Non-syndromic hypotrichosis

Gene: SNRPE

Amber List (moderate evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept SNRPE rating as Amber awaiting further cases. Probable DD-G2P gene for hypotrichosis. Originally reviewed as red based on the variable phenotype in the original 1998 Spanish family. Plus, although there are 3 cases presented in PMID:23246290 (Pasternack et al., 2013), the genotype for the Tunisian family is incomplete as only the proband was sequenced.
Created: 20 Feb 2017, 2:18 p.m.
Comment on list classification: Updated rating from Red to Amber: 3 cases presented in PMID:23246290 but in the Tunisian case, DNA is not available from the unaffected parents. And in the Spanish case, the phenotype is highly variable.
Created: 16 Feb 2017, 9:39 a.m.
A third case is given in the same paper: PMID:23246290 (Pasternack et al., 2013) identify an additional mutation ((c.133G>A [p.Gly45Ser]) in a Tunisian boy with hypotrichosis. His parents were unaffected (therefore mutation could be de novo) but their DNA was unavailable for analysis.
Created: 16 Feb 2017, 9:38 a.m.
PMID:23246290 (Pasternack et al., 2013) identify a heterozygous mutation c.1A>G (p.Met1?) in SNRPE in affected members of a Spanish family, and an unrelated British girl. They class the mutation in the British girl as de novo (her unaffected parents lacked the mutation). The Spanish family was previouslyreported by PMID:9621144 (Just et al., 1998), and the reviewer notes this family showed phenotypic variability.
Created: 16 Feb 2017, 9:37 a.m.

Celia Moss (Birmingham Children's Hospital)

I don't know

I note that 2 other cases have been reported with alopecia and mutations in this gene, so there are > 3 unrelated cases.
Created: 13 Feb 2017, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Highly variable phenotype within the single family reported (in 1998).

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 11, 615059
  • HYPT11
OMIM
128260
Clinvar variants
Variants in SNRPE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.

20 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SNRPE was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SNRPE was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SNRPE was created by rfoulger

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SNRPE was added to Non-syndromic hypotrichosispanel. Sources: Other