Genomics England

FAT4

FAT atypical cadherin 4

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006, VAN MALDERGEM SYNDROME 615546
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features, Combined immunodeficiencies with associated or syndromic features
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006, Van Maldergem syndrome 2, 615546