Arthrogryposis
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
2 reviews
Alice Gardham (Genomics England)
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Clefting
- Structural eye disease
- Likely inborn error of metabolism
- Cerebral vascular malformations
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POMT1 was added to Arthrogryposispanel. Source: UKGTN POMT1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory POMT1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen POMT1 was added to Arthrogryposispanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)POMT1 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)POMT1 was created by ellenmcdonagh