-5 Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v0.93 CCNO Zornitza Stark Marked gene: CCNO as ready
Heterotaxy v0.93 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Heterotaxy v0.93 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872
Heterotaxy v0.92 CCNO Zornitza Stark Publications for gene: CCNO were set to
Heterotaxy v0.91 CCNO Zornitza Stark Mode of inheritance for gene: CCNO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.90 CCNO Zornitza Stark Classified gene: CCNO as Red List (low evidence)
Heterotaxy v0.90 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Heterotaxy v0.89 CRELD1 Zornitza Stark Classified gene: CRELD1 as Amber List (moderate evidence)
Heterotaxy v0.89 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.88 CRELD1 Zornitza Stark changed review comment from: Three families reported with heterozygous missense variants and heterotaxy phenotype.
Sources: Expert list; to: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Sources: Expert list
Heterotaxy v0.88 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: AMBER
Heterotaxy v0.88 DNAAF2 Zornitza Stark Marked gene: DNAAF2 as ready
Heterotaxy v0.88 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Heterotaxy v0.88 DNAAF2 Zornitza Stark Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10 612518
Heterotaxy v0.87 DNAAF2 Zornitza Stark Publications for gene: DNAAF2 were set to
Heterotaxy v0.86 DNAAF2 Zornitza Stark Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.85 DNAH1 Zornitza Stark Marked gene: DNAH1 as ready
Heterotaxy v0.85 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Red List (Low Evidence).
Heterotaxy v0.85 DNAH1 Zornitza Stark Classified gene: DNAH1 as Red List (low evidence)
Heterotaxy v0.85 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Red List (Low Evidence).
Mendeliome v0.2985 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Mendeliome v0.2985 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2985 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Mendeliome v0.2985 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Ciliary Dyskinesia v0.108 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Ciliary Dyskinesia v0.107 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.106 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: None
Heterotaxy v0.84 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Heterotaxy v0.84 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Heterotaxy v0.84 DNAH9 Zornitza Stark Classified gene: DNAH9 as Green List (high evidence)
Heterotaxy v0.84 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Mendeliome v0.2984 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Mendeliome v0.2984 DRC1 Zornitza Stark Gene: drc1 has been classified as Green List (High Evidence).
Mendeliome v0.2984 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294
Mendeliome v0.2983 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Mendeliome v0.2982 DRC1 Zornitza Stark Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2981 DRC1 Zornitza Stark Tag SV/CNV tag was added to gene: DRC1.
Mendeliome v0.2981 DRC1 Zornitza Stark edited their review of gene: DRC1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2981 DRC1 Zornitza Stark reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960620; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: None
Heterotaxy v0.83 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Heterotaxy v0.83 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Heterotaxy v0.83 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294
Heterotaxy v0.82 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Heterotaxy v0.81 DRC1 Zornitza Stark Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.80 DRC1 Zornitza Stark Classified gene: DRC1 as Red List (low evidence)
Heterotaxy v0.80 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.42 TLL1 Zornitza Stark Marked gene: TLL1 as ready
Congenital Heart Defect v0.42 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.42 TLL1 Zornitza Stark Publications for gene: TLL1 were set to
Congenital Heart Defect v0.41 TLL1 Zornitza Stark Mode of inheritance for gene: TLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.40 TLL1 Zornitza Stark reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18830233, 30538173, 27418595, 31570783; Phenotypes: Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2981 TLL1 Zornitza Stark Phenotypes for gene: TLL1 were changed from to Atrial septal defect
Mendeliome v0.2980 TLL1 Zornitza Stark Publications for gene: TLL1 were set to
Mendeliome v0.2979 TLL1 Zornitza Stark Mode of inheritance for gene: TLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2978 TLL1 Dean Phelan reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18830233, 30538173, 27418595, 31570783; Phenotypes: Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2978 HIST1H4J Zornitza Stark Marked gene: HIST1H4J as ready
Mendeliome v0.2978 HIST1H4J Zornitza Stark Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2978 HIST1H4J Zornitza Stark Classified gene: HIST1H4J as Amber List (moderate evidence)
Mendeliome v0.2978 HIST1H4J Zornitza Stark Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2977 HIST1H4J Zornitza Stark gene: HIST1H4J was added
gene: HIST1H4J was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HIST1H4J were set to 31804630
Phenotypes for gene: HIST1H4J were set to microcephaly; intellectual disability; dysmorphic features
Review for gene: HIST1H4J was set to AMBER
Added comment: Single case report but with functional evidence in zebrafish and phenotypic similarity to other HIST1H4C phenotype
Sources: Literature
Mendeliome v0.2976 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Mendeliome v0.2976 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Mendeliome v0.2976 MCIDAS Zornitza Stark Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)
Mendeliome v0.2975 MCIDAS Zornitza Stark Publications for gene: MCIDAS were set to
Mendeliome v0.2974 MCIDAS Zornitza Stark Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2973 MCIDAS Zornitza Stark reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.79 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Heterotaxy v0.79 MCIDAS Zornitza Stark Gene: mcidas has been classified as Red List (Low Evidence).
Heterotaxy v0.79 MCIDAS Zornitza Stark Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)
Heterotaxy v0.78 MCIDAS Zornitza Stark Publications for gene: MCIDAS were set to
Heterotaxy v0.77 MCIDAS Zornitza Stark Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.76 MCIDAS Zornitza Stark Classified gene: MCIDAS as Red List (low evidence)
Heterotaxy v0.76 MCIDAS Zornitza Stark Gene: mcidas has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)
Ciliary Dyskinesia v0.105 MCIDAS Zornitza Stark Publications for gene: MCIDAS were set to
Ciliary Dyskinesia v0.104 MCIDAS Zornitza Stark Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2973 VWA3B Zornitza Stark Marked gene: VWA3B as ready
Mendeliome v0.2973 VWA3B Zornitza Stark Gene: vwa3b has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.13 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.12 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Muscular dystrophy. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Multiple families reported but highly variable phenotype; muscular dystrophy reported frequently.
Sources: Literature
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence)
Arthrogryposis v0.49 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Arthrogryposis v0.48 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals.
Sources: Literature
Mendeliome v0.2973 TOR1AIP1 Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures
Mendeliome v0.2972 TOR1AIP1 Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness
Mendeliome v0.2971 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Mendeliome v0.2971 TOR1AIP1 Zornitza Stark Added comment: Comment when marking as ready: Highly variable phenotype. Few of the features are consistently reported across affected individuals.
Mendeliome v0.2971 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.2971 TOR1AIP1 Zornitza Stark Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937
Leukodystrophy v0.127 CNP Zornitza Stark Marked gene: CNP as ready
Leukodystrophy v0.127 CNP Zornitza Stark Gene: cnp has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.127 CNP Zornitza Stark Classified gene: CNP as Amber List (moderate evidence)
Leukodystrophy v0.127 CNP Zornitza Stark Gene: cnp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2970 EFEMP1 Zornitza Stark Marked gene: EFEMP1 as ready
Mendeliome v0.2970 EFEMP1 Zornitza Stark Gene: efemp1 has been classified as Green List (High Evidence).
Mendeliome v0.2970 EFEMP1 Zornitza Stark Phenotypes for gene: EFEMP1 were changed from to Doyne honeycomb degeneration of retina, MIM# 126600; EFEMP1-related connective tissue disorder
Mendeliome v0.2969 EFEMP1 Zornitza Stark Publications for gene: EFEMP1 were set to
Mendeliome v0.2968 EFEMP1 Zornitza Stark Mode of inheritance for gene: EFEMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2967 ZFYVE27 Bryony Thompson Classified gene: ZFYVE27 as Red List (low evidence)
Mendeliome v0.2967 ZFYVE27 Bryony Thompson Gene: zfyve27 has been classified as Red List (Low Evidence).
Mendeliome v0.2966 ZFYVE27 Bryony Thompson reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 29980238, 18606302; Phenotypes: Spastic paraplegia 33, autosomal dominant MIM#610244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2966 EFEMP1 Zornitza Stark reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006683, 31792352; Phenotypes: Doyne honeycomb degeneration of retina, MIM# 126600, EFEMP1-related connective tissue disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.25 EFEMP1 Zornitza Stark Marked gene: EFEMP1 as ready
Aortopathy_Connective Tissue Disorders v0.25 EFEMP1 Zornitza Stark Gene: efemp1 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.25 EFEMP1 Zornitza Stark Classified gene: EFEMP1 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v0.25 EFEMP1 Zornitza Stark Gene: efemp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2966 TOR1AIP1 Kristin Rigbye reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32055997; Phenotypes: TOR1AIP1-associated nuclear envelopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.349 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss; minor motor developmental delay
Deafness_IsolatedAndComplex v0.348 SLC12A2 Zornitza Stark Publications for gene: SLC12A2 were set to 30740830
Deafness_IsolatedAndComplex v0.347 SLC12A2 Zornitza Stark Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2966 USP8 Bryony Thompson Classified gene: USP8 as Green List (high evidence)
Mendeliome v0.2966 USP8 Bryony Thompson Gene: usp8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.346 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.346 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.24 EFEMP1 Michelle Torres gene: EFEMP1 was added
gene: EFEMP1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to EFEMP1-related connective tissue disorder
Review for gene: EFEMP1 was set to AMBER
Added comment: New gene-disease association for EFEMP1: truncating variants (absent in gnomAD):

PMID 31792352 reports one man with a pronounced connective tissue phenotype presenting multiple and recurrent abdominal and thoracic herniae, myopia, hypermobile joints, scoliosis, and thin translucent skin. This individual has no clinical signs of retinal dystrophy.

PMID 32006683 reports 2 homozygous siblings (consanguinous) with multiple and recurrent herniae, pelvic and rectal prolapse, huge diverticula, marfanoid habitus, joint laxity, dorsal scoliosis, advanced bone age, pectus excavatum, dysmorphic facial features, and myopia. Both were homozygous for a truncating in VCPKMT, with no gene-disease association in OMIM, not in Panel App.

Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance.
Sources: Literature
Mendeliome v0.2965 USP8 Bryony Thompson gene: USP8 was added
gene: USP8 was added to Mendeliome. Sources: Expert list
somatic tags were added to gene: USP8.
Mode of inheritance for gene: USP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: USP8 were set to 25675982; 24482476; 25485838; 25942478
Phenotypes for gene: USP8 were set to Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090; hereditary spastic paraplegia
Review for gene: USP8 was set to GREEN
Added comment: Recurrent somatic gain of function missense variants in pituitary adenomas cause Cushing's disease.
A single family reported with spastic paraplegia with a homozygous variant, and a zebrafish model with a movement disorder.
Sources: Expert list
Deafness_IsolatedAndComplex v0.345 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.345 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Green List (High Evidence).
Mendeliome v0.2964 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Mendeliome v0.2964 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Mendeliome v0.2964 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from to nystagmus; retinal dysfunction; autism; night blindness
Mendeliome v0.2963 RIMS2 Zornitza Stark Classified gene: RIMS2 as Green List (high evidence)
Mendeliome v0.2963 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Mendeliome v0.2962 RIMS2 Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: nystagmus, retinal dysfunction, autism, night blindness; Mode of inheritance: None
Autism v0.97 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Autism v0.97 RIMS2 Zornitza Stark Added comment: Comment when marking as ready: Most affected individuals reported as having autism.
Autism v0.97 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Autism v0.97 RIMS2 Zornitza Stark Classified gene: RIMS2 as Green List (high evidence)
Autism v0.97 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark Classified gene: RIMS2 as Green List (high evidence)
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Marked gene: SOX6 as ready
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Added comment: Comment when marking as ready: Most individuals had ID, ranging from mild to severe.
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Classified gene: SOX6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2659 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.17 TRIM71 Zornitza Stark Marked gene: TRIM71 as ready
Hydrocephalus_Ventriculomegaly v0.17 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.17 TRIM71 Zornitza Stark Mode of pathogenicity for gene: TRIM71 was changed from Other to None
Leukodystrophy v0.126 CNP Kristin Rigbye gene: CNP was added
gene: CNP was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258
Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy
Review for gene: CNP was set to AMBER
Added comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling).
Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts.
Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family.
Sources: Literature
Mendeliome v0.2962 TRIM71 Seb Lunke Mode of pathogenicity for gene: TRIM71 was changed from Other to None
Hydrocephalus_Ventriculomegaly v0.16 TRIM71 Zornitza Stark Classified gene: TRIM71 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.16 TRIM71 Zornitza Stark Gene: trim71 has been classified as Green List (High Evidence).
Mendeliome v0.2961 TRIM71 Seb Lunke Marked gene: TRIM71 as ready
Mendeliome v0.2961 TRIM71 Seb Lunke Gene: trim71 has been classified as Green List (High Evidence).
Mendeliome v0.2961 TRIM71 Seb Lunke Classified gene: TRIM71 as Green List (high evidence)
Mendeliome v0.2961 TRIM71 Seb Lunke Gene: trim71 has been classified as Green List (High Evidence).
Mendeliome v0.2960 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Mendeliome v0.2960 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2960 SCYL2 Zornitza Stark Classified gene: SCYL2 as Amber List (moderate evidence)
Mendeliome v0.2960 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2959 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Review for gene: SCYL2 was set to AMBER
Added comment: Two unrelated families reported with AMC, variable other features including microcephaly.
Sources: Literature
Mendeliome v0.2958 CNP Seb Lunke Marked gene: CNP as ready
Mendeliome v0.2958 CNP Seb Lunke Gene: cnp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2958 CNP Seb Lunke Classified gene: CNP as Amber List (moderate evidence)
Mendeliome v0.2958 CNP Seb Lunke Gene: cnp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2957 VWA3B Bryony Thompson edited their review of gene: VWA3B: Changed rating: RED
Mendeliome v0.2957 VWA3B Bryony Thompson Classified gene: VWA3B as Red List (low evidence)
Mendeliome v0.2957 VWA3B Bryony Thompson Added comment: Comment on list classification: Single family and in vitro assay only
Mendeliome v0.2957 VWA3B Bryony Thompson Gene: vwa3b has been classified as Red List (Low Evidence).
Congenital Stationary Night Blindness v0.2 RIMS2 Paul De Fazio gene: RIMS2 was added
gene: RIMS2 was added to Congenital Stationary Night Blindness. Sources: Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to nystagmus; retinal dysfunction; autism; night blindness
Review for gene: RIMS2 was set to GREEN
Added comment: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness.
Sources: Literature
Autism v0.96 RIMS2 Paul De Fazio changed review comment from: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness.
Sources: Literature
Mendeliome v0.2956 RIMS2 Paul De Fazio changed review comment from: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness.
Sources: Literature
Arthrogryposis v0.47 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Arthrogryposis v0.47 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.47 SCYL2 Zornitza Stark Classified gene: SCYL2 as Amber List (moderate evidence)
Arthrogryposis v0.47 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Autism v0.96 RIMS2 Paul De Fazio changed review comment from: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism.
Sources: Literature
Autism v0.96 RIMS2 Paul De Fazio gene: RIMS2 was added
gene: RIMS2 was added to Autism. Sources: Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to nystagmus; retinal dysfunction; autism; night blindness
Review for gene: RIMS2 was set to GREEN
Added comment: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature
Mendeliome v0.2956 VWA3B Bryony Thompson Classified gene: VWA3B as Amber List (moderate evidence)
Mendeliome v0.2956 VWA3B Bryony Thompson Gene: vwa3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2955 VWA3B Bryony Thompson gene: VWA3B was added
gene: VWA3B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA3B were set to 26157035
Phenotypes for gene: VWA3B were set to Spinocerebellar ataxia, autosomal recessive 22 MIM#616948
Review for gene: VWA3B was set to AMBER
Added comment: A homozygous missense variant was identified in 3 brothers from a single consanguineous Japanese family with autosomal recessive cerebellar ataxia. Transfection of the mutant VWA3B protein into several different cultured cell lines resulted in decreased cell viability.
Sources: Expert list
Deafness_IsolatedAndComplex v0.344 SLC12A2 Ee Ming Wong reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32294086; Phenotypes: Congenital, severe to profound hearing loss, minor motor developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2954 SLC12A2 Zornitza Stark Phenotypes for gene: SLC12A2 were changed from Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation to Kilquist syndrome: deafness, intellectual disability, dysmorphic features, absent salivation; Congenital, severe to profound hearing loss
Mendeliome v0.2953 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome. Paper says 19 individuals from 17 families. 12 were de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome. Paper says 19 individuals from 17 families. 12 were de novo.
Sources: Literature
Mendeliome v0.2953 SLC12A2 Zornitza Stark Publications for gene: SLC12A2 were set to 30740830
Mendeliome v0.2952 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio changed review comment from: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me (paper says 19 individuals from 17 families). 12 were de novo.
Sources: Literature
Mendeliome v0.2952 SLC12A2 Zornitza Stark Mode of inheritance for gene: SLC12A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2952 PLD3 Bryony Thompson Classified gene: PLD3 as Amber List (moderate evidence)
Mendeliome v0.2952 PLD3 Bryony Thompson Gene: pld3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2951 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Green List (high evidence)
Mendeliome v0.2951 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2658 SOX6 Paul De Fazio gene: SOX6 was added
gene: SOX6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas
Review for gene: SOX6 was set to GREEN
Added comment: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature
Mendeliome v0.2950 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLD3 were set to 29053796; 30312375; 30312384
Phenotypes for gene: PLD3 were set to Spinocerebellar ataxia 46 MIM#617770
Review for gene: PLD3 was set to AMBER
Added comment: A heterozygous missense was identified in 8 affected members of a single family with spinocerebellar ataxia, and supporting in vitro functional assays.
Sources: Expert list
Mendeliome v0.2949 SOX6 Paul De Fazio changed review comment from: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature; to: 6 LoF, 4 missense, and 6 intragenic deletion variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature
Mendeliome v0.2949 SPATA13 Zornitza Stark Marked gene: SPATA13 as ready
Mendeliome v0.2949 SPATA13 Zornitza Stark Added comment: Comment when marking as ready: Adult-onset.
Mendeliome v0.2949 SPATA13 Zornitza Stark Gene: spata13 has been classified as Green List (High Evidence).
Mendeliome v0.2949 SPATA13 Zornitza Stark Classified gene: SPATA13 as Green List (high evidence)
Mendeliome v0.2949 SPATA13 Zornitza Stark Gene: spata13 has been classified as Green List (High Evidence).
Mendeliome v0.2948 SPATA13 Zornitza Stark reviewed gene: SPATA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Craniosynostosis v0.3 SOX6 Seb Lunke Marked gene: SOX6 as ready
Craniosynostosis v0.3 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Craniosynostosis v0.3 SOX6 Seb Lunke Classified gene: SOX6 as Green List (high evidence)
Craniosynostosis v0.3 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Craniosynostosis v0.2 SOX6 Seb Lunke gene: SOX6 was added
gene: SOX6 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas
Review for gene: SOX6 was set to GREEN
gene: SOX6 was marked as current diagnostic
Added comment: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me. Sources: Literature
Sources: Literature
Mendeliome v0.2948 SOX6 Seb Lunke Marked gene: SOX6 as ready
Mendeliome v0.2948 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Ciliopathies v0.187 KIF3B Zornitza Stark Marked gene: KIF3B as ready
Ciliopathies v0.187 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.187 KIF3B Zornitza Stark Classified gene: KIF3B as Amber List (moderate evidence)
Ciliopathies v0.187 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.186 KIF3B Zornitza Stark gene: KIF3B was added
gene: KIF3B was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: Two unrelated families with a ciliopathy phenotype and some functional data.
Sources: Literature
Mendeliome v0.2948 SOX6 Seb Lunke Classified gene: SOX6 as Green List (high evidence)
Mendeliome v0.2948 SOX6 Seb Lunke Gene: sox6 has been classified as Green List (High Evidence).
Mendeliome v0.2947 KIF3B Zornitza Stark Marked gene: KIF3B as ready
Mendeliome v0.2947 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2947 KIF3B Zornitza Stark Publications for gene: KIF3B were set to
Mendeliome v0.2946 KIF3B Zornitza Stark Classified gene: KIF3B as Amber List (moderate evidence)
Mendeliome v0.2946 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2945 KIF3B Zornitza Stark edited their review of gene: KIF3B: Changed rating: AMBER
Mendeliome v0.2945 KIF3B Zornitza Stark reviewed gene: KIF3B: Rating: RED; Mode of pathogenicity: None; Publications: 32386558; Phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly; Mode of inheritance: None
Mendeliome v0.2945 POC5 Bryony Thompson Marked gene: POC5 as ready
Mendeliome v0.2945 POC5 Bryony Thompson Gene: poc5 has been classified as Green List (High Evidence).
Mendeliome v0.2945 POC5 Bryony Thompson Classified gene: POC5 as Green List (high evidence)
Mendeliome v0.2945 POC5 Bryony Thompson Gene: poc5 has been classified as Green List (High Evidence).
Mendeliome v0.2944 POC5 Bryony Thompson gene: POC5 was added
gene: POC5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POC5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POC5 were set to 25642776; 29272404
Phenotypes for gene: POC5 were set to Idiopathic scoliosis; retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Review for gene: POC5 was set to GREEN
Added comment: Three heterozygous missense variants identified in three families segregating with idiopathic scoliosis, and supporting zebrafish models for each of the missense variants.
Also, one case reported with retinitis pigmentosa, short stature, microcephaly, and recurrent glomerulonephritis with a homozygous truncating variant and a supporting zebrafish model.
Sources: Literature
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.35 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to long QT syndrome; Andersen-Tawil syndrome
Long QT Syndrome v0.34 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Long QT Syndrome v0.33 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2943 KIF3B Paul De Fazio gene: KIF3B was added
gene: KIF3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: 2 families reported with missense variants, one de novo and one segregating in a six-generation pedigree. Functional studies in zebrafish showed the variants result in impaired rhodopsin trafficking.
Sources: Literature
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Long QT Syndrome v0.32 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to long QT syndrome
Long QT Syndrome v0.31 KCNH2 Zornitza Stark Publications for gene: KCNH2 were set to
Long QT Syndrome v0.30 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Marked gene: KCNE2 as ready
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.29 KCNE2 Zornitza Stark Phenotypes for gene: KCNE2 were changed from to Long QT syndrome
Mendeliome v0.2943 SPATA13 Ain Roesley changed review comment from: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp.
Sources: Literature; to: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp.
Sources: Literature
Long QT Syndrome v0.28 KCNE2 Zornitza Stark Publications for gene: KCNE2 were set to
Mendeliome v0.2943 SPATA13 Ain Roesley gene: SPATA13 was added
gene: SPATA13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPATA13 were set to PMID: 32339198
Phenotypes for gene: SPATA13 were set to primary angle-closure glaucoma
Added comment: PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp.
Sources: Literature
Long QT Syndrome v0.27 KCNE2 Zornitza Stark Classified gene: KCNE2 as Amber List (moderate evidence)
Long QT Syndrome v0.27 KCNE2 Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2943 SOX6 Paul De Fazio gene: SOX6 was added
gene: SOX6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to ADHD; Craniosynostosis; Osteochondromas
Added comment: 6 LoF and 4 missense variants identified in individuals with a neurodevelopmental syndrome, however the number of families is unclear to me.
Sources: Literature
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.26 KCNE1 Zornitza Stark Publications for gene: KCNE1 were set to
Long QT Syndrome v0.25 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from to long QT syndrome; acquired LQTS
Long QT Syndrome v0.24 KCNE1 Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2943 CNP Kristin Rigbye gene: CNP was added
gene: CNP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNP were set to 32128616; 12590258
Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy
Review for gene: CNP was set to AMBER
Added comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling).
Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts.
Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family.
Sources: Literature
Long QT Syndrome v0.23 KCNE1 Zornitza Stark Classified gene: KCNE1 as Amber List (moderate evidence)
Long QT Syndrome v0.23 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.22 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Long QT Syndrome v0.22 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.22 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from to Long QT syndrome 9, MIM# 611818
Long QT Syndrome v0.21 CAV3 Zornitza Stark Publications for gene: CAV3 were set to
Long QT Syndrome v0.20 CAV3 Zornitza Stark Mode of pathogenicity for gene: CAV3 was changed from to None
Long QT Syndrome v0.19 CAV3 Zornitza Stark Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.18 CAV3 Zornitza Stark Classified gene: CAV3 as Amber List (moderate evidence)
Long QT Syndrome v0.18 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT Syndrome v0.17 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 9, MIM# 611818; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2943 SLC12A2 Ee Ming Wong reviewed gene: SLC12A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32294086; Phenotypes: Congenital, severe to profound hearing loss, minor motor developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa v0.55 Bryony Thompson removed gene:POC5 from the panel
Syndromic Retinopathy v0.72 POC5 Bryony Thompson Phenotypes for gene: POC5 were changed from to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Syndromic Retinopathy v0.71 POC5 Bryony Thompson Publications for gene: POC5 were set to
Syndromic Retinopathy v0.70 POC5 Bryony Thompson Mode of inheritance for gene: POC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Long QT Syndrome v0.17 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005 to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Long QT Syndrome v0.16 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Hydrocephalus_Ventriculomegaly v0.15 TRIM71 Elena Savva gene: TRIM71 was added
gene: TRIM71 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 618667
Mode of pathogenicity for gene: TRIM71 was set to Other
Review for gene: TRIM71 was set to GREEN
Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.

PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder

PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism.
Sources: Literature
Mendeliome v0.2943 TRIM71 Elena Savva reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29983323, 32168371, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1 618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2943 TRIM71 Elena Savva Deleted their review
Mendeliome v0.2943 RIMS2 Paul De Fazio changed review comment from: Segregates with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature
Long QT Syndrome v0.15 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Mendeliome v0.2943 TRIM71 Elena Savva gene: TRIM71 was added
gene: TRIM71 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 618667
Mode of pathogenicity for gene: TRIM71 was set to Other
Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.

PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder

PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism.
Sources: Literature
Long QT Syndrome v0.14 CACNA1C Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.13 ANK2 Zornitza Stark edited their review of gene: ANK2: Changed phenotypes: Long QT syndrome 4, MIM# 600919
Long QT Syndrome v0.13 ANK2 Zornitza Stark Tag disputed tag was added to gene: ANK2.
Long QT Syndrome v0.13 ANK2 Zornitza Stark Marked gene: ANK2 as ready
Long QT Syndrome v0.13 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.13 ANK2 Zornitza Stark Phenotypes for gene: ANK2 were changed from to Long QT syndrome 4, MIM# 600919
Mendeliome v0.2943 RIMS2 Paul De Fazio gene: RIMS2 was added
gene: RIMS2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Review for gene: RIMS2 was set to GREEN
Added comment: Segregates with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature
Long QT Syndrome v0.12 ANK2 Zornitza Stark Publications for gene: ANK2 were set to
Long QT Syndrome v0.11 ANK2 Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
Long QT Syndrome v0.11 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.10 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.46 SCYL2 Kristin Rigbye gene: SCYL2 was added
gene: SCYL2 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Review for gene: SCYL2 was set to AMBER
Added comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).
Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146).
Sources: Literature
Incidentalome v0.31 AKAP9 Zornitza Stark Tag disputed tag was added to gene: AKAP9.
Incidentalome v0.31 AKAP9 Zornitza Stark Marked gene: AKAP9 as ready
Incidentalome v0.31 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Incidentalome v0.31 AKAP9 Zornitza Stark Phenotypes for gene: AKAP9 were changed from to Long QT syndrome 11, MIM# 611820
Incidentalome v0.30 AKAP9 Zornitza Stark Publications for gene: AKAP9 were set to
Incidentalome v0.29 AKAP9 Zornitza Stark Mode of inheritance for gene: AKAP9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.28 AKAP9 Zornitza Stark Classified gene: AKAP9 as Red List (low evidence)
Incidentalome v0.28 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Incidentalome v0.27 AKAP9 Zornitza Stark reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 11, MIM# 611820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Tag disputed tag was added to gene: AKAP9.
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Marked gene: AKAP9 as ready
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Long QT Syndrome v0.10 AKAP9 Zornitza Stark Phenotypes for gene: AKAP9 were changed from to long QT syndrome
Long QT Syndrome v0.9 AKAP9 Zornitza Stark Publications for gene: AKAP9 were set to
Long QT Syndrome v0.8 AKAP9 Zornitza Stark Classified gene: AKAP9 as Red List (low evidence)
Long QT Syndrome v0.8 AKAP9 Zornitza Stark Gene: akap9 has been classified as Red List (Low Evidence).
Mendeliome v0.2943 RBM7 Bryony Thompson Classified gene: RBM7 as Amber List (moderate evidence)
Mendeliome v0.2943 RBM7 Bryony Thompson Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2942 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA
Review for gene: RBM7 was set to AMBER
Added comment: Single case with a homozygote variant, with functional assays in patient fibroblasts. Also, supporting zebrafish model.
Sources: Expert list
Mendeliome v0.2941 SORD Seb Lunke Marked gene: SORD as ready
Mendeliome v0.2941 SORD Seb Lunke Gene: sord has been classified as Green List (High Evidence).
Mendeliome v0.2941 SORD Seb Lunke Classified gene: SORD as Green List (high evidence)
Mendeliome v0.2941 SORD Seb Lunke Gene: sord has been classified as Green List (High Evidence).
Mendeliome v0.2940 SORD Seb Lunke gene: SORD was added
gene: SORD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to 32367058
Phenotypes for gene: SORD were set to isolated hereditary neuropathy
Review for gene: SORD was set to GREEN
gene: SORD was marked as current diagnostic
Added comment: 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG
(p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state
Sources: Literature
Brugada syndrome v0.34 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from to Brugada syndrome
Brugada syndrome v0.33 KCND3 Zornitza Stark Tag disputed tag was added to gene: KCND3.
Brugada syndrome v0.33 CACNB2 Zornitza Stark Tag disputed tag was added to gene: CACNB2.
Brugada syndrome v0.33 CACNA2D1 Zornitza Stark Tag disputed tag was added to gene: CACNA2D1.
Brugada syndrome v0.33 CACNA1C Zornitza Stark Tag disputed tag was added to gene: CACNA1C.
Incidentalome v0.27 GPD1L Zornitza Stark Classified gene: GPD1L as Red List (low evidence)
Incidentalome v0.27 GPD1L Zornitza Stark Gene: gpd1l has been classified as Red List (Low Evidence).
Brugada syndrome v0.33 GPD1L Zornitza Stark Publications for gene: GPD1L were set to 17967977; 19666841
Brugada syndrome v0.32 GPD1L Zornitza Stark Classified gene: GPD1L as Red List (low evidence)
Brugada syndrome v0.32 GPD1L Zornitza Stark Gene: gpd1l has been classified as Red List (Low Evidence).
Brugada syndrome v0.31 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Brugada syndrome v0.31 SCN1B Zornitza Stark Gene: scn1b has been classified as Red List (Low Evidence).
Brugada syndrome v0.31 SCN1B Zornitza Stark Publications for gene: SCN1B were set to
Brugada syndrome v0.30 SCN1B Zornitza Stark Classified gene: SCN1B as Red List (low evidence)
Brugada syndrome v0.30 SCN1B Zornitza Stark Gene: scn1b has been classified as Red List (Low Evidence).
Brugada syndrome v0.29 SCN1B Zornitza Stark Tag disputed tag was added to gene: SCN1B.
Brugada syndrome v0.29 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Brugada syndrome v0.29 SCN10A Zornitza Stark Gene: scn10a has been classified as Red List (Low Evidence).
Brugada syndrome v0.29 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from to Brugada syndrome
Brugada syndrome v0.28 SCN10A Zornitza Stark Publications for gene: SCN10A were set to
Brugada syndrome v0.27 SCN10A Zornitza Stark Classified gene: SCN10A as Red List (low evidence)
Brugada syndrome v0.27 SCN10A Zornitza Stark Gene: scn10a has been classified as Red List (Low Evidence).
Brugada syndrome v0.26 SCN10A Zornitza Stark Tag disputed tag was added to gene: SCN10A.
Mendeliome v0.2940 KCNJ8 Zornitza Stark Marked gene: KCNJ8 as ready
Mendeliome v0.2940 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Red List (Low Evidence).
Mendeliome v0.2940 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from to Brugada syndrome
Mendeliome v0.2939 KCNJ8 Zornitza Stark Publications for gene: KCNJ8 were set to
Mendeliome v0.2938 KCNJ8 Zornitza Stark Mode of inheritance for gene: KCNJ8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2937 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Red List (low evidence)
Mendeliome v0.2937 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Red List (Low Evidence).
Mendeliome v0.2936 KCNJ8 Zornitza Stark Tag disputed tag was added to gene: KCNJ8.
Mendeliome v0.2936 KCNJ8 Zornitza Stark reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.26 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from to Brugada syndrome
Brugada syndrome v0.25 KCNJ8 Zornitza Stark Marked gene: KCNJ8 as ready
Brugada syndrome v0.25 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Red List (Low Evidence).
Brugada syndrome v0.25 KCNJ8 Zornitza Stark Tag disputed tag was added to gene: KCNJ8.
Mendeliome v0.2936 KCNE3 Zornitza Stark Marked gene: KCNE3 as ready
Mendeliome v0.2936 KCNE3 Zornitza Stark Gene: kcne3 has been classified as Red List (Low Evidence).
Mendeliome v0.2936 KCNE3 Zornitza Stark Phenotypes for gene: KCNE3 were changed from to Brugada syndrome
Mendeliome v0.2935 KCNE3 Zornitza Stark Publications for gene: KCNE3 were set to
Mendeliome v0.2934 KCNE3 Zornitza Stark Mode of inheritance for gene: KCNE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.25 KCNJ8 Zornitza Stark Publications for gene: KCNJ8 were set to
Brugada syndrome v0.24 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Red List (low evidence)
Brugada syndrome v0.24 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Red List (Low Evidence).
Brugada syndrome v0.23 KCNE3 Zornitza Stark Marked gene: KCNE3 as ready
Brugada syndrome v0.23 KCNE3 Zornitza Stark Gene: kcne3 has been classified as Red List (Low Evidence).
Brugada syndrome v0.23 KCNE3 Zornitza Stark Tag disputed tag was added to gene: KCNE3.
Mendeliome v0.2933 KCNE3 Zornitza Stark Classified gene: KCNE3 as Red List (low evidence)
Mendeliome v0.2933 KCNE3 Zornitza Stark Gene: kcne3 has been classified as Red List (Low Evidence).
Mendeliome v0.2932 KCNE3 Zornitza Stark reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.23 KCNE3 Zornitza Stark Publications for gene: KCNE3 were set to
Brugada syndrome v0.22 KCNE3 Zornitza Stark Classified gene: KCNE3 as Red List (low evidence)
Brugada syndrome v0.22 KCNE3 Zornitza Stark Gene: kcne3 has been classified as Red List (Low Evidence).
Brugada syndrome v0.21 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Brugada syndrome v0.21 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Brugada syndrome v0.21 KCND3 Zornitza Stark Publications for gene: KCND3 were set to
Brugada syndrome v0.20 KCND3 Zornitza Stark Classified gene: KCND3 as Red List (low evidence)
Brugada syndrome v0.20 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence).
Brugada syndrome v0.19 CACNB2 Zornitza Stark Marked gene: CACNB2 as ready
Brugada syndrome v0.19 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Brugada syndrome v0.19 CACNB2 Zornitza Stark Publications for gene: CACNB2 were set to
Brugada syndrome v0.18 CACNB2 Zornitza Stark Classified gene: CACNB2 as Red List (low evidence)
Brugada syndrome v0.18 CACNB2 Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence).
Brugada syndrome v0.17 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Brugada syndrome v0.17 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Brugada syndrome v0.17 CACNA2D1 Zornitza Stark Publications for gene: CACNA2D1 were set to
Brugada syndrome v0.16 CACNA2D1 Zornitza Stark Classified gene: CACNA2D1 as Red List (low evidence)
Brugada syndrome v0.16 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Red List (Low Evidence).
Brugada syndrome v0.15 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Brugada syndrome v0.15 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Brugada syndrome v0.15 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Brugada syndrome v0.14 CACNA1C Zornitza Stark Classified gene: CACNA1C as Red List (low evidence)
Brugada syndrome v0.14 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.103 MCIDAS Crystle Lee reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 MCIDAS Crystle Lee changed review comment from: PCD without situs invertus (OMIM)

PMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia; to: PCD without situs invertus (OMIM)

PMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.
Heterotaxy v0.75 MCIDAS Crystle Lee reviewed gene: MCIDAS: Rating: RED; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2658 HIST1H4J Sue White Classified gene: HIST1H4J as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2658 HIST1H4J Sue White Gene: hist1h4j has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White Marked gene: HIST1H4J as ready
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White Gene: hist1h4j has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2657 HIST1H4J Sue White gene: HIST1H4J was added
gene: HIST1H4J was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HIST1H4J were set to 31804630
Phenotypes for gene: HIST1H4J were set to microcephaly; intellectual disability; dysmorphic features
Penetrance for gene: HIST1H4J were set to Complete
Review for gene: HIST1H4J was set to AMBER
Added comment: single case report but with functional evidence in zebrafish and phenotypic similarity to other HIST1H4C phenotype
Sources: Literature
Chronic granulomatous disease v0.9 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Chronic granulomatous disease v0.8 NCF4 Bryony Thompson Classified gene: NCF4 as Green List (high evidence)
Chronic granulomatous disease v0.8 NCF4 Bryony Thompson Gene: ncf4 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.7 NCF4 Bryony Thompson reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 DRC1 Elena Savva reviewed gene: DRC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31960620, 32108610; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson edited their review of gene: C17orf62: Changed publications: 28600779, 30361506, 28351984, 30312704
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson Classified gene: C17orf62 as Green List (high evidence)
Chronic granulomatous disease v0.7 C17orf62 Bryony Thompson Gene: c17orf62 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.6 C17orf62 Bryony Thompson reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 28600779, 30361506, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chronic granulomatous disease v0.6 NOD2 Bryony Thompson Classified gene: NOD2 as Green List (high evidence)
Chronic granulomatous disease v0.6 NOD2 Bryony Thompson Gene: nod2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.5 NCF2 Bryony Thompson Classified gene: NCF2 as Green List (high evidence)
Chronic granulomatous disease v0.5 NCF2 Bryony Thompson Gene: ncf2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.4 NCF1 Bryony Thompson Classified gene: NCF1 as Green List (high evidence)
Chronic granulomatous disease v0.4 NCF1 Bryony Thompson Gene: ncf1 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.3 G6PD Bryony Thompson Classified gene: G6PD as Green List (high evidence)
Chronic granulomatous disease v0.3 G6PD Bryony Thompson Gene: g6pd has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.2 CYBB Bryony Thompson Classified gene: CYBB as Green List (high evidence)
Chronic granulomatous disease v0.2 CYBB Bryony Thompson Gene: cybb has been classified as Green List (High Evidence).
Congenital Heart Defect v0.40 MYH6 Crystle Lee reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20656787, 29969989, 15735645; Phenotypes: Atrial septal defect 3 (MIM#614089); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Chronic granulomatous disease v0.1 CYBA Bryony Thompson Classified gene: CYBA as Green List (high evidence)
Chronic granulomatous disease v0.1 CYBA Bryony Thompson Gene: cyba has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.0 NOD2 Bryony Thompson gene: NOD2 was added
gene: NOD2 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome MIM#186580
Chronic granulomatous disease v0.0 NCF4 Bryony Thompson gene: NCF4 was added
gene: NCF4 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF4 were set to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Chronic granulomatous disease v0.0 NCF2 Bryony Thompson gene: NCF2 was added
gene: NCF2 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710
Chronic granulomatous disease v0.0 NCF1 Bryony Thompson gene: NCF1 was added
gene: NCF1 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700
Chronic granulomatous disease v0.0 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: G6PD 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: G6PD were set to Hemolytic anemia, G6PD deficient (favism) MIM#300908
Chronic granulomatous disease v0.0 CYBB Bryony Thompson gene: CYBB was added
gene: CYBB was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked MIM#306400
Chronic granulomatous disease v0.0 CYBA Bryony Thompson gene: CYBA was added
gene: CYBA was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690
Chronic granulomatous disease v0.0 C17orf62 Bryony Thompson gene: C17orf62 was added
gene: C17orf62 was added to Chronic granulomatous disease. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Chronic granulomatous disease v0.0 Bryony Thompson Added panel Chronic granulomatous disease
Heterotaxy v0.75 DNAH9 Elena Savva gene: DNAH9 was added
gene: DNAH9 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to PMID: 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40 618300
Review for gene: DNAH9 was set to GREEN
Added comment: OMIM: Situs inversus of the heart

PMID: 30471717 - 4 patients (3 families) all with PCD and situs inversus.

