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  2. Liver Failure_Paediatric
  3. YKT6
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Liver Failure_Paediatric

Gene: YKT6

Amber List (moderate evidence)
YKT6 (YKT6 v-SNARE homolog)
EnsemblGeneIds (GRCh38): ENSG00000106636
EnsemblGeneIds (GRCh37): ENSG00000106636
OMIM: 606209, Gene2Phenotype
YKT6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] exhibited normal prenatal course followed by failure to thrive, developmental delay and progressive liver disease. Haplotype analysis identified a shared homozygous region flanking the variant, suggesting a common ancestry. The third individual homozygous for YKT6 [NM_006555.3:c.191A>G p.(Tyr64Cys)] exhibited neurodevelopmental disorders and optic atrophy. Supportive functional data in Drosophila. Amber rating due to homozygous missense variants and founder effect in two of the families.
Sources: Literature
Created: 4 Apr 2024, 9:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic disease, MONDO:0002254, YKT6-related

Publications

Created: 4 Apr 2024, 9:06 p.m.

Panel version: 1.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, YKT6-related
OMIM
606209
Clinvar variants
Variants in YKT6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ykt6 has been classified as Amber List (Moderate Evidence).

4 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ykt6 has been classified as Amber List (Moderate Evidence).

4 Apr 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YKT6 was added gene: YKT6 was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: YKT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YKT6 were set to 38522068 Phenotypes for gene: YKT6 were set to Syndromic disease, MONDO:0002254, YKT6-related Review for gene: YKT6 was set to AMBER