Mosaic skin disorders - deep sequencing
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.
Panel Version: 2.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene on this panel added by Tom Cullup (GOSH). Multiple cases have been reported where linear and segmental basal cell carcinomas developed due to cutaneous mosaicism of a heterozygous variant in the PTCH1 gene (PMID: 23746055; 27658957; 30520020; 32298489; 35235545; 36002246). These variants may not be picked up via other panels for the phenotype and therefore this gene should be promoted to Green at then next GMS panel update.Created: 22 Aug 2023, 4:04 p.m. | Last Modified: 22 Aug 2023, 4:04 p.m.
Panel Version: 2.25
Tom Cullup (Great Ormond Street Hospital)
Well established cause of Gorlin / BCN syndrome. Need to add to mosaic panel in order that mosaic patients / presentations can be accurately diagnosed - current existing indication (R214) does not include low-level variant analysis.
Sources: Expert listCreated: 9 May 2023, 11:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gorlin syndrome / basal cell naevus syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Basal cell nevus syndrome 1, OMIM:109400
- Basal cell carcinoma, somatic, OMIM:605462
- Gorlin syndrome
- Tags
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Clefting
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: PTCH1. Tag Q3_23_NHS_review was removed from gene: PTCH1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to PTCH1. Source NHS GMS was added to PTCH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PTCH1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag mosaicism tag was added to gene: PTCH1. Tag somatic tag was added to gene: PTCH1.
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: PTCH1. Tag Q3_23_NHS_review tag was added to gene: PTCH1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from Gorlin syndrome / basal cell naevus syndrome to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: PTCH1 was added gene: PTCH1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Gorlin syndrome / basal cell naevus syndrome Penetrance for gene: PTCH1 were set to unknown Review for gene: PTCH1 was set to GREEN