Microcephaly
Gene: GOLGA2EnsemblGeneIds (GRCh38): ENSG00000167110
EnsemblGeneIds (GRCh37): ENSG00000167110
OMIM: 602580, Gene2Phenotype
GOLGA2 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Third family reported.Created: 11 Feb 2023, 11:27 p.m. | Last Modified: 11 Feb 2023, 11:27 p.m.
Panel Version: 1.191
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
Publications
Elena Savva (Victorian Clinical Genetics Services)
PMID: 30237576 - One 11 year old patient with a homozygous PTC.
Patient had global dev delay, microcephaly, distal muscle weakness with joint contractures and elevated CK levels. Muscle biopsy showed dystrophin changes. MRI at 2 years old showed brain atrophy with thin corpus callosum and hypomyelination. No seizures or regression.
PMID: 26742501 - One infant with a homozygous PTC.
Patient had dev delay, seizures, microcephaly and muscular dystrophy. Zebrafish null model recapitulates the human phenotype with microcephaly and skeletal muscle disorganization.
Summary: 2 patients + animal model
Sources: LiteratureCreated: 24 Jun 2020, 3:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuromuscular disorder
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
- OMIM
- 602580
- Clinvar variants
- Variants in GOLGA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GOLGA2 were changed from Neuromuscular disorder to Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: golga2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: golga2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: GOLGA2 was added gene: GOLGA2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA2 were set to PMID: 30237576; 26742501 Phenotypes for gene: GOLGA2 were set to Neuromuscular disorder Review for gene: GOLGA2 was set to GREEN