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
Green SMARCD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coffin-Siris syndrome 11, OMIM:618779
Green SMARCD1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SYNDROMIC INTELLECTUAL DISABILITY 612100
    Green SMARCD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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 Green
    Phenotypes
    • Generalized hypotonia
    • Feeding difficulties
    • Global developmental delay
    • Intellectual disability
    • Abnormality of the hand
    • Abnormality of the foot
    • Coffin-Siris syndrome 11, 618779