LOXHD1:Ensemblv90

lipoxygenase homology domains 1
OMIM: 613072, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green LOXHD1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079

Green LOXHD1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079

Green LOXHD1 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079

Green LOXHD1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive

Red LOXHD1 in Prepair 1000+


Level 2: Screening
Version 2.15

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Deafness, autosomal recessive 77 (MIM#613079)

Green LOXHD1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079
Tags
  • deafness

Green LOXHD1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079

Green LOXHD1 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079

Red LOXHD1 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 77 (MIM#613079)

Green LOXHD1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 77, MIM# 613079
Tags
  • deafness