Growth failure
Gene: MCM5
MCM5 (minichromosome maintenance complex component 5)
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported.Created: 30 Aug 2021, 2:24 a.m. | Last Modified: 30 Aug 2021, 2:24 a.m.
Panel Version: 0.353
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 8 (MIM#617564)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Meier-Gorlin syndrome 8 (MIM#617564)
- OMIM
- 602696
- Clinvar variants
- Variants in MCM5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Aug 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mcm5 has been classified as Red List (Low Evidence).
30 Aug 2021, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 to Meier-Gorlin syndrome 8 (MIM#617564)
19 Jul 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: MCM5 was added gene: MCM5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM5 were set to 28198391 Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8