Newborns additional phenotypes panel 1
Gene: PMM2EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Internal inclusion list onlyCreated: 26 Sep 2024, 3:36 p.m. | Last Modified: 25 Oct 2024, 10:45 a.m.
Panel Version: 0.100
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID: 36726472 (18 families reported in total)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
PMID: 28373276 found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous orin transwithPMM2coding mutations. NB recessive coding mutations in this gene are associated with CDG1A which we do not want to identify.Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.25
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Polycystic kidney disease with hyperinsulinemic hypoglycemia
- Tags
- OMIM
- 601785
- Clinvar variants
- Variants in PMM2
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Likely inborn error of metabolism
- Primary lymphoedema
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Congenital disorders of glycosylation
- Fetal hydrops
- Congenital hyperinsulinism
- Renal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Proteinuric renal disease
- Fetal anomalies
- DDG2P
- Neurological ciliopathies
- Hereditary neuropathy
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: PMM2.
Added Tag
Mafalda Gomes (Genomics England Curator)Tag internal_inclusion_list_only tag was added to gene: PMM2.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Polycystic kidney disease with hyperinsulinemic hypoglycemia for gene: PMM2
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to PMM2. Added phenotypes Polycystic kidney disease with hyperinsulinemic hypoglycemia for gene: PMM2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: PMM2 was added gene: PMM2 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Polycystic kidney disease with hyperinsulinemic hypoglycemia Mode of pathogenicity for gene: PMM2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments