TSPEAR

thrombospondin type laminin G domain and EAR repeats
OMIM: 612920, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TSPEAR in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180 Selective tooth agenesis-10 (STHAG10), MIM#620173
Red TSPEAR in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 98, MIM#614861 Tags disputed
Green TSPEAR in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	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
Green TSPEAR in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180
Red TSPEAR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Sensorineural deafness
Red TSPEAR in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural deafness