Microcephaly
Gene: CTNNB1
PMID: 32039639;
-1x proband with familial exudative vitreoretinopathy (FEVR) and microcephaly. Head circumference <1st centile
PMID: 25326669
- 15 families with 16 affecteds. de novo PTVs
- included 5 patients from published literature
- 10 out of 20 presented with microcephaly, head circumference < -3 SD
Sources: LiteratureCreated: 2 Sep 2020, 11:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with spastic diplegia and visual defects (MIM#615075); Exudative vitreoretinopathy 7 (MIM#617572)
Publications
Gene: ctnnb1 has been classified as Green List (High Evidence).
Gene: ctnnb1 has been classified as Green List (High Evidence).
gene: CTNNB1 was added gene: CTNNB1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNB1 were set to 25326669; 32039639 Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects (MIM#615075); Exudative vitreoretinopathy 7 (MIM#617572) Penetrance for gene: CTNNB1 were set to unknown Review for gene: CTNNB1 was set to GREEN