SNRPE

small nuclear ribonucleoprotein polypeptide E
OMIM: 128260, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SNRPE in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 11, OMIM:615059

Amber SNRPE in Ectodermal dysplasia


Version 1.30
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypotrichosis 11, OMIM:615059
Tags
  • Q2_21_rating
  • Q2_21_NHS_review

Amber SNRPE in Fetal anomalies


Version 1.826
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX

Amber SNRPE in DDG2P


Version 2.60
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059