G6PC1

glucose-6-phosphatase catalytic subunit 1
OMIM: 613742, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green G6PC1 in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ia, MIM# 232200
Tags
  • treatable

Green G6PC1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ia, MIM# 232200
Tags
  • treatable
  • new gene name

Green G6PC1 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
  • Glycogen storage disease Ia, 232200 (3)

Green G6PC1 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
  • Glycogen storage disease Ia

Green G6PC1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease Ia, 232200 (3)

Green G6PC1 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
  • BeginNGS
Phenotypes
  • Glycogen storage disease Ia, MIM#232200
Tags
  • treatable
  • metabolic

Green G6PC1 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease Ia (MIM# 232200)