SMARCD2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SMARCD2 in COVID-19 research


Level 2: Viral research
Version 1.130

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


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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 2.20
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Specific granule deficiency 2, 617475

Amber SMARCD2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Specific granule deficiency 2, 617475 (includes global developmental delay in some patients)
    Tags
    • watchlist