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Severe microcephaly

Gene: SMARCA5

Amber List (moderate 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

2 reviews

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). Postnatal microcephaly [HC ranging between -2.33 and -6.21 SD] was evident in 10/12 individuals, and three had a birth HC less than −2.5 SD. Overall sufficient number of unrelated families presenting microcephaly of relevant severity to warrant a Green rating on this panel.
Created: 9 Jun 2021, 3:12 p.m. | Last Modified: 9 Jun 2021, 3:33 p.m.
Panel Version: 2.207

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability
  • postnatal microcephaly
  • hypotonia
  • failure to thrive
Tags
Q2_21_rating
OMIM
603375
Clinvar variants
Variants in SMARCA5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Jun 2021, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_NHS_review was removed from gene: SMARCA5.

9 Jun 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SMARCA5 was added gene: SMARCA5 was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q2_21_rating, Q2_21_NHS_review tags were added to gene: SMARCA5. 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