Microcephaly
Gene: GMNNEnsemblGeneIds (GRCh38): ENSG00000112312
EnsemblGeneIds (GRCh37): ENSG00000112312
OMIM: 602842, Gene2Phenotype
GMNN is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated individuals reported with variants in exon 2 (first coding exon) and primordial dwarfism (including microcephaly), microtia, and absent patellae.
Sources: Expert listCreated: 2 Sep 2020, 12:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Meier-Gorlin syndrome 6, MIM# 616835
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Meier-Gorlin syndrome 6, MIM# 616835
- OMIM
- 602842
- Clinvar variants
- Variants in GMNN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gmnn has been classified as Green List (High Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GMNN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gmnn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GMNN was added gene: GMNN was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: GMNN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM# 616835 Review for gene: GMNN was set to GREEN