Genomics England

PTEN

phosphatase and tensin homolog

Panel	Mode of inheritance	Details
Filter panels16 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cowden syndrome
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Glioma susceptibility 2}, 613028, Macrocephaly/autism syndrome, 605309, VATER association with macrocephaly and ventriculomegaly, 76950, {Prostate cancer, somatic}, 176807, {Meningioma}, 607174, Squamous cell carcinoma, head and neck, somatic, 275355, Prostate cancer, somatic}, 176807, Cowden Disease, Bannayan-Riley-Ruvalcaba syndrome, 153480, Malignant melanoma, somatic, 155600, Cowden syndrome 1, 158350, Endometrial carcinoma, somatic, 608089, Cowden Syndrome, Thyroid carcinoma, follicular, somatic, 188470, Cowden syndrome, Lhermitte-Duclos syndrome, 158350, PTEN hamartoma tumor syndrome, VATER association with macrocephaly and ventriculomegaly, 276950
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BANNAYAN-ZONANA SYNDROME 153480, COWDEN DISEASE 158350, MACROCEPHALY/AUTISM SYNDROME 605309, VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950, PROTEUS SYNDROME 176920, LHERMITTE-DUCLOS DISEASE 158350
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 1 158350, Lhermitte-Duclos syndrome, BANNAYAN-RILEY-RUVALCABA SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Macrocephaly/autism syndrome, OMIM:605309
Green in Inherited polyposis and early onset colorectal cancer - germline testing R-numbers: R211 Signed-off version 2.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cowden syndrome 1, OMIM:158350, Lhermitte-Duclos syndrome, OMIM:158350, Cowden syndrome 1, MONDO:0008021
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355, PROTEUS SYNDROME
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 1 OMIM:158350, Lhermitte-Duclos syndrome OMIM:158350, Cowden syndrome 1 MONDO:0008021, Macrocephaly/autism syndrome OMIM:605309, macrocephaly-autism syndrome MONDO:0011537
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 1, OMIM:158350, Lhermitte-Duclos disease, OMIM:158350, Macrocephaly/autism syndrome, OMIM:605309
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Epidermal naevi, Melanoma
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 Cowden syndrome 1, OMIM:158350, Lhermitte-Duclos syndrome, OMIM:158350, Macrocephaly/autism syndrome, OMIM:605309
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Bannayan-Riley-Ruvalcaba syndrome, COWDEN SYNDROME 1, Melanoma, Cowden syndrome, CWS1, Epidermal naevi
Green in PTEN Hamartoma Tumor Syndrome R-numbers: R213 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Bannayan-Riley-Ruvalcaba syndrome, 153480, BRRS, Bannayan-Riley-Ruvalcaba syndrome,153480, PHTS, PTEN Hamartoma Tumor Syndrome, Macrocephaly and Overgrowth Syndromes, megalencephaly, macrocephaly, Bannayan Riley Ruvalcalba Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Cowden syndrome, Proteus-like syndrome, hemihypertrophy
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 1, OMIM:158350