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Intellectual disability syndromic and non-syndromic

Gene: SRRM2

Green List (high evidence)

SRRM2 (serine/arginine repetitive matrix 2)
EnsemblGeneIds (GRCh38): ENSG00000167978
EnsemblGeneIds (GRCh37): ENSG00000167978
OMIM: 606032, Gene2Phenotype
SRRM2 is in 2 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

22 patients with LoF variants in SRRM2 (12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb), 2 of which confirmed de novo. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present.
NB: access to abstract only
Created: 2 Jun 2022, 1:17 a.m. | Last Modified: 2 Jun 2022, 1:17 a.m.
Panel Version: 0.4811

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092 SRRM2-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 28 de novo variants (11 frameshift, 7 missense, 1 splice acceptor, 5 stopgain, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Created: 4 Nov 2020, 5:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 72, MIM# 620439
OMIM
606032
Clinvar variants
Variants in SRRM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SRRM2 were set to 33057194

1 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRRM2 were changed from neurodevelopmental disorder MONDO:0700092 SRRM2-related to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439

2 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRRM2 were changed from Developmental disorders to neurodevelopmental disorder MONDO:0700092 SRRM2-related

2 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srrm2 has been classified as Green List (High Evidence).

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srrm2 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srrm2 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRRM2 was added gene: SRRM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRRM2 were set to 33057194 Phenotypes for gene: SRRM2 were set to Developmental disorders Review for gene: SRRM2 was set to AMBER