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Multiple pterygium syndrome_Fetal akinesia sequence v0.6 | KLHL40 | Zornitza Stark Marked gene: KLHL40 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 | KLHL40 | Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 | KLHL40 | Zornitza Stark Tag founder tag was added to gene: KLHL40. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 | KLHL40 | Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.5 | KLHL40 | Zornitza Stark Publications for gene: KLHL40 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.4 | KLHL40 | Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 | KLHL40 | Zornitza Stark reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 | KLHL40 |
Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KLHL40 was set to Unknown |