Genomics England

EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADAMS-OLIVER SYNDROME
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adams-Oliver syndrome 4 OMIM:615297, Adams-Oliver syndrome 4 MONDO:0014124
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADAMS OLIVER SYNDROME
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADAMS OLIVER SYNDROME
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adams-Oliver syndrome 4 OMIM:615297, Adams-Oliver syndrome 4 MONDO:0014124
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adams Oliver syndrome 4, 615297
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adams Oliver syndrome 4