Severe microcephaly

Gene: CTNNB1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: > 3 cases of CTNNB1 variations presenting with (amongst other phenotypes) microcephaly (see PMID:25326669 and PMID:26968164 for examples). CTNNB1 is also on the ID panel.
2 Mar 2017, 10:31 a.m.
Added CTNNB1 to panel as suggested by Arianna Tucci based on papers including PMID:25326669 (Kuechler et al., 2015): In 16 individuals from 15 families with de novo LOF CTNNB1 mutations, 12 patients had microcephaly (typically −2 to −4 SD).
2 Mar 2017, 10:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary microcephaly
  • Mental retardation, autosomal dominant 19, 615075
OMIM
116806
Clinvar variants
Variants in CTNNB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CTNNB1 were set to 25326669; 26968164

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CTNNB1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CTNNB1 was created by rfoulger