Deafness_IsolatedAndComplex
Gene: HAAO
PMID 33942433: three additional families.Created: 9 May 2022, 10:19 p.m. | Last Modified: 9 May 2022, 10:19 p.m.
Panel Version: 1.130
Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data.
Sources: Expert listCreated: 31 Dec 2019, 6:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
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 has been classified as Amber List (Moderate Evidence).
Gene: haao has been classified as Amber List (Moderate Evidence).
gene: HAAO was added gene: HAAO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list 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 Review for gene: HAAO was set to AMBER