Microcephaly
Gene: STAMBP

STAMBP (STAM binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124356
EnsemblGeneIds (GRCh37): ENSG00000124356
OMIM: 606247, Gene2Phenotype
STAMBP is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects.

At least 15 unrelated families reported.
Created: 1 Apr 2021, 9:30 a.m. | Last Modified: 1 Apr 2021, 9:30 a.m.

Panel Version: 0.614

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659

Publications

Created: 1 Apr 2021, 9:30 a.m.
Last Modified: 1 Apr 2021, 9:30 a.m.
Panel version: 0.614

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly-capillary malformation syndrome, MIM# 614261
MONDO:0013659

OMIM

606247

Clinvar variants

Variants in STAMBP

Penetrance

None

Publications

Panels with this gene