Genomics England

AKT serine/threonine kinase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PROTEUS SYNDROME 176920
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PROTEUS SYNDROME
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteus syndrome, somatic, OMIM:176920, Cowden syndrome 6, OMIM:615109
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteus syndrome
Green in Neurological segmental overgrowth Component of the following Super Panels: - Cerebral malformation Signed-off version 2.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteus syndrome, somatic, OMIM:176920, Macrocephaly and Overgrowth Syndromes, Segmental Overgrowth Syndrome, Proteus syndrome
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteus syndrome, 176920, Proteus syndrome, somatic,176920, Macrocephaly and Overgrowth Syndromes, Proteus syndrome, Segmental Overgrowth Syndrome