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  3. SMARCA5
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Intellectual disability

Gene: SMARCA5

Green List (high evidence)
SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5)
EnsemblGeneIds (GRCh38): ENSG00000153147
EnsemblGeneIds (GRCh37): ENSG00000153147
OMIM: 603375, Gene2Phenotype
SMARCA5 is in 2 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; microcephaly; dysmorphic features

Publications

Created: 11 Jun 2021, 8:30 a.m.
Last Modified: 11 Jun 2021, 8:30 a.m.
Panel version: 3.1120

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added and reviewed Green by Julia Baptista (RD&E NHS FT). SMARCA5 should be promoted to Green at the next GMS panel update.

Variants have been associated with a variable neurodevelopmental phenotype including predominantly mild DD, short stature, and microcephaly (PMID:33980485). Regarding cognition, four probands had mild ID and one had severe ID. Although relatively mild in most patients, the number of unrelated families presenting ID is sufficient for a Green rating and inclusion on this panel should increase the likelihood of detecting cases.
Created: 9 Jun 2021, 3:12 p.m. | Last Modified: 9 Jun 2021, 3:12 p.m.
Panel Version: 3.1117
Created: 9 Jun 2021, 3:12 p.m.
Last Modified: 9 Jun 2021, 3:12 p.m.
Panel version: 3.1117

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

The authors identified seven missense variants, one splice-altering variant that led to exon skipping and in-frame deletion, and one recurrent in-frame deletion in 12 individuals from
10 unrelated families. The variant was de novo in nine individuals. They presented a broad range of clinical features from isolated autism to syndromic intellectual disability.
Sources: Literature
Created: 1 Jun 2021, 10:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; postnatal microcephaly; hypotonia; failure to thrive

Publications

Created: 1 Jun 2021, 10:27 a.m.

Panel version: 3.1100

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • intellectual disability
  • postnatal microcephaly
  • hypotonia
  • failure to thrive
Tags
gene-checked
OMIM
603375
Clinvar variants
Variants in SMARCA5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SMARCA5.

14 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SMARCA5. Tag Q2_21_NHS_review was removed from gene: SMARCA5.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SMARCA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Jun 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SMARCA5. Tag Q2_21_NHS_review tag was added to gene: SMARCA5.

9 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: smarca5 has been classified as Amber List (Moderate Evidence).

1 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: SMARCA5 was added gene: SMARCA5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA5 were set to 33980485 Phenotypes for gene: SMARCA5 were set to intellectual disability; postnatal microcephaly; hypotonia; failure to thrive Penetrance for gene: SMARCA5 were set to unknown Review for gene: SMARCA5 was set to GREEN