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Mendeliome

Gene: PKHD1L1

Green List (high evidence)

PKHD1L1 (PKHD1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000205038
EnsemblGeneIds (GRCh37): ENSG00000205038
OMIM: 607843, Gene2Phenotype
PKHD1L1 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

At least 4 individuals from unrelated families with sensorineural hearing loss (SNHL) (2 of the reported probands were from consanguineous parents).
The individuals are either homozygous or compound heterozygous for mutations in PKHD1L1 (missense, frameshift and nonsense mutations have been reported).

In vitro functional assessment as well as a mini-gene assay of Gly605Arg was conducted. The mini-gene assay on Gly605Arg showed that exon skipping occurs resulting in an in-frame deletion of 48 aa. Both studies didn't use a positive control however loss of function or disruption to protein stability is the speculated mechanism of disease.
Sources: Other
Created: 1 May 2024, 3:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
non syndromic hearing loss (MONDO:0020678)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • non syndromic hearing loss (MONDO:0020678)
OMIM
607843
Clinvar variants
Variants in PKHD1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkhd1l1 has been classified as Green List (High Evidence).

2 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PKHD1L1 were set to

2 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkhd1l1 has been classified as Green List (High Evidence).

1 May 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: PKHD1L1 was added gene: PKHD1L1 was added to Mendeliome. Sources: Other Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1L1 were set to non syndromic hearing loss (MONDO:0020678) Review for gene: PKHD1L1 was set to GREEN