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 Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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