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Intellectual disability syndromic and non-syndromic

Gene: SNRPA

Red List (low evidence)

SNRPA (small nuclear ribonucleoprotein polypeptide A)
EnsemblGeneIds (GRCh38): ENSG00000077312
EnsemblGeneIds (GRCh37): ENSG00000077312
OMIM: 182285, Gene2Phenotype
SNRPA is in 1 panel

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 report of concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in 2 female siblings with 3 homozygous missense variants in SNRPA. Combined, c.97A>G, c.98T>C, and c.100T>A, in exon 2 of SNRPA lead to p.Ile33Ala and p.Phe34Ile exchanges, which were predicted in silico to be deleterious. No functional studies.
Created: 10 Dec 2019, 10:28 p.m. | Last Modified: 10 Dec 2019, 10:28 p.m.
Panel Version: 0.1219

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • no OMIM # yet
OMIM
182285
Clinvar variants
Variants in SNRPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snrpa has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: snrpa has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from SNRPA. Source Expert list was added to SNRPA. Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNRPA were changed from to no OMIM # yet Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNRPA was added gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPA was set to Unknown