Growth failure
Gene: CDC45
CDC45 (cell division cycle 45)
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000093009
EnsemblGeneIds (GRCh37): ENSG00000093009
OMIM: 603465, Gene2Phenotype
CDC45 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 families reported, short stature is a defining feature.
Sources: Expert ReviewCreated: 11 Nov 2021, 10:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 7, MIM 617063
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Meier-Gorlin syndrome 7, MIM 617063
- OMIM
- 603465
- Clinvar variants
- Variants in CDC45
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Nov 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc45 has been classified as Green List (High Evidence).
11 Nov 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc45 has been classified as Green List (High Evidence).
11 Nov 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDC45 was added gene: CDC45 was added to Growth failure. Sources: Expert Review Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC45 were set to 31474763; 27374770 Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, MIM 617063 Review for gene: CDC45 was set to GREEN