Childhood onset hereditary spastic paraplegia
Gene: CTNNB1
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:15 p.m.
Panel Version: 4.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: This gene should be promoted to Green at the next GMS panel update.Created: 7 Nov 2022, 12:09 p.m. | Last Modified: 7 Nov 2022, 12:09 p.m.
Panel Version: 2.152
Childhood-onset spasticity is a key feature of the neurodevelopmental phenotype caused by pathogenic monoallelic variants in the CTNNB1 gene. Over 15 unrelated cases reported in literature, almost all of which developed spasticity which significantly affected ability to walk.
Sources: LiteratureCreated: 7 Nov 2022, 12:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Publications
Tag Q4_22_promote_green was removed from gene: CTNNB1.
Source Expert Review Green was added to CTNNB1. Source NHS GMS was added to CTNNB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ctnnb1 has been classified as Amber List (Moderate Evidence).
gene: CTNNB1 was added gene: CTNNB1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q4_22_promote_green tags were added to gene: CTNNB1. Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNB1 were set to 23033978; 24614104; 25326669; 26968164; 27915094; 34321325 Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 Review for gene: CTNNB1 was set to GREEN