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Cerebral Palsy v1.159 SMARCB1 Zornitza Stark Classified gene: SMARCB1 as Amber List (moderate evidence)
Cerebral Palsy v1.159 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.144 SMARCB1 Luisa Weiss reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234; Phenotypes: Coffin-Siris syndrome 3 MIM#614608, Rhabdoid tumors, somatic MIM#609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.139 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Cerebral Palsy v0.139 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Red List (Low Evidence).
Cerebral Palsy v0.139 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Cerebral Palsy. Sources: Expert list
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, MIM# 614608
Review for gene: SMARCB1 was set to RED
Added comment: Intellectual disability and dysmorphic features, no strong phenotypic overlap with CP.
Sources: Expert list