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  2. Intestinal failure or congenital diarrhoea
  3. AP1B1
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Intestinal failure or congenital diarrhoea

Gene: AP1B1

Amber List (moderate evidence)
AP1B1 (adaptor related protein complex 1 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000100280
EnsemblGeneIds (GRCh37): ENSG00000100280
OMIM: 600157, Gene2Phenotype
AP1B1 is in 7 panels

1 review

Ida Ertmanska (Genomics England Curator)

I don't know

Comment on list classification: There are 3 individuals from 2 families reported in literature presenting with neonatal onset enteropathy and/or chronic diarrhea (PMIDs:32969855; 31630791). The individuals were diagnosed with Keratitis-ichthyosis-deafness syndrome and harboured biallelic variants in AP1B1. Several other individuals with biallelic AP1B1 variants did not present with diarrhea. Hence, this gene should be rated Amber for Intestinal failure or congenital diarrhoea.

AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).
This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).
Created: 17 Oct 2025, 3:48 p.m. | Last Modified: 17 Oct 2025, 4:27 p.m.
Panel Version: 3.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781

Publications

Created: 17 Oct 2025, 3:48 p.m.
Last Modified: 17 Oct 2025, 4:27 p.m.
Panel version: 3.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150
  • KID syndrome, MONDO:0018781
OMIM
600157
Clinvar variants
Variants in AP1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ap1b1 has been classified as Amber List (Moderate Evidence).

17 Oct 2025, Gel status: 0

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

Ida Ertmanska (Genomics England Curator)

gene: AP1B1 was added gene: AP1B1 was added to Intestinal failure or congenital diarrhoea. Sources: Literature Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to 32969855; 31630791 Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781 Review for gene: AP1B1 was set to AMBER