Genomics England

GNPTAB

N-acetylglucosamine-1-phosphate transferase alpha and beta subunits

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Craniosynostosis R-numbers: R100 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 252500, Mucolipidosis II alpha/beta(I cell disease) 252500
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOLIPIDOSIS TYPE II 252500, MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOLIPIDOSIS TYPE II, MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucolipidosis, Type II, Mucolipidosis, Type III Alpha/Beta, Mucolipidosis III alpha/beta, Mucolipidosis II, I-cell disease (Other lysosomal disorders), Mucolipidosis II alpha/beta
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOLIPIDOSIS TYPE II (MLII)
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucolipidosis II alpha/beta OMIM:252500, mucolipidosis type II MONDO:0009650, Mucolipidosis III alpha/beta OMIM:252600, mucolipidosis type III MONDO:0018931
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucolipidosis III alpha/beta 252600, Mucolipidosis II alpha/beta 252500