Severe microcephaly

Gene: STAMBP

Green List (high evidence)

STAMBP (STAM binding protein)
EnsemblGeneIds (GRCh38): ENSG00000124356
EnsemblGeneIds (GRCh37): ENSG00000124356
OMIM: 606247, Gene2Phenotype
STAMBP is in 7 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Multiple families reported
12 Jan 2017, 12:29 p.m.
Identified in at least nine families
12 Jan 2017, 12:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome 614261

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly-capillary malformation syndrome 614261
OMIM
606247
Clinvar variants
Variants in STAMBP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

STAMBP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

STAMBP was created by agardham