PMID: 30471718 - 5 families with situs inversus totalis and/or heterotaxy
Sources: Expert list
Mendeliome v0.2932 DNAH6 Elena Savva gene: DNAH6 was added
gene: DNAH6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to PMID: 26918822
Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.
Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

Summary: 1 convincing patient with animal model
Sources: Literature
Heterotaxy v0.75 DNAH1 Elena Savva gene: DNAH1 was added
gene: DNAH1 was added to Heterotaxy. Sources: Expert list
Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH1 were set to PMID: 25927852; 24360805
Phenotypes for gene: DNAH1 were set to ?Ciliary dyskinesia, primary, 37 617577
Review for gene: DNAH1 was set to RED
Added comment: PMID: 25927852 - 2 homozygous siblings with a missense variant and PCD. Proband had situs invertus, sibling details unavailable.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. No mention of patients and situs inversus "Apart from infertility, none of the 20 individuals declared suffering from any of the principal PCD symptoms"

Summary: single report but emerging gene with limited reports
Sources: Expert list
Heterotaxy v0.75 DNAAF2 Elena Savva reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.75 CCNO Elena Savva reviewed gene: CCNO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24747639, 24824133, 31765523; Phenotypes: Ciliary dyskinesia, primary, 29 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.40 NKX2-5 Crystle Lee reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Heterotaxy v0.75 NPHP4 Crystle Lee gene: NPHP4 was added
gene: NPHP4 was added to Heterotaxy. Sources: Expert Review
Mode of inheritance for gene: NPHP4 was set to Unknown
Publications for gene: NPHP4 were set to 22550138
Phenotypes for gene: NPHP4 were set to Pleiotropic Heart Malformations (PMID: 22550138)
Review for gene: NPHP4 was set to AMBER
Added comment: Single publication in 2012 reported biallelic variants in a consanguineous family and additional heterozygous variants in sporadic patients with cardiac laterality defects. Knockdown nphp4 expression in zebrafish caused laterality defects.

PMID: 22550138; Frenh 2012: Hom missense reported in a consang family with with cardiac laterality defects. 9 additional het sporadic cases reported with features of heterotaxy. p.(Ala1110Val) reported in one patient with abdominal situs inversus but variant is present in gnomAD (1007 hets and 3 hom), another missense, p.(Pro541Leu), reported in patient with midline liver and asplenia (variant is present 228x in gnomAD). Most of the variants in the sporadic cases either many hets or present in homozygosity.
Sources: Expert Review
Catecholaminergic Polymorphic Ventricular Tachycardia v0.10 RYR2 Ivan Macciocca changed review comment from: rated as definitive by ClinGen; to: rated as definitive by ClinGen 03/08/2017
Long QT Syndrome v0.7 TRDN Ivan Macciocca gene: TRDN was added
gene: TRDN was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to long QT syndrome
Phenotypes for gene: TRDN were set to PMID: 31983240; 25922419
Review for gene: TRDN was set to GREEN
gene: TRDN was marked as current diagnostic
Added comment: definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:
Evidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical
torsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate
within the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association.
Sources: Expert list
Long QT Syndrome v0.7 SNTA1 Ivan Macciocca reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 SCN5A Ivan Macciocca reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Brugada syndrome, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 SCN4B Ivan Macciocca reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 KCNQ1 Ivan Macciocca reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNJ5 Ivan Macciocca reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.7 KCNJ2 Ivan Macciocca reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Andersen-Tawil syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNE2 Ivan Macciocca edited their review of gene: KCNE2: Set current diagnostic: yes
Long QT Syndrome v0.7 KCNH2 Ivan Macciocca reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 KCNE2 Ivan Macciocca reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 28794082; Phenotypes: ; Mode of inheritance: None
Long QT Syndrome v0.7 KCNE1 Ivan Macciocca reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: long QT syndrome, acquired LQTS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT Syndrome v0.7 CAV3 Ivan Macciocca reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31983240, 17060380; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 CALM2 Ivan Macciocca gene: CALM2 was added
gene: CALM2 was added to Long QT Syndrome. Sources: Expert list
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM2 were set to PMID: 31983240
Phenotypes for gene: CALM2 were set to long QT syndrome
Penetrance for gene: CALM2 were set to unknown
Review for gene: CALM2 was set to GREEN
gene: CALM2 was marked as current diagnostic
Added comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert list
Long QT Syndrome v0.7 CALM1 Ivan Macciocca gene: CALM1 was added
gene: CALM1 was added to Long QT Syndrome. Sources: Expert Review
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM1 were set to long QT syndrome
Penetrance for gene: CALM1 were set to unknown
Review for gene: CALM1 was set to GREEN
gene: CALM1 was marked as current diagnostic
Added comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Sources: Expert Review
Long QT Syndrome v0.7 CALM3 Ivan Macciocca reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 CACNA1C Ivan Macciocca reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Timothy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT Syndrome v0.7 ANK2 Ivan Macciocca reviewed gene: ANK2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: ; Mode of inheritance: None
Long QT Syndrome v0.7 AKAP9 Ivan Macciocca reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: None
Brugada syndrome v0.13 SCN3B Ivan Macciocca reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: None
Brugada syndrome v0.13 GPD1L Ivan Macciocca reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 SCN5A Ivan Macciocca reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome v0.13 SCN1B Ivan Macciocca reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 SCN10A Ivan Macciocca reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 KCNJ8 Ivan Macciocca reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 KCNE3 Ivan Macciocca reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 CACNB2 Ivan Macciocca changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205 (PMID: 29959160); to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)
Brugada syndrome v0.13 CACNA2D1 Ivan Macciocca changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205; to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)
Brugada syndrome v0.13 CACNA1C Ivan Macciocca changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205; to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)
Brugada syndrome v0.13 KCND3 Ivan Macciocca reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 CACNB2 Ivan Macciocca reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 CACNA2D1 Ivan Macciocca reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Brugada syndrome v0.13 CACNA1C Ivan Macciocca reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None
Malformations of cortical development_Superpanel v0.85 Bryony Thompson Panel name changed from Malformations of cortical development Superpanel to Malformations of cortical development
Malformations of cortical development_Superpanel v0.84 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Malformations of cortical development_Superpanel v0.83 Bryony Thompson Changed child panels to: Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Tubulinopathies; Cobblestone Malformations; Periventricular Grey Matter Heterotopia
Malformations of cortical development_Superpanel v0.82 Bryony Thompson Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Tubulinopathies; Cobblestone Malformations; Periventricular Grey Matter Heterotopia
Microcephaly v0.125 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Microcephaly v0.125 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Marked gene: GPSM2 as ready
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Gene: gpsm2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Classified gene: GPSM2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Gene: gpsm2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.82 GPSM2 Bryony Thompson gene: GPSM2 was added
gene: GPSM2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPSM2 were set to 22578326
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome MIM#604213
Review for gene: GPSM2 was set to GREEN
Added comment: Polymicrogyria is a prominent feature of the condtion, reported in at least 10/10 families.
Sources: Expert list
Malformations of cortical development_Superpanel v0.79 Bryony Thompson Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations; Periventricular Grey Matter Heterotopia
Microcephaly v0.125 CSNK2A1 Bryony Thompson Classified gene: CSNK2A1 as Green List (high evidence)
Microcephaly v0.125 CSNK2A1 Bryony Thompson Gene: csnk2a1 has been classified as Green List (High Evidence).
Microcephaly v0.124 CSNK2A1 Bryony Thompson gene: CSNK2A1 was added
gene: CSNK2A1 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK2A1 were set to 29240241
Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome MIM#617062
Review for gene: CSNK2A1 was set to GREEN
Added comment: Microcephaly is a feature of the condition in 8/14 cases with de novo variants.
Sources: Expert list
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Marked gene: CCND2 as ready
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Gene: ccnd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Classified gene: CCND2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Gene: ccnd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.80 CCND2 Bryony Thompson gene: CCND2 was added
gene: CCND2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCND2 were set to 24705253
Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Mode of pathogenicity for gene: CCND2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CCND2 was set to GREEN
Added comment: Polymicrogyria is a prominent feature of the condition. At least 12 cases with de novo or parental mosaic missense with expected gain of function.
Sources: Expert list
Malformations of cortical development_Superpanel v0.74 Bryony Thompson Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations
Intellectual disability syndromic and non-syndromic v0.2656 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2656 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 ADAM22 Zornitza Stark Marked gene: ADAM22 as ready
Intellectual disability syndromic and non-syndromic v0.2655 ADAM22 Zornitza Stark Gene: adam22 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RAX Zornitza Stark Marked gene: RAX as ready
Intellectual disability syndromic and non-syndromic v0.2655 RAX Zornitza Stark Gene: rax has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Intellectual disability syndromic and non-syndromic v0.2655 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Mendeliome v0.2932 XIST Zornitza Stark Marked gene: XIST as ready
Mendeliome v0.2932 XIST Zornitza Stark Gene: xist has been classified as Green List (High Evidence).
Mendeliome v0.2932 XIST Zornitza Stark Phenotypes for gene: XIST were changed from to X-inactivation, familial skewed, MIM# 300087
Mendeliome v0.2931 XIST Zornitza Stark Mode of inheritance for gene: XIST was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2930 XIST Zornitza Stark reviewed gene: XIST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-inactivation, familial skewed, MIM# 300087; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2655 XIST Zornitza Stark Marked gene: XIST as ready
Intellectual disability syndromic and non-syndromic v0.2655 XIST Zornitza Stark Gene: xist has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Intellectual disability syndromic and non-syndromic v0.2655 WFS1 Zornitza Stark Gene: wfs1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2655 RBM10 Zornitza Stark Phenotypes for gene: RBM10 were changed from to TARP syndrome, 311900 (3), X-linked recessive
Intellectual disability syndromic and non-syndromic v0.2654 RBM10 Zornitza Stark Publications for gene: RBM10 were set to
Intellectual disability syndromic and non-syndromic v0.2653 RBM10 Zornitza Stark Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2930 SYNE2 Zornitza Stark Marked gene: SYNE2 as ready
Mendeliome v0.2930 SYNE2 Zornitza Stark Gene: syne2 has been classified as Red List (Low Evidence).
Mendeliome v0.2930 SYNE2 Zornitza Stark Phenotypes for gene: SYNE2 were changed from to Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999
Mendeliome v0.2929 SYNE2 Zornitza Stark Publications for gene: SYNE2 were set to
Intellectual disability syndromic and non-syndromic v0.2652 RBM10 Michelle Torres reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259342, 24000153, 30462380; Phenotypes: TARP syndrome, 311900 (3), X-linked recessive; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rhabdomyolysis and Metabolic Myopathy v0.53 YARS2 Bryony Thompson Marked gene: YARS2 as ready
Rhabdomyolysis and Metabolic Myopathy v0.53 YARS2 Bryony Thompson Gene: yars2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.53 YARS2 Bryony Thompson Classified gene: YARS2 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.53 YARS2 Bryony Thompson Gene: yars2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.52 YARS2 Bryony Thompson gene: YARS2 was added
gene: YARS2 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 28395030
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561
Review for gene: YARS2 was set to GREEN
Added comment: Exercise intolerance is a prominent presenting feature of the condition.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.51 TYMP Bryony Thompson changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. This condition has features of a visceral myopathy.; to: Cannot find any evidence that rhabdomyolysis is a feature of the condition. One case reported with exercise intolerance as a presenting feature of the condition.
Rhabdomyolysis and Metabolic Myopathy v0.51 TYMP Bryony Thompson edited their review of gene: TYMP: Changed publications: 24199812
Rhabdomyolysis and Metabolic Myopathy v0.51 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 31353864
Phenotypes for gene: TTN were set to Congenital titinopathy; exercise intolerance
Review for gene: TTN was set to RED
Added comment: Exercise intolerance only reported in two cases.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.50 TSFM Bryony Thompson edited their review of gene: TSFM: Changed rating: RED
Rhabdomyolysis and Metabolic Myopathy v0.50 TSFM Bryony Thompson edited their review of gene: TSFM: Changed rating: AMBER; Changed publications: 31267352, 17033963
Rhabdomyolysis and Metabolic Myopathy v0.50 TSEN54 Bryony Thompson edited their review of gene: TSEN54: Changed publications: 23177318; Changed phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470
Rhabdomyolysis and Metabolic Myopathy v0.50 TSEN54 Bryony Thompson changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. Hypertonia reported which is neurogenic.; to: Single case reported with recurrent rhabdomyolysis and PCH with a homozygous variant.
Rhabdomyolysis and Metabolic Myopathy v0.50 TNNT1 Bryony Thompson Marked gene: TNNT1 as ready
Rhabdomyolysis and Metabolic Myopathy v0.50 TNNT1 Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.50 TNNT1 Bryony Thompson Classified gene: TNNT1 as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v0.50 TNNT1 Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.49 TNNT1 Bryony Thompson gene: TNNT1 was added
gene: TNNT1 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNNT1 were set to 31970803
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type MIM#605355
Review for gene: TNNT1 was set to AMBER
Added comment: 4 individuals belonging to 3 apparently unrelated families of French Canadian ancestry
harbouring a novel homozygous TNNT1 (NM_003283.6:c.287T>C; p.Leu96Pro) missense with recurrent episodes of rhabdomyolysis.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.48 TAZ Bryony Thompson Classified gene: TAZ as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.48 TAZ Bryony Thompson Gene: taz has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.47 TAZ Bryony Thompson gene: TAZ was added
gene: TAZ was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 26845103
Phenotypes for gene: TAZ were set to Barth syndrome MIM#302060
Review for gene: TAZ was set to GREEN
Added comment: Exercise intolerance is a prominent feature of the condition.
Sources: Expert list
Mendeliome v0.2928 SYNE2 Bryony Thompson Classified gene: SYNE2 as Red List (low evidence)
Mendeliome v0.2928 SYNE2 Bryony Thompson Gene: syne2 has been classified as Red List (Low Evidence).
Mendeliome v0.2927 SYNE2 Bryony Thompson reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: None; Publications: 32184094, 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999; Mode of inheritance: None
Rhabdomyolysis and Metabolic Myopathy v0.46 SLC25A20 Bryony Thompson gene: SLC25A20 was added
gene: SLC25A20 was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 24088670
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138
Review for gene: SLC25A20 was set to RED
Added comment: Single case with rhabdomyolysis with biallelic variants.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.45 SLC25A4 Bryony Thompson Marked gene: SLC25A4 as ready
Rhabdomyolysis and Metabolic Myopathy v0.45 SLC25A4 Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.45 SLC25A4 Bryony Thompson Classified gene: SLC25A4 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.45 SLC25A4 Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.44 SLC25A4 Bryony Thompson gene: SLC25A4 was added
gene: SLC25A4 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 28823815
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418
Review for gene: SLC25A4 was set to GREEN
Added comment: Five unrelated cases reported with exercise intolerance as a presenting feature of the condition.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.43 SGCA Bryony Thompson Marked gene: SGCA as ready
Rhabdomyolysis and Metabolic Myopathy v0.43 SGCA Bryony Thompson Gene: sgca has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.43 SGCA Bryony Thompson Classified gene: SGCA as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.43 SGCA Bryony Thompson Gene: sgca has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.42 SGCA Bryony Thompson gene: SGCA was added
gene: SGCA was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCA were set to 27297959; 26453141; 23989969
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Review for gene: SGCA was set to GREEN
Added comment: Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.41 KCNJ11 Bryony Thompson gene: KCNJ11 was added
gene: KCNJ11 was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820
Review for gene: KCNJ11 was set to RED
Added comment: Single consanguineous family reported with congenital hyperinsulinism and rhabdomyolysis
Sources: Literature
Mendeliome v0.2927 PRKAG3 Bryony Thompson Classified gene: PRKAG3 as Amber List (moderate evidence)
Mendeliome v0.2927 PRKAG3 Bryony Thompson Gene: prkag3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2926 PRKAG3 Bryony Thompson reviewed gene: PRKAG3: Rating: AMBER; 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: 17878938, 10818001; Phenotypes: increased glycogen content in skeletal muscle; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2926 PAH Elena Savva reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria 261600, [Hyperphenylalaninemia, non-PKU mild] 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.40 HMBS Bryony Thompson Marked gene: HMBS as ready
Rhabdomyolysis and Metabolic Myopathy v0.40 HMBS Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.40 HMBS Bryony Thompson Classified gene: HMBS as Amber List (moderate evidence)
Rhabdomyolysis and Metabolic Myopathy v0.40 HMBS Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.39 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMBS were set to 25389600; 18647325
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent MIM#176000
Review for gene: HMBS was set to AMBER
Added comment: Two cases reported with rhabdomyolysis.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.38 FDX2 Bryony Thompson Marked gene: FDX2 as ready
Rhabdomyolysis and Metabolic Myopathy v0.38 FDX2 Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.38 FDX2 Bryony Thompson Classified gene: FDX2 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.38 FDX2 Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.37 FDX2 Bryony Thompson gene: FDX2 was added
gene: FDX2 was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 24281368; 30010796; 28803783
Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Review for gene: FDX2 was set to GREEN
Added comment: Three unrelated cases reported with rhabdomyolysis/myoglobinuria.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.36 DGUOK Bryony Thompson gene: DGUOK was added
gene: DGUOK was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 23043144
Phenotypes for gene: DGUOK were set to Rhabdomyolisis; lower limb weakness
Review for gene: DGUOK was set to RED
Added comment: Single case reported with rhabdomyolysis
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.35 CASQ1 Bryony Thompson Marked gene: CASQ1 as ready
Rhabdomyolysis and Metabolic Myopathy v0.35 CASQ1 Bryony Thompson Gene: casq1 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.35 CASQ1 Bryony Thompson Classified gene: CASQ1 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.35 CASQ1 Bryony Thompson Gene: casq1 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.34 CASQ1 Bryony Thompson gene: CASQ1 was added
gene: CASQ1 was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASQ1 were set to 30258016
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
Review for gene: CASQ1 was set to GREEN
Added comment: Exercise intolerance has been reported as the presenting symptom in at least 5 cases, mainly with the described founder mutation (p.Asp244Gly).
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.33 PNPLA2 Bryony Thompson Marked gene: PNPLA2 as ready
Rhabdomyolysis and Metabolic Myopathy v0.33 PNPLA2 Bryony Thompson Gene: pnpla2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.33 PNPLA2 Bryony Thompson Classified gene: PNPLA2 as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.33 PNPLA2 Bryony Thompson Gene: pnpla2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.32 PNPLA2 Bryony Thompson gene: PNPLA2 was added
gene: PNPLA2 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717
Review for gene: PNPLA2 was set to GREEN
Added comment: Three unrelated families reported with exercise intolerance as a presenting feature of the condition.
Sources: Expert list
Mendeliome v0.2926 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Mendeliome v0.2926 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Mendeliome v0.2926 ANO5 Zornitza Stark Publications for gene: ANO5 were set to
Mendeliome v0.2925 ANO5 Zornitza Stark Phenotypes for gene: ANO5 were changed from to Gnathodiaphyseal dysplasia MIM#166260; Miyoshi muscular dystrophy 3 MIM#613319; Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307
Rhabdomyolysis and Metabolic Myopathy v0.31 AMACR Bryony Thompson gene: AMACR was added
gene: AMACR was added to Rhabdomyolysis RMH. Sources: Literature
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 20921516
Phenotypes for gene: AMACR were set to rhabdomyolysis
Review for gene: AMACR was set to RED
Added comment: Single case with rahbdomyolysis reported, with a homozygous missense
Sources: Literature
Mendeliome v0.2924 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2923 CPT1B Zornitza Stark Marked gene: CPT1B as ready
Mendeliome v0.2923 CPT1B Zornitza Stark Gene: cpt1b has been classified as Red List (Low Evidence).
Mendeliome v0.2923 CPT1B Zornitza Stark Publications for gene: CPT1B were set to
Mendeliome v0.2922 CPT1B Zornitza Stark Mode of inheritance for gene: CPT1B was changed from Unknown to Unknown
Rhabdomyolysis and Metabolic Myopathy v0.30 MYH3 Bryony Thompson gene: MYH3 was added
gene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH3 were set to 28779239
Phenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis
Review for gene: MYH3 was set to RED
Added comment: Single case with rhabdomyolysis reported.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.29 TWNK Bryony Thompson Classified gene: TWNK as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.29 TWNK Bryony Thompson Gene: twnk has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.28 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TWNK were set to 20880070
Phenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Review for gene: TWNK was set to GREEN
Added comment: Exercise intolerance reported as a presenting feature of the condition in at least 5 cases.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.27 AHCY Bryony Thompson gene: AHCY was added
gene: AHCY was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 28779239
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Review for gene: AHCY was set to RED
Added comment: Single case reported with rhabdomyolysis
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.26 COQ8A Bryony Thompson Marked gene: COQ8A as ready
Rhabdomyolysis and Metabolic Myopathy v0.26 COQ8A Bryony Thompson Gene: coq8a has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.26 COQ8A Bryony Thompson Classified gene: COQ8A as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.26 COQ8A Bryony Thompson Gene: coq8a has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.25 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to 32337771
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Review for gene: COQ8A was set to GREEN
gene: COQ8A was marked as current diagnostic
Added comment: Exercise intolerance is a presenting feature in 25% of cases (out of 59 total).
Sources: Expert list
Mendeliome v0.2921 MYF6 Bryony Thompson Classified gene: MYF6 as Red List (low evidence)
Mendeliome v0.2921 MYF6 Bryony Thompson Gene: myf6 has been classified as Red List (Low Evidence).
Mendeliome v0.2920 MYF6 Bryony Thompson reviewed gene: MYF6: Rating: RED; Mode of pathogenicity: None; Publications: 11053684; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2920 MTMR14 Bryony Thompson Classified gene: MTMR14 as Red List (low evidence)
Mendeliome v0.2920 MTMR14 Bryony Thompson Added comment: Comment on list classification: No evidence of Mendelian disease
Mendeliome v0.2920 MTMR14 Bryony Thompson Gene: mtmr14 has been classified as Red List (Low Evidence).
Mendeliome v0.2919 MTMR14 Bryony Thompson reviewed gene: MTMR14: Rating: RED; Mode of pathogenicity: None; Publications: 17008356; Phenotypes: {Centronuclear myopathy, autosomal, modifier of} MIM#160150; Mode of inheritance: Unknown
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Marked gene: GMPPB as ready
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Classified gene: GMPPB as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.22 GMPPB Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.21 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 28456886; 27874200; 25681410
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria
Review for gene: GMPPB was set to GREEN
Added comment: Three unrelated cases reported with rhabdomyolysis.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.20 DNA2 Bryony Thompson gene: DNA2 was added
gene: DNA2 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNA2 were set to 31636600
Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Review for gene: DNA2 was set to RED
Added comment: Single case reported with rhabdomyolysis
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.19 Bryony Thompson removed gene:CYP2C8 from the panel
Rhabdomyolysis and Metabolic Myopathy v0.18 CYP2C8 Bryony Thompson Classified gene: CYP2C8 as No list
Rhabdomyolysis and Metabolic Myopathy v0.18 CYP2C8 Bryony Thompson Gene: cyp2c8 has been removed from the panel.
Mendeliome v0.2919 CPT1B Bryony Thompson Classified gene: CPT1B as Red List (low evidence)
Mendeliome v0.2919 CPT1B Bryony Thompson Gene: cpt1b has been classified as Red List (Low Evidence).
Mendeliome v0.2918 CPT1B Bryony Thompson reviewed gene: CPT1B: Rating: RED; Mode of pathogenicity: None; Publications: 18023382; Phenotypes: ; Mode of inheritance: Unknown
Rhabdomyolysis and Metabolic Myopathy v0.17 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 31540749
Phenotypes for gene: COL4A1 were set to Recurrent rhabdomyolysis; infections; hypertrophic cardiomyopathy.
Review for gene: COL4A1 was set to RED
Added comment: Single case reported with rhabdomyolysis
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.16 CHKB Bryony Thompson Marked gene: CHKB as ready
Rhabdomyolysis and Metabolic Myopathy v0.16 CHKB Bryony Thompson Gene: chkb has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.16 CHKB Bryony Thompson gene: CHKB was added
gene: CHKB was added to Rhabdomyolysis RMH. Sources: Expert list
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 26782016
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type MIM#602541
Review for gene: CHKB was set to RED
Added comment: Single family reported with rhbdomyolysis
Sources: Expert list
Mendeliome v0.2918 ANO5 Bryony Thompson reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260, Miyoshi muscular dystrophy 3 MIM#613319, Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.31 SEC63 Zornitza Stark edited their review of gene: SEC63: Changed rating: RED
Renal Macrocystic Disease v0.31 PRKCSH Zornitza Stark Classified gene: PRKCSH as Amber List (moderate evidence)
Renal Macrocystic Disease v0.31 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.30 PRKCSH Zornitza Stark edited their review of gene: PRKCSH: Changed rating: AMBER
Renal Macrocystic Disease v0.30 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Renal Macrocystic Disease v0.30 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.30 ALG9 Zornitza Stark Classified gene: ALG9 as Amber List (moderate evidence)
Renal Macrocystic Disease v0.30 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.29 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Renal Macrocystic Disease. Sources: Literature
Mode of inheritance for gene: ALG9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 31395617
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM# 608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease
Review for gene: ALG9 was set to AMBER
Added comment: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder.
Sources: Literature
Renal Macrocystic Disease v0.28 PRKCSH Zornitza Stark changed review comment from: Well established gene-disease relationship, >50 reported families.; to: Well established gene-disease relationship, >50 reported families. Liver cystic disease predominates the clinical presentation, generally a small number of kidney cysts.
Renal Macrocystic Disease v0.28 PRKCSH Zornitza Stark Phenotypes for gene: PRKCSH were changed from Polycystic liver disease 1, MIM# 174050, with or without kidney cysts to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts
Renal Macrocystic Disease v0.28 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Renal Macrocystic Disease v0.28 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.28 PRKCSH Zornitza Stark Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts
Renal Macrocystic Disease v0.27 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to
Renal Macrocystic Disease v0.26 PRKCSH Zornitza Stark Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.25 PRKCSH Zornitza Stark reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577059; Phenotypes: Polycystic liver disease 1, MIM# 174050, with or without kidney cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2918 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Mendeliome v0.2918 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Mendeliome v0.2918 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Mendeliome v0.2917 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to
Mendeliome v0.2916 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2915 DNAJB11 Zornitza Stark reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Polymicrogyria and Schizencephaly v0.78 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Polymicrogyria and Schizencephaly v0.77 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Polymicrogyria and Schizencephaly v0.75 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Polymicrogyria and Schizencephaly v0.74 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 PTEN Zornitza Stark Marked gene: PTEN as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.9 PTEN Zornitza Stark Publications for gene: PTEN were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.8 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.28 ANO5 Zornitza Stark Publications for gene: ANO5 were set to
Skeletal dysplasia v0.27 ANO5 Zornitza Stark Mode of pathogenicity for gene: ANO5 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 v0.26 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.26 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.25 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.25 ANO5 Zornitza Stark Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2915 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Mendeliome v0.2915 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Mendeliome v0.2915 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from to congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500
Mendeliome v0.2914 GPR143 Zornitza Stark Publications for gene: GPR143 were set to
Mendeliome v0.2913 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cancer Predisposition_Paediatric v0.12 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Cancer Predisposition_Paediatric v0.12 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Mendeliome v0.2912 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Mendeliome v0.2912 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Mendeliome v0.2912 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from to Dysautonomia, familial MIM#223900; paediatric medulloblastoma
Mendeliome v0.2911 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Mendeliome v0.2910 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB3GAP2 Lauren Akesson reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB3GAP1 Lauren Akesson reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520; Phenotypes: Warburg micro syndrome 1 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB18 Lauren Akesson reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21473985, 23420520; Phenotypes: Warburg micro syndrome 3 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 PTEN Lauren Akesson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32162846; Phenotypes: Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Macrocephaly/autism syndrome 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.24 ANO5 Bryony Thompson reviewed gene: ANO5: 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: 28176803, 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2909 GPR143 Teresa Zhao reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: congenital nystagmus 6, MIM 300814, ty[e I ocular albinism, Nettleship-Falls type, MIM 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cancer Predisposition_Paediatric v0.12 ELP1 Bryony Thompson Classified gene: ELP1 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.12 ELP1 Bryony Thompson Gene: elp1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.11 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Cancer Predisposition_Paediatric. Sources: Literature
Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP1 were set to 32296180
Phenotypes for gene: ELP1 were set to Paediatric medulloblastoma sonic hedgehog subtype
Review for gene: ELP1 was set to GREEN
Added comment: Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another.
Sources: Literature
Mendeliome v0.2909 ELP1 Bryony Thompson reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 32296180; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2909 SNRNP200 Zornitza Stark Marked gene: SNRNP200 as ready
Mendeliome v0.2909 SNRNP200 Zornitza Stark Gene: snrnp200 has been classified as Green List (High Evidence).
Mendeliome v0.2909 SNRNP200 Zornitza Stark Phenotypes for gene: SNRNP200 were changed from to Retinitis pigmentosa 33 (MIM# 610359)
Mendeliome v0.2908 SNRNP200 Zornitza Stark Publications for gene: SNRNP200 were set to
Mendeliome v0.2907 SNRNP200 Zornitza Stark Mode of inheritance for gene: SNRNP200 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.75 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Heterotaxy v0.75 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.75 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to
Heterotaxy v0.74 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)
Heterotaxy v0.73 PKD1L1 Zornitza Stark Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.72 PKD1L1 Zornitza Stark Classified gene: PKD1L1 as Amber List (moderate evidence)
Heterotaxy v0.72 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.71 RPGR Zornitza Stark Marked gene: RPGR as ready
Heterotaxy v0.71 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Heterotaxy v0.71 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Heterotaxy v0.70 RPGR Zornitza Stark Publications for gene: RPGR were set to
Heterotaxy v0.69 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Heterotaxy v0.68 RPGR Zornitza Stark Classified gene: RPGR as Red List (low evidence)
Heterotaxy v0.68 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Heterotaxy v0.67 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Heterotaxy v0.67 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Red List (Low Evidence).
Heterotaxy v0.67 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Heterotaxy v0.66 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Heterotaxy v0.65 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.64 RSPH1 Zornitza Stark Classified gene: RSPH1 as Red List (low evidence)
Heterotaxy v0.64 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Ciliary Dyskinesia v0.102 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Ciliary Dyskinesia v0.101 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.63 RSPH3 Zornitza Stark Marked gene: RSPH3 as ready
Heterotaxy v0.63 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Red List (Low Evidence).
Heterotaxy v0.63 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 (MIM#616481)
Heterotaxy v0.62 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to
Heterotaxy v0.61 RSPH3 Zornitza Stark Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.60 RSPH3 Zornitza Stark Classified gene: RSPH3 as Red List (low evidence)
Heterotaxy v0.60 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Red List (Low Evidence).
Heterotaxy v0.59 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Heterotaxy v0.59 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Heterotaxy v0.59 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)
Heterotaxy v0.58 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Heterotaxy v0.57 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.56 RSPH4A Zornitza Stark Classified gene: RSPH4A as Red List (low evidence)
Heterotaxy v0.56 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Heterotaxy v0.55 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Heterotaxy v0.55 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Heterotaxy v0.55 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)
Heterotaxy v0.54 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Heterotaxy v0.53 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.52 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
Heterotaxy v0.52 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.24 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Skeletal dysplasia v0.24 RUNX2 Zornitza Stark Gene: runx2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Skeletal dysplasia v0.24 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Skeletal dysplasia v0.24 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Skeletal dysplasia v0.24 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.24 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Skeletal dysplasia v0.24 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Mendeliome v0.2906 SNRNP200 Ain Roesley changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)

PMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling

PMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)

PMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister

PMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)

PMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling

PMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)

PMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister

PMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo
Mendeliome v0.2906 SNRNP200 Ain Roesley changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)

PMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling

PMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)

PMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister

PMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)

PMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling

PMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA)

PMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister

PMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo
Mendeliome v0.2906 SNRNP200 Ain Roesley reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31260034, 29320387, 23847139, 27735924; Phenotypes: Retinitis pigmentosa 33 (MIM# 610359); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.51 PKD1L1 Crystle Lee reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RPGR Crystle Lee reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: 26093275, 31775781; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Heterotaxy v0.51 RSPH1 Crystle Lee reviewed gene: RSPH1: Rating: RED; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.100 RSPH1 Crystle Lee reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RSPH3 Crystle Lee reviewed gene: RSPH3: Rating: RED; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 RSPH4A Crystle Lee reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: 25789548; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brugada syndrome v0.13 SCN3B Zornitza Stark Phenotypes for gene: SCN3B were changed from Brugada syndrome 7 MIM#613120 to Brugada syndrome 7 MIM#613120
Brugada syndrome v0.13 SCN3B Zornitza Stark Marked gene: SCN3B as ready
Brugada syndrome v0.13 SCN3B Zornitza Stark Gene: scn3b has been classified as Red List (Low Evidence).
Brugada syndrome v0.13 SCN3B Zornitza Stark Phenotypes for gene: SCN3B were changed from to Brugada syndrome 7 MIM#613120
Brugada syndrome v0.12 SCN3B Zornitza Stark Mode of inheritance for gene: SCN3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.11 SCN3B Zornitza Stark Classified gene: SCN3B as Red List (low evidence)
Brugada syndrome v0.11 SCN3B Zornitza Stark Gene: scn3b has been classified as Red List (Low Evidence).
Brugada syndrome v0.10 SCN3B Zornitza Stark Tag disputed tag was added to gene: SCN3B.
Heterotaxy v0.51 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: 19200523; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.24 RUNX2 Tiong Tan Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.24 MMP9 Tiong Tan Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 28342220; 19615667 to 28342220; 19615667
Skeletal dysplasia v0.24 MMP13 Tiong Tan Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.24 SRP54 Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54
Skeletal dysplasia v0.24 DNAJC21 Tiong Tan Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21
Skeletal dysplasia v0.24 EFL1 Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1
Skeletal dysplasia v0.24 SBDS Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.24 POLR1D Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.24 COL10A1 Tiong Tan Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v0.24 RUNX2 Tiong Tan Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.24 MMP9 Tiong Tan Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 19615667; 28342220 to 28342220; 19615667
Skeletal dysplasia v0.24 MMP13 Tiong Tan Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.24 SRP54 Tiong Tan Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54
Skeletal dysplasia v0.24 DNAJC21 Tiong Tan Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21
Skeletal dysplasia v0.24 EFL1 Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1
Skeletal dysplasia v0.24 SBDS Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.24 RMRP Tiong Tan Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.24 POLR1D Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.24 COL10A1 Tiong Tan Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v0.23 RUNX2 Tiong Tan Source Victorian Clinical Genetics Services was added to RUNX2.
Added phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v0.23 MMP9 Tiong Tan Source Victorian Clinical Genetics Services was added to MMP9.
Source Expert Review Green was added to MMP9.
Mode of inheritance for gene MMP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9
Publications for gene MMP9 were updated from 28342220; 19615667 to 19615667; 28342220
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v0.23 MMP13 Tiong Tan Source Victorian Clinical Genetics Services was added to MMP13.
Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Skeletal dysplasia v0.23 SRP54 Tiong Tan gene: SRP54 was added
gene: SRP54 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRP54 were set to 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
Skeletal dysplasia v0.23 DNAJC21 Tiong Tan gene: DNAJC21 was added
gene: DNAJC21 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3
Skeletal dysplasia v0.23 EFL1 Tiong Tan gene: EFL1 was added
gene: EFL1 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFL1 were set to 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2
Skeletal dysplasia v0.23 SBDS Tiong Tan Source Victorian Clinical Genetics Services was added to SBDS.
Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v0.23 PTH1R Tiong Tan Source Victorian Clinical Genetics Services was added to PTH1R.
Added phenotypes Metaphyseal chondrodysplasia, Murk Jansen type 156400; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.23 RMRP Tiong Tan Source Victorian Clinical Genetics Services was added to RMRP.
Added phenotypes Metaphyseal dysplasia without hypotrichosis 250460; Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095 for gene: RMRP
Skeletal dysplasia v0.23 POLR1D Tiong Tan Source Victorian Clinical Genetics Services was added to POLR1D.
Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v0.23 COL10A1 Tiong Tan Source Victorian Clinical Genetics Services was added to COL10A1.
Mode of inheritance for gene COL10A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Intellectual disability syndromic and non-syndromic v0.2652 MADD Zornitza Stark Marked gene: MADD as ready
Intellectual disability syndromic and non-syndromic v0.2652 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2652 MADD Zornitza Stark Phenotypes for gene: MADD were changed from to intellectual disability
Intellectual disability syndromic and non-syndromic v0.2651 MADD Zornitza Stark Publications for gene: MADD were set to
Intellectual disability syndromic and non-syndromic v0.2650 MADD Zornitza Stark Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.79 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Ichthyosis and Porokeratosis v0.79 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.79 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Ichthyosis and Porokeratosis v0.78 ALOXE3 Zornitza Stark Publications for gene: ALOXE3 were set to
Ichthyosis and Porokeratosis v0.77 ALOXE3 Zornitza Stark Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.76 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2906 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Mendeliome v0.2906 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Green List (High Evidence).
Mendeliome v0.2906 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from to Ichthyosis, congenital, autosomal recessive 3, MIM#606545
Mendeliome v0.2905 ALOXE3 Zornitza Stark Publications for gene: ALOXE3 were set to
Mendeliome v0.2904 ALOXE3 Zornitza Stark Mode of inheritance for gene: ALOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2903 ARMC1 Zornitza Stark Marked gene: ARMC1 as ready
Mendeliome v0.2903 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Mendeliome v0.2903 ARMC1 Zornitza Stark Classified gene: ARMC1 as Red List (low evidence)
Mendeliome v0.2903 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Mendeliome v0.2902 ARMC1 Zornitza Stark reviewed gene: ARMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.144 ARMC1 Zornitza Stark Marked gene: ARMC1 as ready
Callosome v0.144 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Callosome v0.144 ARMC1 Zornitza Stark Classified gene: ARMC1 as Red List (low evidence)
Callosome v0.144 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Callosome v0.143 ARMC1 Zornitza Stark reviewed gene: ARMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2902 ALOXE3 Chern Lim reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM#606545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic Atrophy v0.108 YME1L1 Zornitza Stark Marked gene: YME1L1 as ready
Optic Atrophy v0.108 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Red List (Low Evidence).
Achromatopsia v0.17 PDE6H Bryony Thompson Classified gene: PDE6H as Green List (high evidence)
Achromatopsia v0.17 PDE6H Bryony Thompson Gene: pde6h has been classified as Green List (High Evidence).
Achromatopsia v0.16 PDE6H Bryony Thompson gene: PDE6H was added
gene: PDE6H was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: PDE6H was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024
Achromatopsia v0.15 PDE6C Bryony Thompson Classified gene: PDE6C as Green List (high evidence)
Achromatopsia v0.15 PDE6C Bryony Thompson Gene: pde6c has been classified as Green List (High Evidence).
Achromatopsia v0.14 PDE6C Bryony Thompson gene: PDE6C was added
gene: PDE6C was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Achromatopsia-5
Achromatopsia v0.13 CNGB3 Bryony Thompson Classified gene: CNGB3 as Green List (high evidence)
Achromatopsia v0.13 CNGB3 Bryony Thompson Gene: cngb3 has been classified as Green List (High Evidence).
Achromatopsia v0.12 CNGB3 Bryony Thompson gene: CNGB3 was added
gene: CNGB3 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300
Achromatopsia v0.11 CNGA3 Bryony Thompson Classified gene: CNGA3 as Green List (high evidence)
Achromatopsia v0.11 CNGA3 Bryony Thompson Gene: cnga3 has been classified as Green List (High Evidence).
Achromatopsia v0.10 CNGA3 Bryony Thompson gene: CNGA3 was added
gene: CNGA3 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900
Macular Dystrophy/Stargardt Disease v0.13 Bryony Thompson removed gene:ZFYVE26 from the panel
Retinitis pigmentosa v0.54 Bryony Thompson removed gene:ZFYVE26 from the panel
Syndromic Retinopathy v0.68 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Green List (high evidence)
Syndromic Retinopathy v0.68 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.67 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 31385551; 18394578; 14409555
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700
Optic Atrophy v0.108 YME1L1 Bryony Thompson gene: YME1L1 was added
gene: YME1L1 was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302
Review for gene: YME1L1 was set to RED
Added comment: Single family reported with optic atrophy
Sources: Expert list
Mendeliome v0.2902 STK36 Zornitza Stark Marked gene: STK36 as ready
Mendeliome v0.2902 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Mendeliome v0.2902 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from to Primary ciliary dyskinesia
Mendeliome v0.2901 STK36 Zornitza Stark Publications for gene: STK36 were set to
Mendeliome v0.2900 STK36 Zornitza Stark Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2899 STK36 Zornitza Stark Classified gene: STK36 as Red List (low evidence)
Mendeliome v0.2899 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Mendeliome v0.2898 STK36 Zornitza Stark reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: 28543983; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.51 STK36 Zornitza Stark Marked gene: STK36 as ready
Heterotaxy v0.51 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Heterotaxy v0.51 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from to Primary ciliary dyskinesia
Heterotaxy v0.50 STK36 Zornitza Stark Publications for gene: STK36 were set to
Heterotaxy v0.49 STK36 Zornitza Stark Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.48 STK36 Zornitza Stark Classified gene: STK36 as Red List (low evidence)
Heterotaxy v0.48 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Heterotaxy v0.47 STK36 Zornitza Stark reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: 28543983; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark Marked gene: STK36 as ready
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark gene: STK36 was added
gene: STK36 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: STK36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK36 were set to 28543983
Phenotypes for gene: STK36 were set to Primary ciliary dyskinesia
Review for gene: STK36 was set to RED
Added comment: Single individual reported with homozygous LoF variant, PCD and situs solitus. Some functional data.
Sources: Expert list
Retinitis pigmentosa v0.53 Bryony Thompson removed gene:USH1C from the panel
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Marked gene: RPGR as ready
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Ciliary Dyskinesia v0.97 RPGR Zornitza Stark Publications for gene: RPGR were set to
Ciliary Dyskinesia v0.96 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.95 RPGR Zornitza Stark reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.95 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Green List (high evidence)
Ciliary Dyskinesia v0.95 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.94 GAS2L2 Zornitza Stark Deleted their comment
Ciliary Dyskinesia v0.94 GAS2L2 Zornitza Stark edited their review of gene: GAS2L2: Added comment: Two families and functional evidence.; Changed rating: GREEN; Changed publications: 30665704; Changed phenotypes: Ciliary dyskinesia, primary, 41 (MIM # 618449); Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.94 DNAH8 Zornitza Stark Classified gene: DNAH8 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.94 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Marked gene: DNAH8 as ready
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from to Asthenozoospermia; primary ciliary dyskinesia
Ciliary Dyskinesia v0.92 DNAH8 Zornitza Stark Publications for gene: DNAH8 were set to
Ciliary Dyskinesia v0.91 DNAH8 Zornitza Stark Mode of inheritance for gene: DNAH8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.47 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Heterotaxy v0.47 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Heterotaxy v0.47 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Heterotaxy v0.47 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but overlapping clinical features.
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Classified gene: NFKB1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but can have overlapping presenting features.
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Classified gene: NFKB2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2898 NME8 Zornitza Stark Marked gene: NME8 as ready
Mendeliome v0.2898 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Mendeliome v0.2898 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Mendeliome v0.2897 NME8 Zornitza Stark Publications for gene: NME8 were set to
Mendeliome v0.2896 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2895 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Mendeliome v0.2895 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Heterotaxy v0.46 NME8 Zornitza Stark Marked gene: NME8 as ready
Heterotaxy v0.46 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Heterotaxy v0.46 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Heterotaxy v0.45 NME8 Zornitza Stark Publications for gene: NME8 were set to
Heterotaxy v0.44 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.43 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Heterotaxy v0.43 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Marked gene: NME8 as ready
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Ciliary Dyskinesia v0.87 NME8 Zornitza Stark Publications for gene: NME8 were set to
Ciliary Dyskinesia v0.86 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.85 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Ciliary Dyskinesia v0.85 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Marked gene: TMEM231 as ready
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Classified gene: TMEM231 as Green List (high evidence)
Syndromic Retinopathy v0.66 TMEM231 Bryony Thompson Gene: tmem231 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.65 TMEM231 Bryony Thompson gene: TMEM231 was added
gene: TMEM231 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 27449316
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 MIM#614970
Review for gene: TMEM231 was set to GREEN
Added comment: Three unrelated families reported with retinopathy as a feature of the condition.
Sources: Expert list
Mendeliome v0.2894 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Mendeliome v0.2894 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Mendeliome v0.2894 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM 113620
Mendeliome v0.2893 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Mendeliome v0.2892 TFAP2A Zornitza Stark Mode of pathogenicity for gene: TFAP2A was changed from to Other
Mendeliome v0.2891 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Added comment: Comment when marking as ready: Include as overlapping phenotype.
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Classified gene: PIK3CD as Amber List (moderate evidence)
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Added comment: Comment when marking as ready: Can cause bronchiectasis with limited immunological findings, include as an overlapping phenotype on this panel.
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.82 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence)
Ciliary Dyskinesia v0.82 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Cholestasis v0.24 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Cholestasis v0.24 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Cholestasis v0.24 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Cholestasis v0.23 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Cholestasis v0.22 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.42 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Heterotaxy v0.42 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Heterotaxy v0.42 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Heterotaxy v0.42 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Mode of inheritance for gene: DNAH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.80 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.80 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.79 DNAH6 Zornitza Stark reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26918822; Phenotypes: Heterotaxy, male infertility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Marked gene: TMEM107 as ready
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Classified gene: TMEM107 as Amber List (moderate evidence)
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.63 TMEM107 Bryony Thompson gene: TMEM107 was added
gene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26595381
Phenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563
Review for gene: TMEM107 was set to AMBER
Added comment: A set of twins and an unrelated case reported with retinopathy as a feature of the condition.
Sources: Expert list
Pierre Robin Sequence v0.8 BMPR1B Zornitza Stark Classified gene: BMPR1B as Amber List (moderate evidence)
Pierre Robin Sequence v0.8 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Marked gene: CFTR as ready
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Disseminated bronchiectasis to Cystic fibrosis; bronchiectasis
Ciliary Dyskinesia v0.78 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Ciliary Dyskinesia v0.78 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Cholestasis v0.21 VIPAS39 Chern Lim changed review comment from: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.; to: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants or start-loss variant. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Marked gene: CFAP54 as ready
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Classified gene: CFAP54 as Red List (low evidence)
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Cholestasis v0.21 VIPAS39 Chern Lim reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Heterotaxy v0.41 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Heterotaxy v0.41 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Heterotaxy v0.41 CFAP53 Zornitza Stark Classified gene: CFAP53 as Green List (high evidence)
Heterotaxy v0.41 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854
Polymicrogyria and Schizencephaly v0.72 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Polymicrogyria and Schizencephaly v0.71 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Marked gene: SRD5A3 as ready
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Classified gene: SRD5A3 as Green List (high evidence)
Syndromic Retinopathy v0.62 SRD5A3 Bryony Thompson Gene: srd5a3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.61 SRD5A3 Bryony Thompson gene: SRD5A3 was added
gene: SRD5A3 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 31638560
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq MIM#612379
Review for gene: SRD5A3 was set to GREEN
Added comment: Retinopathy is a reported feature of the condition in >3 cases.
Sources: Expert list
Retinitis pigmentosa v0.52 SCLT1 Bryony Thompson gene: SCLT1 was added
gene: SCLT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 30425282
Phenotypes for gene: SCLT1 were set to Nonsyndromic retinitis pigmentosa
Review for gene: SCLT1 was set to RED
Added comment: One family reported with nonsyndromic RP.
Sources: Literature
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Marked gene: SCLT1 as ready
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Gene: sclt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Classified gene: SCLT1 as Green List (high evidence)
Syndromic Retinopathy v0.60 SCLT1 Bryony Thompson Gene: sclt1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.70 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.59 SCLT1 Bryony Thompson gene: SCLT1 was added
gene: SCLT1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 32253632; 30425282
Phenotypes for gene: SCLT1 were set to Bardet Biedl syndrome; Senior-Loken syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: Three unrelated cases reported with retinal dystrophy as a feature of the condition (2 with BBS and 1 with SLS).
Sources: Expert list
Retinitis pigmentosa v0.51 SCAPER Bryony Thompson Classified gene: SCAPER as Red List (low evidence)
Retinitis pigmentosa v0.51 SCAPER Bryony Thompson Added comment: Comment on list classification: Gene is on the syndromic retinopathy panel
Retinitis pigmentosa v0.51 SCAPER Bryony Thompson Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.50 SCAPER Bryony Thompson Classified gene: SCAPER as Red List (low evidence)
Retinitis pigmentosa v0.50 SCAPER Bryony Thompson Gene: scaper has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.49 SCAPER Bryony Thompson reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: None; Publications: 30561111; Phenotypes: Nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.58 SCAPER Bryony Thompson Deleted their review
Retinitis pigmentosa v0.49 SCAPER Bryony Thompson Deleted their review
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Marked gene: SCAPER as ready
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Classified gene: SCAPER as Green List (high evidence)
Syndromic Retinopathy v0.57 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.56 SCAPER Bryony Thompson gene: SCAPER was added
gene: SCAPER was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Syndromic Retinopathy v0.55 PISD Bryony Thompson gene: PISD was added
gene: PISD was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 31263216
Phenotypes for gene: PISD were set to Liberfarb syndrome MIM#618889
Review for gene: PISD was set to RED
Added comment: Retinal degeneration is reported in two families with the same homozygous variant and an apparently common ancestor, based on haplotype analysis.
Sources: Expert list
Ciliary Dyskinesia v0.76 PIK3R1 Elena Savva gene: PIK3R1 was added
gene: PIK3R1 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to PMID: 30018075; 31111319
Phenotypes for gene: PIK3R1 were set to ?Agammaglobulinemia 7, autosomal recessive 615214; Immunodeficiency 36 616005; SHORT syndrome 269880
Mode of pathogenicity for gene: PIK3R1 was set to Other
Review for gene: PIK3R1 was set to AMBER
Added comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway

PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature

No other phenotypes reports reminiscent of PCD
Sources: Expert list
Ciliary Dyskinesia v0.76 PIK3CD Elena Savva gene: PIK3CD was added
gene: PIK3CD was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CD were set to PMID: 30018075; 31111319
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14 615513
Mode of pathogenicity for gene: PIK3CD was set to Other
Review for gene: PIK3CD was set to AMBER
Added comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway

PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature

No other phenotypes reports reminiscent of PCD
Sources: Expert list
Mendeliome v0.2890 TFAP2A Teresa Zhao reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23578821, 21204207, 21728810, 21539471; Phenotypes: Branchiooculofacial syndrome, MIM 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2890 NME8 Elena Savva reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.40 NME8 Elena Savva reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648, 31966386; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.76 NME8 Elena Savva reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal Disorders Superpanel v0.127 Bryony Thompson Changed child panels to: Optic Atrophy; Syndromic Retinopathy; Autosomal Recessive/X-Linked Retinitis Pigmentosa; Bardet Biedl syndrome; Cone-rod Dystrophy; Macular Dystrophy/Stargardt Disease; Autosomal Dominant Retinitis Pigmentosa; Vitreoretinopathy; Achromatopsia; Usher Syndrome; Foveal Hypoplasia; Stickler Syndrome; Congenital Stationary Night Blindness
Ciliary Dyskinesia v0.76 NFKB2 Elena Savva gene: NFKB2 was added
gene: NFKB2 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFKB2 were set to PMID: 30941118
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577
Review for gene: NFKB2 was set to AMBER
Added comment: PMID: 30941118 - reports 11 unrelated families (15 patients), four families carry the recurring nonsense p.Arg853* mutation. Many patients report recurrent upper and lower respiratory infections (>80%), less commonly bronchiectasis (57%)

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Ciliary Dyskinesia v0.76 NFKB1 Elena Savva gene: NFKB1 was added
gene: NFKB1 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFKB1 were set to PMID: 32278790
Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 616576
Review for gene: NFKB1 was set to AMBER
Added comment: PMID: 32278790 - review of >150 patients with heterozygous mutations found ~25% had bronchiectasis, and 83% had upper respiratory infections. Incomplete penetrance (70%) with age dependent severity well reported.

OMIM describes haploinsufficiency

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Heterotaxy v0.40 FOXJ1 Elena Savva Deleted their comment
Heterotaxy v0.40 FOXJ1 Elena Savva edited their review of gene: FOXJ1: Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity; Changed mode of pathogenicity: Other
Heterotaxy v0.40 FOXJ1 Elena Savva gene: FOXJ1 was added
gene: FOXJ1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXJ1 were set to PMID 31630787
Phenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity
Sources: Literature
Ciliary Dyskinesia v0.76 DNAH8 Elena Savva reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31178125, 24307375; Phenotypes: Asthenozoospermia, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Marked gene: PEX26 as ready
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Gene: pex26 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Classified gene: PEX26 as Amber List (moderate evidence)
Syndromic Retinopathy v0.54 PEX26 Bryony Thompson Gene: pex26 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.53 PEX26 Bryony Thompson gene: PEX26 was added
gene: PEX26 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 28944237
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Peroxisome biogenesis disorder 7B MIM#614873
Review for gene: PEX26 was set to AMBER
Added comment: Two cases reported with retinitis pigmentosa as a feature of the condition.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Zornitza Stark Marked gene: ARL3 as ready
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Heterotaxy v0.40 DNAH6 Elena Savva gene: DNAH6 was added
gene: DNAH6 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH6 were set to PMID: 26918822
Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.
Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

Summary: 1 convincing patient with animal model
Sources: Literature
Ciliary Dyskinesia v0.76 DNAH6 Elena Savva gene: DNAH6 was added
gene: DNAH6 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: DNAH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAH6 were set to PMID: 26918822; 28206990; 31676830; 29356036
Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.
Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

PMID: 28206990 - 1 homozygous family (2 siblings) with azoospermia. Authors note no recurrent respiratory infections

PMID: 31676830 - 2 chet unrelated families with spermatogenesis defects, and specifically noted to have no PCD manifestations. Phenotypes included sperm flagella defects. Patients carried missense and frameshift mutations.

PMID: 29356036 - 1 chet patient (missense) with globozoospermia and acephalic spermatozoa. Functional analysis showed near null gene expression.

Summary: Multiple patients + animal model with some features of PCD but nothing convincing
Sources: Expert list
Retinitis pigmentosa v0.49 Bryony Thompson removed gene:PHYH from the panel
Retinitis pigmentosa v0.47 Bryony Thompson removed gene:PEX7 from the panel
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan Marked gene: BMPR1B as ready
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan Gene: bmpr1b has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.7 BMPR1B Tiong Tan gene: BMPR1B was added
gene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 28418932
Phenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis
Penetrance for gene: BMPR1B were set to unknown
Review for gene: BMPR1B was set to AMBER
Added comment: Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant. Both genomic lesions segregated with the PRS phenotype in both families.
Sources: Literature
Ciliary Dyskinesia v0.76 CFTR Elena Savva gene: CFTR was added
gene: CFTR was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Disseminated bronchiectasis
Review for gene: CFTR was set to GREEN
Added comment: CFTR-related disease features recurrent bronchial infection.

GREEN
Sources: Expert list
Vitreoretinopathy v0.9 P3H2 Bryony Thompson Classified gene: P3H2 as Green List (high evidence)
Vitreoretinopathy v0.9 P3H2 Bryony Thompson Gene: p3h2 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.8 P3H2 Bryony Thompson gene: P3H2 was added
gene: P3H2 was added to Vitreoretinopathy. Sources: Expert list
Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H2 were set to 21885030; 24172257; 25469533
Phenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration MIM#614292
Review for gene: P3H2 was set to GREEN
Added comment: At least 3 unrelated consanguineous families reported with vitreoretinal degeneration as a feature of the condition.
Sources: Expert list
Ciliary Dyskinesia v0.76 CFAP57 Elena Savva reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21574244; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Marked gene: MMACHC as ready
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Syndromic Retinopathy v0.52 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.51 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 28481040
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: Maculopathy/pigmentary retinopathy reported as a feature of the condition in at least 9 cases.
Sources: Expert list
Ciliary Dyskinesia v0.76 CFAP54 Elena Savva gene: CFAP54 was added
gene: CFAP54 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP54 were set to PMID: 26224312
Phenotypes for gene: CFAP54 were set to Hydrocephalus, male infertility, mucus accumulation
Review for gene: CFAP54 was set to RED
Added comment: PMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs

No patients reported as of yet
Sources: Literature
Retinitis pigmentosa v0.46 MVK Bryony Thompson Classified gene: MVK as Amber List (moderate evidence)
Retinitis pigmentosa v0.46 MVK Bryony Thompson Gene: mvk has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.45 MVK Bryony Thompson reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: None
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Marked gene: LRP2 as ready
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Gene: lrp2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Classified gene: LRP2 as Green List (high evidence)
Syndromic Retinopathy v0.50 LRP2 Bryony Thompson Gene: lrp2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.49 LRP2 Bryony Thompson gene: LRP2 was added
gene: LRP2 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: At least 3 families reported with retinopathy as a feature of the condition.
Sources: Expert list
Heterotaxy v0.40 CFAP53 Elena Savva gene: CFAP53 was added
gene: CFAP53 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779
Review for gene: CFAP53 was set to GREEN
Added comment: aka CCDC11

PMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues

PMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.

PMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype.

