Vascular skin disorders

Gene: STAMBP

No list

STAMBP (STAM binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124356
EnsemblGeneIds (GRCh37): ENSG00000124356
OMIM: 606247, Gene2Phenotype
STAMBP is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Nine families reported in the original publication.
Sources: Expert list
Created: 2 Jul 2020, 5:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome, MIM# 614261

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261
OMIM
606247
Clinvar variants
Variants in STAMBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: STAMBP was added gene: STAMBP was added to Vascular skin disorders. Sources: Expert list Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 23542699 Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, MIM# 614261 Review for gene: STAMBP was set to GREEN