SMARCD1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
OMIM: 601735, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SMARCD1 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • SYNDROMIC INTELLECTUAL DISABILITY 612100

    Green SMARCD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Generalized hypotonia
    • Feeding difficulties
    • Global developmental delay
    • Intellectual disability
    • Abnormality of the hand
    • Abnormality of the foot
    • Coffin-Siris syndrome 11, 618779

    Green SMARCD1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Abnormality of the foot
    • Global developmental delay
    • Generalized hypotonia
    • Feeding difficulties
    • Intellectual disability
    • Abnormality of the hand
    • Coffin-Siris syndrome 11, 618779