1. Genes and Genomic Entities
  2. PRIM1

PRIM1

DNA primase subunit 1
OMIM: 176635, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PRIM1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green PRIM1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green PRIM1 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Microcephalic primordial dwarfism, MONDO:0017950
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green PRIM1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRIM1-related Primordial Dwarfism