Microcephaly
Gene: PUS7EnsemblGeneIds (GRCh38): ENSG00000091127
EnsemblGeneIds (GRCh37): ENSG00000091127
OMIM: 616261, Gene2Phenotype
PUS7 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: LiteratureCreated: 11 Dec 2019, 10:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM #618342
- OMIM
- 616261
- Clinvar variants
- Variants in PUS7
- 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: pus7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pus7 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: PUS7 was added gene: PUS7 was added to Microcephaly_VCGS. Sources: Literature Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342