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Prepair 1000+

Gene: STAMBP

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

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. Mouse model shows lethality within weeks of birth.
Created: 25 Sep 2024, 11:57 a.m. | Last Modified: 25 Sep 2024, 11:57 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome MIM#614261

Publications

Created: 25 Sep 2024, 11:57 a.m.
Last Modified: 25 Sep 2024, 11:57 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261 (3)
OMIM
606247
Clinvar variants
Variants in STAMBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: stambp has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: STAMBP were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STAMBP was added gene: STAMBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)