Miscellaneous Metabolic Disorders
Gene: HAAO
PMID 33942433: three additional families.Created: 9 May 2022, 10:20 p.m. | Last Modified: 9 May 2022, 10:20 p.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660
Publications
2 unrelated cases reported with homozygous variants from consanguineous families, and a supporting mouse model.
Sources: NHS GMSCreated: 5 Feb 2021, 1:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency
Publications
Publications for gene: HAAO were set to 28792876
Gene: haao has been classified as Green List (High Evidence).
Gene: haao has been classified as Green List (High Evidence).
gene: HAAO was added gene: HAAO was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 28792876 Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency Review for gene: HAAO was set to GREEN