TSPEAR

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TSPEAR in Mendeliome Version 1.2302	3 reviews	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 1.210	1 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	3 reviews	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	3 reviews	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	0 reviews	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 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural deafness