SMARCC1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
OMIM: 601732, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SMARCC1 in Hydrocephalus Level 2: Neurology Version 5.12 Latest signed off version: v5.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Aqueductal stenosis Septal agenesis Corpus callosum abnormalities {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Green SMARCC1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital hydrocephalus Aqueductal stenosis Septal agenesis Corpus callosum abnormalities {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Red SMARCC1 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red