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Hair disorders

Gene: SNRPE

Green List (high 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)

Green List (high evidence)

Aware of further unpublished case.
Created: 3 Jul 2021, 7:21 a.m. | Last Modified: 3 Jul 2021, 7:21 a.m.
Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 11, MIM#615059

Created: 3 Jul 2021, 7:21 a.m.
Last Modified: 3 Jul 2021, 7:21 a.m.
Panel version: 0.45

Bryony Thompson (Royal Melbourne Hospital)

I don't know

3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays.
Sources: NHS GMS
Created: 29 Jul 2020, 1:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 11 MIM#615059

Publications

Created: 29 Jul 2020, 1:59 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypotrichosis 11 MIM#615059
OMIM
128260
Clinvar variants
Variants in SNRPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

29 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SNRPE was added gene: SNRPE was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNRPE were set to 23246290 Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059 Review for gene: SNRPE was set to AMBER