Summary: 2 patients described with situs invertus/heterotaxy + animal models
Sources: Literature
Retinitis pigmentosa v0.45 KCNJ13 Bryony Thompson Marked gene: KCNJ13 as ready
Retinitis pigmentosa v0.45 KCNJ13 Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.45 KCNJ13 Bryony Thompson Classified gene: KCNJ13 as Green List (high evidence)
Retinitis pigmentosa v0.45 KCNJ13 Bryony Thompson Gene: kcnj13 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.44 KCNJ13 Bryony Thompson gene: KCNJ13 was added
gene: KCNJ13 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: KCNJ13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ13 were set to 25921210; 21763485
Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16 MIM#614186
Review for gene: KCNJ13 was set to GREEN
Added comment: At least 3 families reported with homozygous variants and shRNA lentiviral mouse assays that recapitulate LCA phenotype.
Sources: Expert list
Syndromic Retinopathy v0.48 Bryony Thompson removed gene:KCNJ13 from the panel
Retinitis pigmentosa v0.43 Bryony Thompson removed gene:EXOSC2 from the panel
Syndromic Retinopathy v0.46 Bryony Thompson removed gene:COL9A1 from the panel
Retinitis pigmentosa v0.42 CLN3 Bryony Thompson reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32441891, 30446867, 24154662; Phenotypes: nonsyndromic retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.13 Bryony Thompson removed gene:CEP78 from the panel
Retinitis pigmentosa v0.42 ARL6 Bryony Thompson Classified gene: ARL6 as Amber List (moderate evidence)
Retinitis pigmentosa v0.42 ARL6 Bryony Thompson Gene: arl6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.41 ARL6 Bryony Thompson reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: None; Publications: 28130426, 19956407; Phenotypes: Retinitis pigmentosa 55 MIM#613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.185 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Ciliopathies v0.185 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Ciliopathies v0.184 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.79 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.78 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Literature
Mendeliome v0.2890 ARL3 Bryony Thompson Marked gene: ARL3 as ready
Mendeliome v0.2890 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Mendeliome v0.2890 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Mendeliome v0.2890 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Mendeliome v0.2889 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502; 26964041; 30932721
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161; Retinitis pigmentosa 83 MIM#618173
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Two unrelated families with retinitis pigmentosa segregating the same heterozygous missense variant (Y90C).
Sources: Expert list
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Marked gene: ARL3 as ready
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Syndromic Retinopathy v0.45 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.44 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Expert list
Retinitis pigmentosa v0.41 Bryony Thompson removed gene:ARL3 from the panel
Retinitis pigmentosa v0.40 AHI1 Bryony Thompson Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to nonsyndromic retinitis pigmentosa; Joubert syndrome 17
Retinitis pigmentosa v0.39 AHI1 Bryony Thompson Publications for gene: AHI1 were set to
Retinitis pigmentosa v0.38 ABHD12 Bryony Thompson Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to nonsyndromic retinitis pigmentosa; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Retinitis pigmentosa v0.37 ABHD12 Bryony Thompson Publications for gene: ABHD12 were set to
Syndromic Retinopathy v0.43 DTHD1 Bryony Thompson gene: DTHD1 was added
gene: DTHD1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: DTHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTHD1 were set to 23105016
Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with muscle dystrophy
Review for gene: DTHD1 was set to RED
Added comment: Single family reported with homozygous initiation codon variant. Reduced protein expression demonstrated by Western blot.
Sources: Expert list
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Marked gene: CTC1 as ready
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Gene: ctc1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Classified gene: CTC1 as Green List (high evidence)
Syndromic Retinopathy v0.41 CTC1 Bryony Thompson Gene: ctc1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.40 CTC1 Bryony Thompson gene: CTC1 was added
gene: CTC1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Review for gene: CTC1 was set to GREEN
Added comment: Retinopathy is a feature of the condition. At least 10 families reported.
Sources: Expert list
Skeletal Ciliopathies v0.50 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: None
Skeletal Ciliopathies v0.50 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Skeletal Ciliopathies v0.50 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.50 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome (MIM#225500)
Skeletal Ciliopathies v0.49 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Skeletal Ciliopathies v0.48 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.47 ICK Zornitza Stark Marked gene: ICK as ready
Skeletal Ciliopathies v0.47 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.47 ICK Zornitza Stark Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia (MIM#612651)
Skeletal Ciliopathies v0.46 ICK Zornitza Stark Publications for gene: ICK were set to
Skeletal Ciliopathies v0.45 ICK Zornitza Stark Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.44 Zornitza Stark Panel name changed from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Skeletal Ciliopathies v0.43 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Skeletal Ciliopathies v0.43 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.43 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Skeletal Ciliopathies v0.43 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.42 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
Added comment: Ciliary dysfunction associated with prominent skeletal abnormalities in three unrelated families.
Sources: Expert list
Skeletal Ciliopathies v0.41 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Skeletal Ciliopathies v0.41 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.41 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200
Skeletal Ciliopathies v0.40 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to Other
Skeletal Ciliopathies v0.39 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.39 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.38 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: Other
Skeletal Ciliopathies v0.38 LBR Zornitza Stark Marked gene: LBR as ready
Skeletal Ciliopathies v0.38 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.38 LBR Zornitza Stark Classified gene: LBR as Green List (high evidence)
Skeletal Ciliopathies v0.38 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.37 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBR were set to 29068549
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, MIM#215140
Review for gene: LBR was set to GREEN
Added comment: Overlap with ATD in particular.
Sources: Expert list
Skeletal Ciliopathies v0.36 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Skeletal Ciliopathies v0.36 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.36 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990
Skeletal Ciliopathies v0.35 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.34 KIF7 Zornitza Stark Classified gene: KIF7 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.34 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.33 KIF7 Zornitza Stark reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrocallosal syndrome, MIM# 200990, Joubert syndrome 12, MIM# 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.33 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Skeletal Ciliopathies v0.33 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.33 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Skeletal Ciliopathies v0.33 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.32 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 29138412
Phenotypes for gene: KIAA0753 were set to Short-rib skeletal dysplasia
Review for gene: KIAA0753 was set to GREEN
Added comment: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype.
Sources: Expert list
Skeletal Ciliopathies v0.31 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Skeletal Ciliopathies v0.31 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.31 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Skeletal Ciliopathies v0.30 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Skeletal Ciliopathies v0.29 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.28 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.28 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.27 KIAA0586 Zornitza Stark reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: None; Publications: 26166481; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.27 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Skeletal Ciliopathies v0.27 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.27 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM# 236680
Skeletal Ciliopathies v0.26 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.25 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.24 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM# 236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.24 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Skeletal Ciliopathies v0.24 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.24 GLI3 Zornitza Stark Classified gene: GLI3 as Green List (high evidence)
Skeletal Ciliopathies v0.24 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.23 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly
Review for gene: GLI3 was set to GREEN
Added comment: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list
Skeletal Ciliopathies v0.22 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Skeletal Ciliopathies v0.22 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.22 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Skeletal Ciliopathies v0.22 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.21 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM# 270400
Review for gene: DHCR7 was set to GREEN
Added comment: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list
Skeletal Ciliopathies v0.20 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Skeletal Ciliopathies v0.20 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.20 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636
Skeletal Ciliopathies v0.19 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Skeletal Ciliopathies v0.18 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.17 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2888 RARA Zornitza Stark Marked gene: RARA as ready
Mendeliome v0.2888 RARA Zornitza Stark Gene: rara has been classified as Red List (Low Evidence).
Mendeliome v0.2888 RARA Zornitza Stark Classified gene: RARA as Red List (low evidence)
Mendeliome v0.2888 RARA Zornitza Stark Gene: rara has been classified as Red List (Low Evidence).
Mendeliome v0.2887 RARA Zornitza Stark reviewed gene: RARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2887 ERBB2 Zornitza Stark Marked gene: ERBB2 as ready
Mendeliome v0.2887 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Mendeliome v0.2887 ERBB2 Zornitza Stark Classified gene: ERBB2 as Red List (low evidence)
Mendeliome v0.2887 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Mendeliome v0.2886 ERBB2 Zornitza Stark Classified gene: ERBB2 as Red List (low evidence)
Mendeliome v0.2886 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Mendeliome v0.2885 ERBB2 Zornitza Stark reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.143 ERBB2 Zornitza Stark Marked gene: ERBB2 as ready
Callosome v0.143 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Callosome v0.143 ERBB2 Zornitza Stark Classified gene: ERBB2 as Red List (low evidence)
Callosome v0.143 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Callosome v0.142 ERBB2 Zornitza Stark reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2885 BCR Zornitza Stark Marked gene: BCR as ready
Mendeliome v0.2885 BCR Zornitza Stark Gene: bcr has been classified as Red List (Low Evidence).
Mendeliome v0.2885 BCR Zornitza Stark Phenotypes for gene: BCR were changed from to Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065; Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232
Mendeliome v0.2884 BCR Zornitza Stark Classified gene: BCR as Red List (low evidence)
Mendeliome v0.2884 BCR Zornitza Stark Gene: bcr has been classified as Red List (Low Evidence).
Mendeliome v0.2883 BCR Zornitza Stark reviewed gene: BCR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065, Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232; Mode of inheritance: None
Ciliopathies v0.183 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Ciliopathies v0.183 CEP19 Zornitza Stark Gene: cep19 has been classified as Red List (Low Evidence).
Ciliopathies v0.183 CEP19 Zornitza Stark gene: CEP19 was added
gene: CEP19 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 29127258; 24268657
Phenotypes for gene: CEP19 were set to Bardet-Biedl syndorme
Review for gene: CEP19 was set to RED
Added comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome.
Sources: Literature
Bardet Biedl syndrome v0.28 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Bardet Biedl syndrome v0.28 CEP19 Zornitza Stark Gene: cep19 has been classified as Red List (Low Evidence).
Mendeliome v0.2883 CEP19 Bryony Thompson Classified gene: CEP19 as Amber List (moderate evidence)
Mendeliome v0.2883 CEP19 Bryony Thompson Gene: cep19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2882 CEP19 Bryony Thompson gene: CEP19 was added
gene: CEP19 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 29127258; 24268657
Phenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure MIM#615703
Review for gene: CEP19 was set to AMBER
Added comment: A consanguineous Arab family with morbid obesity and infertility with a homozygous predicted null variant, and a mouse model that recapitulates the phenotype. Another homozygous variant has been identified in a consanguineous Bardet Beidl syndrome.
Sources: Literature
Bardet Biedl syndrome v0.28 CEP19 Bryony Thompson gene: CEP19 was added
gene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 29127258; 24268657
Phenotypes for gene: CEP19 were set to Bardet Biedl syndrome
Review for gene: CEP19 was set to RED
Added comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome.
Sources: Expert list
Mendeliome v0.2881 DALRD3 Zornitza Stark Marked gene: DALRD3 as ready
Mendeliome v0.2881 DALRD3 Zornitza Stark Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2881 DALRD3 Zornitza Stark Classified gene: DALRD3 as Amber List (moderate evidence)
Mendeliome v0.2881 DALRD3 Zornitza Stark Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2880 DALRD3 Zornitza Stark gene: DALRD3 was added
gene: DALRD3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DALRD3 were set to 32427860
Phenotypes for gene: DALRD3 were set to Epileptic encephalopathy
Review for gene: DALRD3 was set to AMBER
Added comment: Two individuals reported with same homozygous nonsense variant, functional data.
Sources: Literature
Genetic Epilepsy v0.713 DALRD3 Zornitza Stark Marked gene: DALRD3 as ready
Genetic Epilepsy v0.713 DALRD3 Zornitza Stark Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.713 DALRD3 Zornitza Stark Classified gene: DALRD3 as Amber List (moderate evidence)
Genetic Epilepsy v0.713 DALRD3 Zornitza Stark Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.712 DALRD3 Zornitza Stark gene: DALRD3 was added
gene: DALRD3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DALRD3 were set to 32427860
Phenotypes for gene: DALRD3 were set to Epileptic encephalopathy
Review for gene: DALRD3 was set to AMBER
Added comment: Two individuals reported with same homozygous nonsense variant, functional data.
Sources: Literature
Mendeliome v0.2879 GDF3 Zornitza Stark Marked gene: GDF3 as ready
Mendeliome v0.2879 GDF3 Zornitza Stark Gene: gdf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2879 GDF3 Zornitza Stark Phenotypes for gene: GDF3 were changed from to Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704
Mendeliome v0.2878 GDF3 Zornitza Stark Publications for gene: GDF3 were set to
Mendeliome v0.2877 GDF3 Zornitza Stark Classified gene: GDF3 as Red List (low evidence)
Mendeliome v0.2877 GDF3 Zornitza Stark Gene: gdf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2876 GDF3 Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: 19864492; Phenotypes: Microphthalmia with coloboma 6 613703, Microphthalmia, isolated 7 613704; Mode of inheritance: None
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to ?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 604229; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550
Polymicrogyria and Schizencephaly v0.69 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Polymicrogyria and Schizencephaly v0.68 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.67 PAX6 Zornitza Stark Classified gene: PAX6 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.67 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.11 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Cone-rod Dystrophy v0.11 VSX2 Zornitza Stark Gene: vsx2 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.36 USP45 Zornitza Stark Marked gene: USP45 as ready
Retinitis pigmentosa v0.36 USP45 Zornitza Stark Gene: usp45 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)
Polymicrogyria and Schizencephaly v0.65 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Polymicrogyria and Schizencephaly v0.64 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.64 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Zornitza Stark Marked gene: TEAD1 as ready
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.42 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to LAMA2-related muscular dystrophy
Lissencephaly and Band Heterotopia v0.41 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Lissencephaly and Band Heterotopia v0.40 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2876 KRAS Zornitza Stark Marked gene: KRAS as ready
Mendeliome v0.2876 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Mendeliome v0.2876 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942; RAS-associated autoimmune leukoproliferative disorder 614470; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Mendeliome v0.2875 KRAS Zornitza Stark Publications for gene: KRAS were set to
Mendeliome v0.2874 KRAS Zornitza Stark Mode of pathogenicity for gene: KRAS was changed from to Other
Mendeliome v0.2873 KRAS Zornitza Stark Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.11 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Cone-rod Dystrophy v0.11 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2872 GAA Zornitza Stark Marked gene: GAA as ready
Mendeliome v0.2872 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Mendeliome v0.2872 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM# 232300
Mendeliome v0.2871 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2870 HEXA Zornitza Stark Marked gene: HEXA as ready
Mendeliome v0.2870 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Mendeliome v0.2870 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Mendeliome v0.2869 HEXA Zornitza Stark Publications for gene: HEXA were set to
Mendeliome v0.2868 HEXA Zornitza Stark Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.711 DHX30 Zornitza Stark Marked gene: DHX30 as ready
Genetic Epilepsy v0.711 DHX30 Zornitza Stark Gene: dhx30 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.711 DHX30 Zornitza Stark Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804
Genetic Epilepsy v0.710 DHX30 Zornitza Stark Publications for gene: DHX30 were set to
Genetic Epilepsy v0.709 DHX30 Zornitza Stark Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.708 DHX30 Zornitza Stark reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Marked gene: DHX30 as ready
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Gene: dhx30 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2649 DHX30 Zornitza Stark Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804
Intellectual disability syndromic and non-syndromic v0.2648 DHX30 Zornitza Stark Publications for gene: DHX30 were set to
Intellectual disability syndromic and non-syndromic v0.2647 DHX30 Zornitza Stark Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2646 DHX30 Zornitza Stark reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2867 DHX30 Zornitza Stark Marked gene: DHX30 as ready
Mendeliome v0.2867 DHX30 Zornitza Stark Added comment: Comment when marking as ready: Twelve unrelated individuals reported with de novo missense variants, some recurrent.
Mendeliome v0.2867 DHX30 Zornitza Stark Gene: dhx30 has been classified as Green List (High Evidence).
Mendeliome v0.2867 DHX30 Zornitza Stark Phenotypes for gene: DHX30 were changed from to Neurodevelopmental disorder with severe motor impairment and absent language, 617804
Mendeliome v0.2866 DHX30 Zornitza Stark Publications for gene: DHX30 were set to
Mendeliome v0.2865 DHX30 Zornitza Stark Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Foveal Hypoplasia v0.4 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Foveal Hypoplasia v0.4 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.4 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Foveal Hypoplasia v0.4 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Classified gene: FAT1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.56 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.55 FAT1 Zornitza Stark gene: FAT1 was added
gene: FAT1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 30862798; 26905694
Phenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Review for gene: FAT1 was set to GREEN
Added comment: 5 families reported with eye abnormalities in addition to the renal phenotype.
Sources: Expert Review
Proteinuria v0.112 FAT1 Zornitza Stark Deleted their comment
Proteinuria v0.112 FAT1 Zornitza Stark edited their review of gene: FAT1: Added comment: Another 5 families reported.; Changed rating: GREEN; Changed publications: 30862798; Changed phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.112 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Proteinuria v0.112 FAT1 Zornitza Stark Added comment: Comment when marking as ready: Five families reported.
Proteinuria v0.112 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Proteinuria v0.112 FAT1 Zornitza Stark Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Proteinuria v0.111 FAT1 Zornitza Stark Publications for gene: FAT1 were set to
Proteinuria v0.110 FAT1 Zornitza Stark Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2864 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Mendeliome v0.2864 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Mendeliome v0.2864 FAT1 Zornitza Stark Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Mendeliome v0.2863 FAT1 Zornitza Stark Publications for gene: FAT1 were set to
Mendeliome v0.2862 FAT1 Zornitza Stark Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.11 OPN1SW Zornitza Stark Marked gene: OPN1SW as ready
