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Cerebellar hypoplasia v1.54 SNX14 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal". No evidence of monoallelic forms of the disease was found. MOI reported in OMIM and Gene2Phenotype is Biallelic.
Cerebellar hypoplasia v1.54 SNX14 Ivone Leong Mode of inheritance for gene: SNX14 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia SNX14 Alice Gardham marked SNX14 as ready
Cerebellar hypoplasia SNX14 Alice Gardham classified SNX14 as green
Cerebellar hypoplasia SNX14 Alice Gardham added SNX14 to panel
Cerebellar hypoplasia SNX14 Alice Gardham reviewed SNX14