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Intellectual disability v3.61 SMARCD1 Eleanor Williams Phenotypes for gene: SMARCD1 were changed from Generalized hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Abnormality of the hand; Abnormality of the foot to Generalized hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Abnormality of the hand; Abnormality of the foot; Coffin-Siris syndrome 11, 618779
Intellectual disability v2.1039 SMARCD1 Rebecca Foulger commented on gene: SMARCD1: The Green review by Cristina Dias supports the current Green rating of SMARCD1.
Intellectual disability v2.1022 SMARCD1 Cristina Dias reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30879640; Phenotypes: developmental delay, intellectual disability, hypotonia, feeding difficulties, small hands, small feet; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.944 SMARCD1 Ivone Leong Classified gene: SMARCD1 as Green List (high evidence)
Intellectual disability v2.944 SMARCD1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SMARCD1 is not associated with any phenotype in OMIM or Gene2Phenotype. After consulting with the Genomics England Clinical Team and based on the submitted expert review, it was decided that there is enough evidence to promote this gene to green status.
Intellectual disability v2.944 SMARCD1 Ivone Leong Gene: smarcd1 has been classified as Green List (High Evidence).
Intellectual disability v2.943 SMARCD1 Ivone Leong Mode of inheritance for gene: SMARCD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.942 SMARCD1 Ivone Leong Phenotypes for gene: SMARCD1 were changed from to Generalized hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Abnormality of the hand; Abnormality of the foot
Intellectual disability v2.925 SMARCD1 Ivone Leong Publications for gene: SMARCD1 were set to 26350204
Intellectual disability v2.784 SMARCD1 Konstantinos Varvagiannis reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.ajhg.2019.02.001; Phenotypes: Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Abnormality of the hand, Abnormality of the foot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown