Microcephaly
Gene: TRAPPC12EnsemblGeneIds (GRCh38): ENSG00000171853
EnsemblGeneIds (GRCh37): ENSG00000171853
OMIM: 614139, Gene2Phenotype
TRAPPC12 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported, microcephaly present in three.Created: 4 Sep 2020, 2:28 a.m. | Last Modified: 4 Sep 2020, 2:28 a.m.
Panel Version: 0.452
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
- OMIM
- 614139
- Clinvar variants
- Variants in TRAPPC12
- 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: trappc12 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRAPPC12 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRAPPC12 was added gene: TRAPPC12 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAPPC12 was set to Unknown