Cone-rod Dystrophy v0.11 OPN1SW Zornitza Stark Gene: opn1sw has been classified as Green List (High Evidence).
Retinal Disorders Superpanel v0.92 Bryony Thompson Changed child panels to: Syndromic Retinopathy; Autosomal Recessive/X-Linked Retinitis Pigmentosa; Bardet Biedl syndrome; Macular Dystrophy/Stargardt Disease; Cone-rod Dystrophy; Achromatopsia; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Vitreoretinopathy; Foveal Hypoplasia; Stickler Syndrome; Congenital Stationary Night Blindness
Syndromic Retinopathy v0.38 Bryony Thompson removed gene:BBIP1 from the panel
Polymicrogyria and Schizencephaly v0.63 PAX6 Lauren Akesson reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 12731001; Phenotypes: ?Coloboma of optic nerve MIM# 120430, ?Coloboma, ocular MIM# 120200, ?Morning glory disc anomaly MIM# 120430, Aniridia MIM# 106210, Anterior segment dysgenesis 5, multiple subtypes MIM# 604229, Cataract with late-onset corneal dystrophy MIM# 106210, Foveal hypoplasia 1 MIM# 136520, Keratitis MIM# 148190, Optic nerve hypoplasia MIM# 165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.11 VSX2 Bryony Thompson gene: VSX2 was added
gene: VSX2 was added to Cone-rod Dystrophy. Sources: Expert list
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VSX2 were set to 24001013
Phenotypes for gene: VSX2 were set to smooth irides; lens subluxation; cone-rod dysfunction; high myopia
Review for gene: VSX2 was set to RED
Added comment: Single consanguineous case reported with cone-rod dysfunction as a feature of a retinal phenotype.
Sources: Expert list
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Marked gene: VPS13B as ready
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Classified gene: VPS13B as Green List (high evidence)
Syndromic Retinopathy v0.37 VPS13B Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.36 VPS13B Bryony Thompson gene: VPS13B was added
gene: VPS13B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 31580008; 24334764
Phenotypes for gene: VPS13B were set to Cohen syndrome MIM#216550
Review for gene: VPS13B was set to GREEN
Added comment: Retinopathy is a common feature of the condition. >10 cases reported.
Sources: Expert list
Retinitis pigmentosa v0.35 USP45 Bryony Thompson Classified gene: USP45 as Green List (high evidence)
Retinitis pigmentosa v0.35 USP45 Bryony Thompson Gene: usp45 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.34 USP45 Bryony Thompson gene: USP45 was added
gene: USP45 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Lebers congenital amaurosis
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Marked gene: TUBB4B as ready
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Gene: tubb4b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Classified gene: TUBB4B as Green List (high evidence)
Syndromic Retinopathy v0.34 TUBB4B Bryony Thompson Gene: tubb4b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.33 TUBB4B Bryony Thompson gene: TUBB4B was added
gene: TUBB4B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to 29198720
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness MIM#617879
Review for gene: TUBB4B was set to GREEN
Added comment: At least 5 affected individuals from 4 families with Leber congenital amaurosis and early-onset deafness with heterozygosity for 2 missense (R391H, R391C). Functional analysis demonstrated that the mutations have a significant dampening impact on microtubular growth.
Sources: Expert list
Polymicrogyria and Schizencephaly v0.63 NHEJ1 Lauren Akesson reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17191205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291); Mode of inheritance: Unknown
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Marked gene: TRAF3IP1 as ready
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Gene: traf3ip1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Classified gene: TRAF3IP1 as Green List (high evidence)
Syndromic Retinopathy v0.32 TRAF3IP1 Bryony Thompson Gene: traf3ip1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.31 TRAF3IP1 Bryony Thompson gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP1 were set to 26487268
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 MIM#616629
Review for gene: TRAF3IP1 was set to GREEN
Added comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Marked gene: TMEM98 as ready
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Gene: tmem98 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Classified gene: TMEM98 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.54 TMEM98 Bryony Thompson Gene: tmem98 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.53 TMEM98 Bryony Thompson gene: TMEM98 was added
gene: TMEM98 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM98 were set to 24852644; 26392740
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 MIM#615972
Review for gene: TMEM98 was set to GREEN
Added comment: At least three large multi-generational unrelated families reported to segregate heterozygous variants. Nanophthalmos is a rare form of microphthalmia.
Sources: Expert list
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Bryony Thompson Classified gene: TEAD1 as Amber List (moderate evidence)
Macular Dystrophy/Stargardt Disease v0.12 TEAD1 Bryony Thompson Gene: tead1 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.11 TEAD1 Bryony Thompson gene: TEAD1 was added
gene: TEAD1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list
Mode of inheritance for gene: TEAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEAD1 were set to 15016762; 17689488; 30903741; 26091538
Phenotypes for gene: TEAD1 were set to Sveinsson chorioretinal atrophy MIM#108985
Review for gene: TEAD1 was set to AMBER
Added comment: Heterozygous missense variant identified in a large Icelandic pedigree and some supporting functional assays. Same missense reported in another family with a clinical diagnosis of circumpapillary dysgenesis of the pigment epithelium (described as a form of macular degeneration). A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.39 LAMA2 Lauren Akesson reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20207543, 18406646; Phenotypes: LAMA2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2861 KRAS Elena Savva reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23059812, 17056636; Phenotypes: Arteriovenous malformation of the brain, somatic 108010, Bladder cancer, somatic 109800, Breast cancer, somatic 114480, Cardiofaciocutaneous syndrome 2 615278, Gastric cancer, somatic 137215, Leukemia, acute myeloid 601626, . Lung cancer, somatic 211980, Noonan syndrome 3 609942, Pancreatic carcinoma, somatic 260350, RAS-associated autoimmune leukoproliferative disorder 614470, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Cone-rod Dystrophy v0.9 SLC6A6 Bryony Thompson Classified gene: SLC6A6 as Amber List (moderate evidence)
Cone-rod Dystrophy v0.9 SLC6A6 Bryony Thompson Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.8 SLC6A6 Bryony Thompson gene: SLC6A6 was added
gene: SLC6A6 was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Cone-rod retinopathy; cardiomyopathy
Mendeliome v0.2861 GAA Elena Savva reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 31861090; Phenotypes: Foveal hypoplasia 1 MIM#136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2861 HEXA Elena Savva reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31388111; Phenotypes: [Hex A pseudodeficiency] 272800, GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2861 DHX30 Elena Savva reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, 617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson Classified gene: PAX6 as Green List (high evidence)
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson Gene: pax6 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.3 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Foveal Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Foveal hypoplasia 1 MIM#136520
Foveal Hypoplasia v0.2 SLC38A8 Bryony Thompson Classified gene: SLC38A8 as Green List (high evidence)
Foveal Hypoplasia v0.2 SLC38A8 Bryony Thompson Gene: slc38a8 has been classified as Green List (High Evidence).
Retinal Disorders Superpanel v0.70 Bryony Thompson Changed child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Syndromic Retinopathy; Macular Dystrophy/Stargardt Disease; Achromatopsia; Autosomal Dominant Retinitis Pigmentosa; Cone-rod Dystrophy; Usher Syndrome; Vitreoretinopathy; Stickler Syndrome; Congenital Stationary Night Blindness; Foveal Hypoplasia
Foveal Hypoplasia v0.1 SLC38A8 Bryony Thompson gene: SLC38A8 was added
gene: SLC38A8 was added to Foveal Hypoplasia. Sources: Expert list
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 24045842; 24290379
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218
Review for gene: SLC38A8 was set to GREEN
Added comment: At least 10 families reported with foveal hypoplasia as the main feature of the condition.
Sources: Expert list
Foveal Hypoplasia v0.0 Bryony Thompson Added Panel Foveal Hypoplasia
Set panel types to: Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2861 FAT1 Ee Ming Wong changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1
- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAN1
- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation
Proteinuria v0.109 FAT1 Ee Ming Wong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26905694; Phenotypes: SRNS, tubular ectasia, haematuria, facultative neurological involvement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Marked gene: RIMS1 as ready
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Gene: rims1 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Classified gene: RIMS1 as Red List (low evidence)
Cone-rod Dystrophy v0.7 RIMS1 Bryony Thompson Gene: rims1 has been classified as Red List (Low Evidence).
Mendeliome v0.2861 PITPNM3 Bryony Thompson Marked gene: PITPNM3 as ready
Mendeliome v0.2861 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Mendeliome v0.2861 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Mendeliome v0.2861 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Mendeliome v0.2860 PITPNM3 Bryony Thompson reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330, 20590364; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Added comment: Comment on list classification: No convincing evidence and no recent reports
Cone-rod Dystrophy v0.5 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Cone-rod Dystrophy v0.4 PITPNM3 Bryony Thompson edited their review of gene: PITPNM3: Changed publications: 17377520, 22405330, 20590364
Cone-rod Dystrophy v0.4 PITPNM3 Bryony Thompson changed review comment from: Only a single missense (p.Gln626His) identified in 2 Swedish families. Macular atrophy is feature of the cone-rod dystrophy in these families. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. No functional assays have been conducted.; to: Single missense (p.Gln626His) identified in 2 Swedish families and two British macular dystrophy cases. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. Three other variants reported in isolated cases. No functional assays have been conducted.
Achromatopsia v0.9 RGS9BP Bryony Thompson Marked gene: RGS9BP as ready
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.9 RGS9BP Bryony Thompson Classified gene: RGS9BP as Green List (high evidence)
Achromatopsia v0.9 RGS9BP Bryony Thompson Gene: rgs9bp has been classified as Green List (High Evidence).
Achromatopsia v0.8 RGS9BP Bryony Thompson gene: RGS9BP was added
gene: RGS9BP was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9BP were set to 14702087; 19818506
Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415
Review for gene: RGS9BP was set to GREEN
Added comment: At least 3 families reported with homozygous variants
Sources: Expert list
Mendeliome v0.2860 FAT1 Ee Ming Wong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30862798; Phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.7 RGS9 Bryony Thompson Marked gene: RGS9 as ready
Achromatopsia v0.7 RGS9 Bryony Thompson Gene: rgs9 has been classified as Green List (High Evidence).
Achromatopsia v0.7 RGS9 Bryony Thompson Classified gene: RGS9 as Green List (high evidence)
Achromatopsia v0.7 RGS9 Bryony Thompson Gene: rgs9 has been classified as Green List (High Evidence).
Achromatopsia v0.6 RGS9 Bryony Thompson gene: RGS9 was added
gene: RGS9 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9 were set to 14702087; 10676965; 29107794
Phenotypes for gene: RGS9 were set to Bradyopsia MIM#608415
Review for gene: RGS9 was set to GREEN
Added comment: At least 7 families reported with homozygous variants and a supporting null mouse model.
Sources: Expert list
Retinitis pigmentosa v0.33 RCBTB1 Bryony Thompson Marked gene: RCBTB1 as ready
Retinitis pigmentosa v0.33 RCBTB1 Bryony Thompson Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.33 RCBTB1 Bryony Thompson Classified gene: RCBTB1 as Green List (high evidence)
Retinitis pigmentosa v0.33 RCBTB1 Bryony Thompson Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.32 RCBTB1 Bryony Thompson gene: RCBTB1 was added
gene: RCBTB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCBTB1 were set to 27486781
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies MIM#617175
Review for gene: RCBTB1 was set to GREEN
Added comment: Six families with retinal dystrophy with or without extraocular anomalies with homozygous missense variants. Ocular phenotypes ranged from typical RP starting in the second decade to chorioretinal dystrophy with a later age of onset.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.52 RBP4 Bryony Thompson Classified gene: RBP4 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.52 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.51 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBP4 were set to 25910211; 29178648
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428
Review for gene: RBP4 was set to GREEN
Added comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA.
Sources: Literature
Retinitis pigmentosa v0.31 RBP4 Bryony Thompson Marked gene: RBP4 as ready
Retinitis pigmentosa v0.31 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.31 RBP4 Bryony Thompson Classified gene: RBP4 as Green List (high evidence)
Retinitis pigmentosa v0.31 RBP4 Bryony Thompson Gene: rbp4 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.30 RBP4 Bryony Thompson gene: RBP4 was added
gene: RBP4 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 23189188; 9888420; 32323592
Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Review for gene: RBP4 was set to GREEN
Added comment: At least three families reported with arRP
Sources: Expert list
Cone-rod Dystrophy v0.3 OPN1SW Bryony Thompson Classified gene: OPN1SW as Green List (high evidence)
Cone-rod Dystrophy v0.3 OPN1SW Bryony Thompson Gene: opn1sw has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.2 OPN1SW Bryony Thompson gene: OPN1SW was added
gene: OPN1SW was added to Cone-rod Dystrophy. Sources: Expert list
Mode of inheritance for gene: OPN1SW was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPN1SW were set to 22065927; 1531728
Phenotypes for gene: OPN1SW were set to Colorblindness, tritan MIM#190900
Review for gene: OPN1SW was set to GREEN
Added comment: Has been included on this panel, so that it is with the other cone-specific colour blindness genes. At least 6 missense variants associated with tritanopia.
Sources: Expert list
Retinitis pigmentosa v0.29 NMNAT1 Bryony Thompson Marked gene: NMNAT1 as ready
Retinitis pigmentosa v0.29 NMNAT1 Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.29 NMNAT1 Bryony Thompson Classified gene: NMNAT1 as Green List (high evidence)
Retinitis pigmentosa v0.29 NMNAT1 Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.28 NMNAT1 Bryony Thompson gene: NMNAT1 was added
gene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 22842230; 17132048
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9 MIM#608553
Review for gene: NMNAT1 was set to GREEN
Added comment: At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration.
Sources: Expert list
Mendeliome v0.2860 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Mendeliome v0.2860 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2860 JARID2 Zornitza Stark Classified gene: JARID2 as Amber List (moderate evidence)
Mendeliome v0.2860 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2859 JARID2 Zornitza Stark gene: JARID2 was added
gene: JARID2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JARID2 were set to 23294540
Phenotypes for gene: JARID2 were set to Intellectual disability
Review for gene: JARID2 was set to AMBER
Added comment: Emerging evidence that haploinsufficiency causes neurodevelopmental phenotypes, mostly based on CNV data to date.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Classified gene: JARID2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2646 JARID2 Zornitza Stark Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2645 JARID2 Zornitza Stark gene: JARID2 was added
gene: JARID2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JARID2 were set to 23294540
Phenotypes for gene: JARID2 were set to Intellectual disability
Review for gene: JARID2 was set to AMBER
Added comment: Emerging evidence, mostly based on CNV data to date.
Sources: Expert Review
Incidentalome v0.26 ITM2B Bryony Thompson Classified gene: ITM2B as Green List (high evidence)
Incidentalome v0.26 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Incidentalome v0.25 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITM2B were set to Dementia, familial British MIM#176500; Dementia, familial Danish MIM#117300
Mendeliome v0.2858 Bryony Thompson removed gene:ITM2B from the panel
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Marked gene: MSTO1 as ready
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Classified gene: MSTO1 as Green List (high evidence)
Syndromic Retinopathy v0.30 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.29 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28544275
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Pigmentary retinopathy reported as a feature of the condition in at least 3 unrelated cases with biallelic variants.
Sources: Expert list
Congenital Stationary Night Blindness v0.2 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Congenital Stationary Night Blindness v0.2 ITM2B Bryony Thompson Gene: itm2b has been classified as Red List (Low Evidence).
Congenital Stationary Night Blindness v0.2 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Congenital Stationary Night Blindness. Sources: Expert list
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITM2B were set to 24026677
Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Review for gene: ITM2B was set to RED
Added comment: Single family reported with an unusual retinal dystrophy phenotype (most similar to CSNB), segregating a heterozygous missense variant. Minimal functional evidence assessing protein expression and localisation in different tissues.
Sources: Expert list
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Marked gene: HACE1 as ready
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Classified gene: HACE1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.28 HACE1 Bryony Thompson Gene: hace1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.27 HACE1 Bryony Thompson gene: HACE1 was added
gene: HACE1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Review for gene: HACE1 was set to AMBER
Added comment: Retinal dystrophy reported as a feature of the condition in two families.
Sources: Expert list
Achromatopsia v0.4 GNAT2 Bryony Thompson Marked gene: GNAT2 as ready
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.4 GNAT2 Bryony Thompson Classified gene: GNAT2 as Green List (high evidence)
Achromatopsia v0.4 GNAT2 Bryony Thompson Gene: gnat2 has been classified as Green List (High Evidence).
Achromatopsia v0.3 GNAT2 Bryony Thompson gene: GNAT2 was added
gene: GNAT2 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNAT2 were set to 32203983; 17251445
Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856
Review for gene: GNAT2 was set to GREEN
Added comment: Nine cases from four unrelated consanguineous families and a supporting zebrafish model.
Sources: Expert list
Retinitis pigmentosa v0.26 GDF6 Bryony Thompson Marked gene: GDF6 as ready
Retinitis pigmentosa v0.26 GDF6 Bryony Thompson Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.26 GDF6 Bryony Thompson Classified gene: GDF6 as Amber List (moderate evidence)
Retinitis pigmentosa v0.26 GDF6 Bryony Thompson Gene: gdf6 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.25 GDF6 Bryony Thompson gene: GDF6 was added
gene: GDF6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: GDF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF6 were set to 23307924
Phenotypes for gene: GDF6 were set to Leber congenital amaurosis 17 MIM#615360
Review for gene: GDF6 was set to AMBER
Added comment: One compound heterozygote and three cases with a single heterozygous variant where unaffected parent carrier status and allele frequency of variants in gnomAD suggest presence of a second unidentified allele. Supporting in vitro functional assays and retinal apoptosis is observed in both murine and zebrafish mutant models, a characteristic feature of human retinal dystrophies.
Sources: Expert list
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.26 ADIPOR1 Zornitza Stark Publications for gene: ADIPOR1 were set to
Syndromic Retinopathy v0.25 ADIPOR1 Zornitza Stark Classified gene: ADIPOR1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.25 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark changed review comment from: Not syndromic.; to: ID and obesity in addition to RP reported with bi-allelic disease.
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark edited their review of gene: ADIPOR1: Changed rating: AMBER
Syndromic Retinopathy v0.24 ADIPOR1 Zornitza Stark reviewed gene: ADIPOR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2857 ADIPOR1 Zornitza Stark Marked gene: ADIPOR1 as ready
Mendeliome v0.2857 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2857 ADIPOR1 Zornitza Stark Phenotypes for gene: ADIPOR1 were changed from to Retinitis pigmentosa
Mendeliome v0.2856 ADIPOR1 Zornitza Stark Publications for gene: ADIPOR1 were set to
Mendeliome v0.2855 ADIPOR1 Zornitza Stark Mode of inheritance for gene: ADIPOR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2854 ADIPOR1 Zornitza Stark Classified gene: ADIPOR1 as Amber List (moderate evidence)
Mendeliome v0.2854 ADIPOR1 Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2853 ADIPOR1 Zornitza Stark reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27655171, 26662040; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2853 TRIP12 Zornitza Stark commented on gene: TRIP12: At least 10 unrelated patients reported with ID with or without autism (PMIDs: 27848077, 28251352).
Autism v0.96 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Autism v0.96 TRIP12 Zornitza Stark Gene: trip12 has been classified as Green List (High Evidence).
Autism v0.96 TRIP12 Zornitza Stark Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Autism v0.95 TRIP12 Zornitza Stark Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.94 TRIP12 Zornitza Stark reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2853 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Mendeliome v0.2853 TRIP12 Zornitza Stark Gene: trip12 has been classified as Green List (High Evidence).
