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  2. Vascular Malformations_Germline
  3. STAMBP
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Vascular Malformations_Germline

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine families reported in the original publication.
Created: 2 Jul 2020, 5:52 a.m. | Last Modified: 2 Jul 2020, 5:52 a.m.
Panel Version: 0.108

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome, MIM# 614261

Publications

Created: 2 Jul 2020, 5:52 a.m.
Last Modified: 2 Jul 2020, 5:52 a.m.
Panel version: 0.108

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome to Microcephaly-capillary malformation syndrome, MIM# 614261

2 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STAMBP were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STAMBP was added gene: STAMBP was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome