STAMBP

STAM binding protein
OMIM: 606247, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green STAMBP in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome MIM#614261

Green STAMBP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261
  • MONDO:0013659

Green STAMBP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261
  • MONDO:0013659

Green STAMBP in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261

Green STAMBP in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261 (3)

Green STAMBP in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MICCAP
  • MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Green STAMBP in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261
  • MONDO:0013659

Green STAMBP in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261 (3)