PRIM1

DNA primase subunit 1
OMIM: 176635, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PRIM1 in Primary immunodeficiency


Version 2.427
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
Tags
  • Q2_21_rating

Amber PRIM1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.207
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
Tags
  • Q2_21_rating