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  2. Childhood onset hereditary spastic paraplegia
  3. CTNNB1

Childhood onset hereditary spastic paraplegia

Gene: CTNNB1

Green List (high evidence)
CTNNB1 (catenin beta 1)
EnsemblGeneIds (GRCh38): ENSG00000168036
EnsemblGeneIds (GRCh37): ENSG00000168036
OMIM: 116806, Gene2Phenotype
CTNNB1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 10 Oct 2023, 5:14 p.m.
Last Modified: 10 Oct 2023, 5:15 p.m.
Panel version: 4.20

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 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

Created: 7 Nov 2022, 12:09 p.m.

Panel version: 2.151

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
OMIM
116806
Clinvar variants
Variants in CTNNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: CTNNB1.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

7 Nov 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ctnnb1 has been classified as Amber List (Moderate Evidence).

7 Nov 2022, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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