PRIM1

DNA primase subunit 1
OMIM: 176635, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PRIM1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.42

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005

Green PRIM1 in Mendeliome


Version 1.4559

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Tags
  • deep intronic
  • founder

Amber PRIM1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.420

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Tags
  • deep intronic
  • founder

Green PRIM1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.145

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276

    Amber PRIM1 in Fetal anomalies


    Version 1.543

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
    Tags
    • deep intronic
    • founder