SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
OMIM: 601736, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SMARCD2 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Congenital defects of phagocyte number or function Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
Green SMARCD2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia Congenital defects of phagocyte number or function Specific granule deficiency 2, 617475
Red SMARCD2 in Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Specific granule deficiency 2, 617475
Red SMARCD2 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Amber SMARCD2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Tags watchlist