STAMBP

STAM binding protein
OMIM: 606247, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red STAMBP in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261
  • Microcephaly-capillary malformation syndrome
Green STAMBP in Vascular skin disorders


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Green STAMBP in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Green STAMBP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Green STAMBP in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
    Green STAMBP in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Microcephaly-capillary malformation syndrome, OMIM:614261
    Green STAMBP in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly-capillary malformation syndrome, OMIM:614261
    Green STAMBP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Microcephaly-capillary malformation syndrome, OMIM:614261