Cerebellar hypoplasia
Gene: CLP1
Probable DD gene on G2P. Mutations identified in 9 Turkish families. Offered as diagnostic test on UKGTNCreated: 3 Nov 2016, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pontocerebellar hypoplasia type 10, 615803
Publications
Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar Hypoplasia to Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Tag founder-effect tag was added to gene: CLP1.
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
CLP1 was added to Cerebellar hypoplasiapanel. Source: UKGTN
CLP1 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
CLP1 was created by helen.savage