Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

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 developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand; Coffin-Siris syndrome 11, 618779

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SMARCD1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Abnormality of the hand; Intellectual disability; Global developmental delay; Feeding difficulties; Generalized hypotonia; Abnormality of the foot for gene: SMARCD1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SMARCD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SMARCD1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SMARCD1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SMARCD1 was added gene: SMARCD1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMARCD1 was set to