SPTBN5

spectrin beta, non-erythrocytic 5
OMIM: 605916, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SPTBN5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related
  • Sacral agenesis
  • congenital anomalies

Red SPTBN5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related
Tags
  • disputed

Red SPTBN5 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Sacral agenesis
  • Multicystic kidney
  • Oligohydramnios