AP1B1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AP1B1 in Ichthyosis Level 2: Dermatological disorders Version 1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability enteropathy deafness ichthyosis keratoderma
Green AP1B1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150
Green AP1B1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150 Intellectual disability enteropathy deafness ichthyosis keratoderma
Green AP1B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability enteropathy deafness ichthyosis keratoderma
Amber AP1B1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150

5 panels