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  2. Ichthyosis
  3. AP1B1
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Ichthyosis

Gene: AP1B1

Green List (high evidence)
AP1B1 (adaptor related protein complex 1 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000100280
EnsemblGeneIds (GRCh37): ENSG00000100280
OMIM: 600157, Gene2Phenotype
AP1B1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Created: 31 Dec 2019, 4:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma

Publications

Created: 31 Dec 2019, 4:26 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • enteropathy
  • deafness
  • ichthyosis
  • keratoderma
OMIM
600157
Clinvar variants
Variants in AP1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap1b1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap1b1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP1B1 was added gene: AP1B1 was added to Ichthyosis_VCGS. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 31630788; 31630791 Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma Review for gene: AP1B1 was set to GREEN