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Vascular skin disorders

Gene: STAMBP

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 Dec 2024, 10:02 p.m. | Last Modified: 4 Dec 2024, 10:02 p.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Dec 2024, 10:02 p.m.
Last Modified: 4 Dec 2024, 10:02 p.m.
Panel version: 1.65

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Multiple unrelated cases reported in the literature of biallelic variants in the STAMBP gene as the cause of microcephaly-capillary malformation syndrome (PMID: 21271646; 21548128; 21815250; 23542699; 25692795; 27531570; 29907875). Generalised capillary malformations on the skin are a cardinal feature of this condition and therefore inclusion of STAMBP on the panel is warranted.
Created: 25 Mar 2024, 3:56 p.m. | Last Modified: 25 Mar 2024, 3:56 p.m.
Panel Version: 1.62
Created: 25 Mar 2024, 3:56 p.m.
Last Modified: 25 Mar 2024, 3:56 p.m.
Panel version: 1.62

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

Created: 2 Jul 2020, 5:54 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
OMIM
606247
Clinvar variants
Variants in STAMBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: STAMBP.

4 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to STAMBP. Source NHS GMS was added to STAMBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Mar 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_24_promote_green tag was added to gene: STAMBP.

25 Mar 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: STAMBP were set to 23542699

25 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: stambp has been classified as Amber List (Moderate Evidence).

25 Mar 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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