Mendeliome v0.2853 TRIP12 Zornitza Stark Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Mendeliome v0.2852 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to
Mendeliome v0.2851 TRIP12 Zornitza Stark Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2850 TRIP12 Zornitza Stark reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2644 TRIP12 Zornitza Stark Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Intellectual disability syndromic and non-syndromic v0.2643 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to 27848077; 28251352
Intellectual disability syndromic and non-syndromic v0.2643 TRIP12 Zornitza Stark Publications for gene: TRIP12 were set to
Intellectual disability syndromic and non-syndromic v0.2642 TRIP12 Zornitza Stark Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2641 TRIP12 Chern Lim reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Marked gene: ERCC8 as ready
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Gene: ercc8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Classified gene: ERCC8 as Green List (high evidence)
Syndromic Retinopathy v0.24 ERCC8 Bryony Thompson Gene: ercc8 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.23 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC8 were set to 26204423
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400
Review for gene: ERCC8 was set to GREEN
Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%).
Sources: Literature
Syndromic Retinopathy v0.22 ERCC6 Bryony Thompson Classified gene: ERCC6 as Green List (high evidence)
Syndromic Retinopathy v0.22 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.21 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6 were set to 26204423
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B MIM#133540
Review for gene: ERCC6 was set to GREEN
Added comment: Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%).
Sources: Expert list
Mendeliome v0.2850 CX3CR1 Zornitza Stark Marked gene: CX3CR1 as ready
Mendeliome v0.2850 CX3CR1 Zornitza Stark Gene: cx3cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2850 CX3CR1 Zornitza Stark Phenotypes for gene: CX3CR1 were changed from to Coronary artery disease, resistance to}, MIM# 607339; {Macular degeneration, age-related, 12} 613784; {Rapid progression to AIDS from HIV1 infection} 609423
Mendeliome v0.2849 CX3CR1 Zornitza Stark Classified gene: CX3CR1 as Red List (low evidence)
Mendeliome v0.2849 CX3CR1 Zornitza Stark Gene: cx3cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2849 CX3CR1 Bryony Thompson Classified gene: CX3CR1 as Red List (low evidence)
Mendeliome v0.2849 CX3CR1 Bryony Thompson Gene: cx3cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2848 CX3CR1 Zornitza Stark reviewed gene: CX3CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coronary artery disease, resistance to}, MIM# 607339, {Macular degeneration, age-related, 12} 613784, {Rapid progression to AIDS from HIV1 infection} 609423; Mode of inheritance: None
Mendeliome v0.2848 CX3CR1 Bryony Thompson reviewed gene: CX3CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinitis pigmentosa v0.24 CLCC1 Zornitza Stark Marked gene: CLCC1 as ready
Retinitis pigmentosa v0.24 CLCC1 Zornitza Stark Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2848 CLCC1 Zornitza Stark Marked gene: CLCC1 as ready
Mendeliome v0.2848 CLCC1 Zornitza Stark Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Phenotypes for gene: GRIN2B were changed from to GRIN2B-related neurodevelopmental disorder
Polymicrogyria and Schizencephaly v0.62 GRIN2B Zornitza Stark Publications for gene: GRIN2B were set to
Polymicrogyria and Schizencephaly v0.61 GRIN2B Zornitza Stark Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.21 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Cholestasis v0.21 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR; Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Cholestasis v0.20 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to 23141890
Cholestasis v0.20 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Marked gene: CNNM4 as ready
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Gene: cnnm4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Classified gene: CNNM4 as Green List (high evidence)
Syndromic Retinopathy v0.19 CNNM4 Bryony Thompson Gene: cnnm4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.18 CNNM4 Bryony Thompson gene: CNNM4 was added
gene: CNNM4 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNNM4 were set to 30705057
Phenotypes for gene: CNNM4 were set to Jalili syndrome MIM#217080
Mendeliome v0.2848 CLCC1 Bryony Thompson Classified gene: CLCC1 as Amber List (moderate evidence)
Mendeliome v0.2848 CLCC1 Bryony Thompson Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2847 CLCC1 Bryony Thompson gene: CLCC1 was added
gene: CLCC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CLCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCC1 were set to 30157172
Phenotypes for gene: CLCC1 were set to Retinitis pigmentosa 32
Review for gene: CLCC1 was set to AMBER
Added comment: A presumptive Pakastani founder mutation (c.75C>A, p.D25E) was identified in 8 consanguineous arRP families. A knockout zebrafish model and a Clcc1 +/- mouse model had a supporting retinal phenotype.
Sources: Expert list
Retinitis pigmentosa v0.24 CLCC1 Bryony Thompson Classified gene: CLCC1 as Amber List (moderate evidence)
Retinitis pigmentosa v0.24 CLCC1 Bryony Thompson Gene: clcc1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.23 CLCC1 Bryony Thompson reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30157172; Phenotypes: retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Marked gene: BBIP1 as ready
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Classified gene: BBIP1 as Amber List (moderate evidence)
Syndromic Retinopathy v0.17 BBIP1 Bryony Thompson Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.16 BBIP1 Bryony Thompson gene: BBIP1 was added
gene: BBIP1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18 MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single case with homozygous stopgain that has retinitis pigmentosa has a feature of the syndromic phenotype. A null zebrafish model also has a retinal phenotype.
Sources: Expert list
Cholestasis v0.19 ABCB11 Zornitza Stark Mode of inheritance for gene: ABCB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Marked gene: GRIN1 as ready
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from to GRIN1-related neurodevelopmental disorder
Polymicrogyria and Schizencephaly v0.59 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to
Polymicrogyria and Schizencephaly v0.58 GRIN1 Zornitza Stark Mode of inheritance for gene: GRIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Classified gene: RPGRIP1 as Green List (high evidence)
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.15 ATXN7 Bryony Thompson Tag STR tag was added to gene: ATXN7.
Retinal Disorders Superpanel v0.30 Bryony Thompson Changed child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Syndromic Retinopathy; Macular Dystrophy/Stargardt Disease; Autosomal Dominant Retinitis Pigmentosa; Usher Syndrome; Vitreoretinopathy; Stickler Syndrome; Achromatopsia; Congenital Stationary Night Blindness; Cone-rod Dystrophy
Achromatopsia v0.2 ATF6 Bryony Thompson Marked gene: ATF6 as ready
Achromatopsia v0.2 ATF6 Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence).
Achromatopsia v0.2 ATF6 Bryony Thompson Classified gene: ATF6 as Green List (high evidence)
Achromatopsia v0.2 ATF6 Bryony Thompson Gene: atf6 has been classified as Green List (High Evidence).
Achromatopsia v0.1 ATF6 Bryony Thompson gene: ATF6 was added
gene: ATF6 was added to Achromatopsia. Sources: Expert list
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATF6 were set to 26063662; 26029869
Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517
Review for gene: ATF6 was set to GREEN
Added comment: At least 11 families reported with the biallelic variants and a null mouse model with retinal degeneration.
Sources: Expert list
Achromatopsia v0.0 Bryony Thompson Added Panel Achromatopsia
Set panel types to: Royal Melbourne Hospital; Rare Disease
Ciliopathies v0.181 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Ciliopathies v0.181 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Ciliopathies v0.181 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Ciliopathies v0.181 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Ciliopathies v0.180 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.103 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784
Ciliopathies v0.180 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Marked gene: ARMC9 as ready
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Gene: armc9 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Classified gene: ARMC9 as Amber List (moderate evidence)
Syndromic Retinopathy v0.15 ARMC9 Bryony Thompson Gene: armc9 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.14 ARMC9 Bryony Thompson gene: ARMC9 was added
gene: ARMC9 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 MIM#617622
Review for gene: ARMC9 was set to AMBER
Added comment: Retinal dystrophy has been reported in two out of nine cases. Knockout of Armc9 in zebrafish resulted in curved body shape, retinal dystrophy, coloboma, reduced cilia number in ventricles, and shortened cilia in photoreceptor outer segments.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2641 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2641 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2640 B9D1 Zornitza Stark changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype. However note that in Meckel individual one of the variants identified is a multi-gene deletion and in addition a likely path CEP290 variant also reported.
Intellectual disability syndromic and non-syndromic v0.2640 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed rating: AMBER
Polydactyly v0.33 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Polydactyly v0.33 B9D1 Zornitza Stark Gene: b9d1 has been classified as Red List (Low Evidence).
Polydactyly v0.33 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209
Polydactyly v0.32 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Marked gene: ARL13B as ready
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence).
Polydactyly v0.31 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Classified gene: ARL13B as Green List (high evidence)
Syndromic Retinopathy v0.13 ARL13B Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.12 ARL13B Bryony Thompson gene: ARL13B was added
gene: ARL13B was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 18674751; 30573647; 25138100; 29255182
Phenotypes for gene: ARL13B were set to Joubert syndrome 8 MIM#612291
Review for gene: ARL13B was set to GREEN
Added comment: At least three families reported with retinopathy as a feature of the syndrome. An Arl13b null mouse has defects in retinal development with reduced cell proliferation.
Sources: Expert list
Polydactyly v0.30 B9D1 Zornitza Stark Classified gene: B9D1 as Red List (low evidence)
Polydactyly v0.30 B9D1 Zornitza Stark Gene: b9d1 has been classified as Red List (Low Evidence).
Polydactyly v0.29 B9D1 Zornitza Stark changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described: however note one of the variants was a multi-gene deletion, and in addition the individual had a CEP290 likely path variant. None had polydactyly.
Polydactyly v0.29 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed rating: RED
Syndromic Retinopathy v0.10 ALPK1 Bryony Thompson Classified gene: ALPK1 as Green List (high evidence)
Syndromic Retinopathy v0.10 ALPK1 Bryony Thompson Gene: alpk1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.9 ALPK1 Bryony Thompson gene: ALPK1 was added
gene: ALPK1 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 30967659; 31939038
Phenotypes for gene: ALPK1 were set to ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2846 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Mendeliome v0.2846 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2846 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209
Mendeliome v0.2845 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Mendeliome v0.2844 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2843 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Mendeliome v0.2843 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2842 B9D1 Zornitza Stark changed review comment from: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. Intellectual disability is part of the phenotype.
Sources: Expert list; to: Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described. This latter individual had a splice site variant and a deletion. Splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant.
Mendeliome v0.2842 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed publications: 24886560, 21493627, 25920555
Mendeliome v0.2842 B9D1 Zornitza Stark edited their review of gene: B9D1: Changed rating: AMBER
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.77 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Joubert syndrome and other neurological ciliopathies v0.76 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Joubert syndrome and other neurological ciliopathies v0.75 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.50 ABCB6 Bryony Thompson gene: ABCB6 was added
gene: ABCB6 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCB6 were set to 22226084; 24281366
Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7 MIM#614497
Review for gene: ABCB6 was set to RED
Added comment: Segregation of a missense variant reported in a single Chinese family. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma. The missenses p.Ala57Thr and p.Arg192Gln reported in cases with coloboma are too common in gnomAD for a dominant condition. No convincing evidence reported since the 2012 publication.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.74 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.74 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.73 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24886560, 21493627, 25920555; Phenotypes: Meckel syndrome 9, MIM# 614209, Joubert syndrome 27, MIM# 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.179 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Ciliopathies v0.179 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.179 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Ciliopathies v0.178 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Ciliopathies v0.177 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.176 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Ciliopathies v0.176 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.57 L1CAM Lauren Akesson reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9926316, 27066571; Phenotypes: L1CAM-related disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.175 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Ciliopathies v0.175 TOPORS Zornitza Stark Gene: topors has been classified as Green List (High Evidence).
Ciliopathies v0.175 TOPORS Zornitza Stark Classified gene: TOPORS as Green List (high evidence)
Ciliopathies v0.175 TOPORS Zornitza Stark Gene: topors has been classified as Green List (High Evidence).
Ciliopathies v0.174 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Changed publications: 24026985, 32055034
Renal Ciliopathies and Nephronophthisis v0.102 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Renal Ciliopathies and Nephronophthisis v0.101 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Added comment: Additional family reported.; Changed publications: 24026985, 32055034V
Mendeliome v0.2842 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Mendeliome v0.2841 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Mendeliome v0.2840 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2839 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Added comment: Additional family reported.; Changed publications: 24026985, 32055034
Bardet Biedl syndrome v0.27 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Ciliopathies v0.174 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Polymicrogyria and Schizencephaly v0.57 GRIN2B Lauren Akesson reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28377535; Phenotypes: GRIN2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.18 ABCB11 Michelle Torres reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141890; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2 605479 AR, Cholestasis, progressive familial intrahepatic 2 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.57 GRIN1 Lauren Akesson reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29365063; Phenotypes: GRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.173 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Ciliopathies v0.173 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Ciliopathies v0.173 TULP1 Zornitza Stark Classified gene: TULP1 as Green List (high evidence)
Ciliopathies v0.173 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.101 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.101 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.100 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Changed rating: AMBER
Mendeliome v0.2839 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Mendeliome v0.2839 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2838 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Changed rating: AMBER
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.73 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.172 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Ciliopathies v0.172 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.24 GPD1L Zornitza Stark Marked gene: GPD1L as ready
Incidentalome v0.24 GPD1L Zornitza Stark Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Incidentalome v0.24 GPD1L Zornitza Stark Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777
Incidentalome v0.23 GPD1L Zornitza Stark Publications for gene: GPD1L were set to
Incidentalome v0.22 GPD1L Zornitza Stark Mode of inheritance for gene: GPD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.21 GPD1L Zornitza Stark Classified gene: GPD1L as Amber List (moderate evidence)
Incidentalome v0.21 GPD1L Zornitza Stark Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Incidentalome v0.20 GPD1L Zornitza Stark Tag disputed tag was added to gene: GPD1L.
Incidentalome v0.20 GPD1L Zornitza Stark reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 17967977, 19666841; Phenotypes: Brugada syndrome 2, MIM# 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.10 GPD1L Zornitza Stark Marked gene: GPD1L as ready
Brugada syndrome v0.10 GPD1L Zornitza Stark Added comment: Comment when marking as ready: Rated as DISPUTED by ClinGen.
Brugada syndrome v0.10 GPD1L Zornitza Stark Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Brugada syndrome v0.10 GPD1L Zornitza Stark Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777
Brugada syndrome v0.9 GPD1L Zornitza Stark Publications for gene: GPD1L were set to
Brugada syndrome v0.8 GPD1L Zornitza Stark Mode of inheritance for gene: GPD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.7 GPD1L Zornitza Stark Tag disputed tag was added to gene: GPD1L.
Brugada syndrome v0.7 GPD1L Zornitza Stark Classified gene: GPD1L as Amber List (moderate evidence)
Brugada syndrome v0.7 GPD1L Zornitza Stark Gene: gpd1l has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.171 POC1B Zornitza Stark Marked gene: POC1B as ready
Ciliopathies v0.171 POC1B Zornitza Stark Gene: poc1b has been classified as Green List (High Evidence).
Ciliopathies v0.171 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20 (MIM#615973)
Ciliopathies v0.170 POC1B Zornitza Stark Publications for gene: POC1B were set to
Ciliopathies v0.169 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.168 RPGR Zornitza Stark Marked gene: RPGR as ready
Ciliopathies v0.168 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Ciliopathies v0.168 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Ciliopathies v0.167 RPGR Zornitza Stark Publications for gene: RPGR were set to
Ciliopathies v0.166 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.94 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Autism v0.94 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Autism v0.94 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Autism v0.93 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Autism v0.92 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.91 PACS1 Zornitza Stark reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.708 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Genetic Epilepsy v0.708 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.708 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Genetic Epilepsy v0.707 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Genetic Epilepsy v0.706 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.705 PACS1 Zornitza Stark reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2640 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Intellectual disability syndromic and non-syndromic v0.2640 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2640 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Intellectual disability syndromic and non-syndromic v0.2639 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Intellectual disability syndromic and non-syndromic v0.2638 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2637 PACS1 Zornitza Stark reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2838 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Mendeliome v0.2838 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Mendeliome v0.2838 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Mendeliome v0.2837 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Mendeliome v0.2836 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2835 SLC15A4 Zornitza Stark Marked gene: SLC15A4 as ready
Mendeliome v0.2835 SLC15A4 Zornitza Stark Gene: slc15a4 has been classified as Red List (Low Evidence).
Mendeliome v0.2835 SLC15A4 Zornitza Stark Publications for gene: SLC15A4 were set to
Mendeliome v0.2834 SLC15A4 Zornitza Stark Classified gene: SLC15A4 as Red List (low evidence)
Mendeliome v0.2834 SLC15A4 Zornitza Stark Gene: slc15a4 has been classified as Red List (Low Evidence).
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Added comment: Comment when marking as ready: Not entirely clear at this stage whether this is a ciliopathy.
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Joubert syndrome and other neurological ciliopathies v0.72 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Joubert syndrome and other neurological ciliopathies v0.71 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Amber List (moderate evidence)
Joubert syndrome and other neurological ciliopathies v0.71 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.165 RPGRIP1 Crystle Lee gene: RPGRIP1 was added
gene: RPGRIP1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1 were set to 25414380; 28456785; 24997176; 28559085
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6 (MIM#613826)
Review for gene: RPGRIP1 was set to GREEN
Added comment: Plays an essential role in the photoreceptor connecting cilia (PMID: 25414380). Multiple families reported.

PMID: 28456785; Huang 2017: 3 families reported. 1 of which harboured intragenic (exon 1-22) deletion.

PMID: 24997176; Khan 2014: Reported 11 consang families with variants in RPGRIP1 but 9 of 11 harboured the same p.(Glu370Asnfs*5) variant.

PMID: 28559085; Stone 2017: 2 additional LCA patients reported.

Hameed 2003: Reported 2 different hom missense in 2 families. One of which, Ala547Ser, is present in gnomad (6704 homozygotes)

Green in Retinal disorders panel - PanelApp UK
Sources: Expert Review
Ciliopathies v0.165 DHCR7 Elena Savva gene: DHCR7 was added
gene: DHCR7 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to PMID 23059950
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400)
Added comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly

PanelApp UK: Important differential diagnosis of ciliopathy
Sources: Expert Review
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.100 DCDC2 Elena Savva reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.165 DCDC2 Elena Savva reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.165 B9D1 Elena Savva reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24886560, 21493627, 25920555; Phenotypes: ?Meckel syndrome 9 614209, Joubert syndrome 27 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.165 TOPORS Crystle Lee gene: TOPORS was added
gene: TOPORS was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31 (MIM#609923)
Review for gene: TOPORS was set to GREEN
Added comment: TOPORS is a ciliopathy protein localized to the base of the primary cilium (OMIM). No inheritance pattern noted in OMIM however AD appears to be consistent between 5 families currently reported.

PMID: 17924349; Chakarova 2007: Reported different het variants in 2 families. Haploinsufficiency suggested meechanism. Variants not present in gnomAD.

PMID: 28453362; Latasiewicz 2017: Het variant reported in one family.

PMID: 18509552; Bowne 2008: 2 additional adRP families reported.

Green in 'Retinal disorders' panel - PanelApp UK
Sources: Expert Review
Ciliopathies v0.165 UMOD Zornitza Stark Marked gene: UMOD as ready
Ciliopathies v0.165 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Ciliopathies v0.165 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)
Ciliopathies v0.164 UMOD Zornitza Stark Publications for gene: UMOD were set to
Ciliopathies v0.163 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.76 FLG Zornitza Stark Marked gene: FLG as ready
Ichthyosis and Porokeratosis v0.76 FLG Zornitza Stark Gene: flg has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.76 FLG Zornitza Stark Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris 146700; {Dermatitis, atopic, susceptibility to, 2} 605803
Ichthyosis and Porokeratosis v0.75 FLG Zornitza Stark Publications for gene: FLG were set to
Ichthyosis and Porokeratosis v0.74 FLG Zornitza Stark Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bardet Biedl syndrome v0.26 BBIP1 Elena Savva reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985, 32055034; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.162 BBIP1 Elena Savva edited their review of gene: BBIP1: Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.; Changed phenotypes: Bardet-Biedl Syndrome
Ciliopathies v0.162 BBIP1 Elena Savva reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.17 EVC Zornitza Stark Marked gene: EVC as ready
Skeletal Ciliopathies v0.17 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.17 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Skeletal Ciliopathies v0.16 EVC Zornitza Stark Publications for gene: EVC were set to
Skeletal Ciliopathies v0.15 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.14 EVC Zornitza Stark reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.162 TULP1 Crystle Lee gene: TULP1 was added
gene: TULP1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP1 were set to 17620573; 27440997; 21987678; 15557452
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 M(MIM#600132)
Review for gene: TULP1 was set to GREEN
Added comment: Reported in multiple RP families.
TULP1 expressed in the retina and localizes to the inner segments and connecting cilium of photoreceptors (PMID: 17620573)

Green in 'Retinal disorders' - PanelApp UK
Sources: Expert Review
Joubert syndrome and other neurological ciliopathies v0.70 ZNF423 Crystle Lee gene: ZNF423 was added
gene: ZNF423 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ZNF423 were set to 22863007
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 (MIM#614844)
Mode of pathogenicity for gene: ZNF423 was set to Other
Review for gene: ZNF423 was set to AMBER
Added comment: Limited reports, single publication in 2012 reported AD and AR inheritance. Mechanism not well established. Pending additional reports.

2 Turkish sibs with Joubert syndrome with homozygous mutation in the ZNF423 gene.
Two additional patients with Joubert syndrome were found to carry heterozygous ZNF423 mutations , which caused a dominant-negative effect on protein function in cellular studies. Published variants not present in gnomAD at unexpected frequencies and minimal LoF variants in gnomAD
Sources: Expert Review
Ciliopathies v0.162 ZNF423 Crystle Lee reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: Other; Publications: 22863007; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Brugada syndrome v0.6 GPD1L Elena Savva reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17967977, 19666841; Phenotypes: Brugada syndrome 2 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.162 POC1B Crystle Lee reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25018096, 24945461, 25044745, 29220607, 29377742; Phenotypes: Cone-rod dystrophy 20 (MIM#615973); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.162 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Ciliopathies v0.162 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Ciliopathies v0.162 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Ciliopathies v0.162 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Ciliopathies v0.161 RPGR Crystle Lee reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19815619, 31775781, 26093275, 30105367; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)