Clefting
Gene: STAMBP

STAMBP (STAM binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124356
EnsemblGeneIds (GRCh37): ENSG00000124356
OMIM: 606247, Gene2Phenotype
STAMBP is in 8 panels

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Cleft described in one patient out of five families reported to date, so it may be a rare feature
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Microcephaly-capillary malformation syndrome, OMIM:614261

OMIM

606247

Clinvar variants

Variants in STAMBP

Penetrance

Complete

Panels with this gene

History Filter Activity

25 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: STAMBP were changed from MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP to Microcephaly-capillary malformation syndrome, OMIM:614261

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

STAMBP was added to Cleftingpanel. Sources: Expert Review Green

31 May 2017, Gel status: 0

Created