C7orf43

chromosome 7 open reading frame 43
Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber C7orf43 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly 25, primary, autosomal recessive, OMIM:618351 Microcephaly 25, primary, autosomal recessive, MONDO:0032694 Tags new-gene-name

Panel

Reviews

Mode of inheritance

Details

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review

BIALLELIC, autosomal or pseudoautosomal