Severe microcephaly
Gene: SMARCA5EnsemblGeneIds (GRCh38): ENSG00000153147
EnsemblGeneIds (GRCh37): ENSG00000153147
OMIM: 603375, Gene2Phenotype
SMARCA5 is in 2 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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)
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: LiteratureCreated: 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 Green
- Literature
- Phenotypes
-
- intellectual disability
- postnatal microcephaly
- hypotonia
- failure to thrive
- Tags
- OMIM
- 603375
- Clinvar variants
- Variants in SMARCA5
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: SMARCA5.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SMARCA5.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SMARCA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_NHS_review was removed from gene: SMARCA5.
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