Genomics England
GMS Panels
Panels
Genes and Entities

SVBP

small vasohibin binding protein
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569, Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569, Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816