AP1B1

adaptor related protein complex 1 beta 1 subunit
OMIM: 600157, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber AP1B1 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature ClinGen Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green
Amber AP1B1 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781
Amber AP1B1 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green
Amber AP1B1 in Corneal dystrophy Level 2: Ophthalmology Version 4.7 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781
Green AP1B1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MEDNIK-like Syndrome
Amber AP1B1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature ClinGen Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green
Amber AP1B1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green