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  3. STAMBP
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Cerebral Palsy

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

Luisa Weiss (University of Adelaide)

Green List (high evidence)

2 cases in a larger CP cohort study with homozygous missense mutations in STAMBP, no phenotypic information is given.
McDonnell et al. (23542699) presented a large cohort of previously published and unpublished patients with microcephaly-capillary malformation syndrome, which all had cutaneous abnormalities, developmental delay and epilepsy, but 8 of which presented with spastic quadriparesis. Overlap with CP is possible; however, additional phenotypic features seem to be present in any case.
Sources: Literature
Created: 31 Jul 2023, 11:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly-capillary malformation syndrome MIM#614261

Publications

Created: 31 Jul 2023, 11:57 p.m.

Panel version: 1.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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 Aug 2023, 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 Aug 2023, 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).

31 Jul 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: STAMBP was added gene: STAMBP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 33528536; 23542699 Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome MIM#614261 Review for gene: STAMBP was set to GREEN