Genomics England
GMS Panels
Panels
Genes and Entities

PTCH1

patched 1
OMIM: 601309
PanelMode of inheritanceDetails
11 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gorlin syndrome, BCC
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
109400, Gorlin syndrome
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 7, OMIM:610828, Basal cell nevus syndrome 1, OMIM:109400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BASAL CELL NEVUS SYNDROME 109400, HOLOPROSENCEPHALY-7 610828
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 7, OMIM:610828
Green
in Holoprosencephaly - NOT chromosomal
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
Signed-off version 5.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 7, OMIM:610828
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal cell nevus syndrome, OMIM:109400
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7, OMIM:610828
Green
in Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
R-numbers: R214
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
metopic craniosynostosis
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7 (can include microphthalmia), 610828, Corneal opacification and other ocular anomalies, 269400