PTCH1

22 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 22 panels
Red PTCH1 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	Unknown	Sources Expert Review Red Literature Phenotypes risk of HSCR HSCR susceptibility
Red PTCH1 in Familial Neural Tube Defects Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Holoprosencephaly
Green PTCH1 in Genodermatoses with malignancies Level 3: Skin Level 2: Tumour syndromes Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Basal cell carcinoma, somatic, OMIM:605462 Gorlin syndrome
Green PTCH1 in Familial Tumours Syndromes of the central & peripheral Nervous system Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Brain, CNS, and PNS Cancer
Green PTCH1 in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.42	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Gorlin syndrome
Green PTCH1 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Basal cell nevus syndrome, OMIM:109400
Green PTCH1 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert List Expert Review Green Expert list Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Gorlin syndrome
Red PTCH1 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Holoprosencephaly 7, OMIM:610828
Red PTCH1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Basal cell nevus syndrome 1, OMIM:109400
Green PTCH1 in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Basal cell carcinoma, somatic, OMIM:605462 Gorlin syndrome Tags mosaicism somatic
No list PTCH1 in Multiple monogenic benign skin tumours Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Basal cell naevus (Gorlin) syndrome Tags curated_removed
Green PTCH1 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Gorlin syndrome
Green PTCH1 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Gorlin syndrome
Green PTCH1 in Holoprosencephaly - NOT chromosomal Level 2: Neurology Version 5.7 Latest signed off version: v5.1 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Other Phenotypes Holoprosencephaly 7, OMIM:610828
Green PTCH1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Holoprosencephaly 7, OMIM:610828
Green PTCH1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes metopic craniosynostosis
Green PTCH1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BASAL CELL NEVUS SYNDROME 109400 HOLOPROSENCEPHALY-7 610828
Green PTCH1 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Holoprosencephaly 7, OMIM:610828 Basal cell nevus syndrome 1, OMIM:109400
Red PTCH1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Wessex and West Midlands GLH Phenotypes Holoprosencephaly 7, OMIM:610828
Green PTCH1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly 7, OMIM:610828
Green PTCH1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Holoprosencephaly 7 (can include microphthalmia), 610828 Corneal opacification and other ocular anomalies, 269400
Green PTCH1 in Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome Level 2: Inherited cancer Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Basal cell nevus syndrome 1, OMIM:109400 basal cell nevus syndrome 1, MONDO:0958174

PTCH1

22 panels

Red PTCH1 in Familial Hirschsprung Disease

Sources

Phenotypes

Red PTCH1 in Familial Neural Tube Defects

Sources

Phenotypes

Green PTCH1 in Genodermatoses with malignancies

Sources

Phenotypes

Green PTCH1 in Familial Tumours Syndromes of the central & peripheral Nervous system

Sources

Phenotypes

Green PTCH1 in Adult solid tumours for rare disease

Sources

Phenotypes

Green PTCH1 in Hydrocephalus

Sources

Phenotypes

Green PTCH1 in Childhood solid tumours

Sources

Phenotypes

Red PTCH1 in Pituitary hormone deficiency

Sources

Phenotypes

Red PTCH1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PTCH1 in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

Tags

No list PTCH1 in Multiple monogenic benign skin tumours

Sources

Phenotypes

Tags

Green PTCH1 in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green PTCH1 in Adult solid tumours cancer susceptibility

Sources

Phenotypes

Green PTCH1 in Holoprosencephaly - NOT chromosomal

Sources

Phenotypes

Green PTCH1 in Fetal anomalies

Sources

Phenotypes

Green PTCH1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Sources

Phenotypes

Green PTCH1 in DDG2P

Sources

Phenotypes

Green PTCH1 in Clefting

Sources

Phenotypes

Red PTCH1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green PTCH1 in Intellectual disability

Sources

Phenotypes

Green PTCH1 in Structural eye disease

Sources

Phenotypes

Green PTCH1 in Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome

Sources

Phenotypes