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Severe Paediatric Disorders

Gene: SMARCD1

Green List (high evidence)

SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1)
EnsemblGeneIds (GRCh38): ENSG00000066117
EnsemblGeneIds (GRCh37): ENSG00000066117
OMIM: 601735, Gene2Phenotype
SMARCD1 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SMARCD1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Generalized hypotonia;Feeding difficulties;Global developmental delay;Intellectual disability;Abnormality of the hand;Abnormality of the foot; Mode of inheritance:
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
601735
Clinvar variants
Variants in SMARCD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SMARCD1 were changed from Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand to Abnormality of the foot; Global