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Fetal anomalies

Gene: SNRPE

Red List (low evidence)
SNRPE (small nuclear ribonucleoprotein polypeptide E)
EnsemblGeneIds (GRCh38): ENSG00000182004
EnsemblGeneIds (GRCh37): ENSG00000182004
OMIM: 128260, Gene2Phenotype
SNRPE is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Three unrelated families reported with hypotrichosis simplex; only one family reported with ID.
Created: 13 Dec 2019, 10:23 a.m. | Last Modified: 13 Dec 2019, 10:23 a.m.
Panel Version: 0.1396
Created: 13 Dec 2019, 10:23 a.m.
Last Modified: 13 Dec 2019, 10:23 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1396

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 patient with de novo heterozygous missense SNRPE mutation, with non-syndromic primary microcephaly and intellectual disability. SNRPE encodes SmE and they showed that the microcephaly-linked SmE variant is unable to interact with the SMN complex and as a consequence fails to assemble into U snRNPs. This results in widespread mRNA splicing alterations in fibroblast cells derived from this patient. Similar alterations were observed in HEK293 cells upon SmE depletion that could be rescued by the expression of wild type but not mutant SmE. Depletion of SmE in zebrafish causes aberrant mRNA splicing alterations and reduced brain size, reminiscent of the patient microcephaly phenotype.
Sources: Literature
Created: 11 Dec 2019, 4:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 11; OMIM #615059

Created: 11 Dec 2019, 4:09 a.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1293

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Hypotrichosis 11, MIM #615059
OMIM
128260
Clinvar variants
Variants in SNRPE
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNRPE were changed from AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX to Hypotrichosis 11, MIM #615059

28 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNRPE was added gene: SNRPE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX