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  3. TSPEAR
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Ectodermal Dysplasia

Gene: TSPEAR

Green List (high evidence)
TSPEAR (thrombospondin type laminin G domain and EAR repeats)
EnsemblGeneIds (GRCh38): ENSG00000175894
EnsemblGeneIds (GRCh37): ENSG00000175894
OMIM: 612920, Gene2Phenotype
TSPEAR is in 6 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays.
Sources: Expert list
Created: 31 Jul 2020, 12:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180

Publications

Created: 31 Jul 2020, 12:22 a.m.

Panel version: Imported from Mendeliome panel version Imported from Hair disorders panel version 0.29

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Association with isolated deafness is DISPUTED.
Created: 24 Apr 2020, 7:12 a.m. | Last Modified: 24 Apr 2020, 7:12 a.m.
Panel Version: 0.2620
Created: 24 Apr 2020, 7:12 a.m.
Last Modified: 24 Apr 2020, 7:12 a.m.
Panel version: Imported from Mendeliome panel version 0.2620

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families in 2 papers. Functional study supported LoF. (PMIDs: 27736875, 30046887)
Created: 24 Apr 2020, 6:28 a.m. | Last Modified: 24 Apr 2020, 6:39 a.m.
Panel Version: 0.2611

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Apr 2020, 6:28 a.m.
Last Modified: 24 Apr 2020, 6:39 a.m.
Panel version: Imported from Mendeliome panel version 0.2611

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
OMIM
612920
Clinvar variants
Variants in TSPEAR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tspear has been classified as Green List (High Evidence).

21 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSPEAR were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TSPEAR was added gene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180