Cerebellar hypoplasia

Gene: POMT1

Green List (high evidence)

POMT1 (protein O-mannosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 22 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670


History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

POMT1 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

14 Nov 2016, Gel status: 0


Alice Gardham (Genomics England)

POMT1 was created by agardham