Epidermolysis bullosa and congenital skin fragility
Gene: CD151EnsemblGeneIds (GRCh38): ENSG00000177697
EnsemblGeneIds (GRCh37): ENSG00000177697
OMIM: 602243, Gene2Phenotype
CD151 is in 7 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
[Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosaCreated: 24 Mar 2021, 1:34 p.m. | Last Modified: 24 Mar 2021, 1:34 p.m.
Panel Version: 1.43
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:CD151; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Homozygous CD151 variant reported in patient in PMID:29138120.Created: 7 Jan 2019, 4:26 p.m.
John McGrath (email correspondance) recommends a Green rating as there is now a published case report showing skin fragility. PMID:29138120 (Vahidnezhad et al, 2018) report a patient with a homozygous splice site variant in CD151. Clinical examination of the proband revealed features of Kindler syndrome (KS) with phenotypic overlap with some forms of junctional EB, generalized intermediate, including facial freckling, poikiloderma and atrophy of the skin and acrogeria of the backs of the hands on the sun-exposed areas.Created: 7 Jan 2019, 4:22 p.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: currently there is not enough evidence to support this gene is involved in EBCreated: 21 Apr 2017, 12:17 p.m.
John McGrath (King's College London)
This was discussed at the consensus meeting - and it was decided that the data were not proven and therefore not classifiable as EB.Created: 19 Nov 2015, 3:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
- OMIM
- 602243
- Clinvar variants
- Variants in CD151
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Amber was added to CD151. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CD151 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CD151 was added gene: CD151 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: CD151 was set to Phenotypes for gene: CD151 were set to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057