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 1.13

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


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 11, OMIM:615059
Amber SNRPE in Fetal anomalies


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Green SNRPE in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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