MPI

mannose phosphate isomerase
OMIM: 154550, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green MPI in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257
Green MPI in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257
Amber MPI in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579
Green MPI in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257
Red MPI in Hyperinsulinism Level 2: Endocrine disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579
Green MPI in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257
Red MPI in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257
Red MPI in Lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list
Green MPI in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ib, 602579 (3)
Green MPI in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation 1b
Green MPI in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579
Red MPI in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes MPI-CDG, MONDO:0011257 Congenital disorder of glycosylation, type Ib, OMIM:602579
Green MPI in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579
Green MPI in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags metabolic
Green MPI in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes MPI-CDG MONDO:0011257 Congenital disorder of glycosylation, type Ib, MIM# 602579
Green MPI in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579