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


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

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