Genomics England
GMS Panels
Panels
Genes and Entities

PRIM1

DNA primase subunit 1
OMIM: 176635
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIM1-related Primordial Dwarfism
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005