Previous symbols: C21orf29, DFNB98. Aliases: MGC11251, TSP-EAR.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Recessive Nonsyndromic Hearing Loss 98 | disputed germline loss of function |
mechanism: Homozygous Founding TSPEAR Frameshift Variant
variant: TSPEAR NM_144991.3:c.1728del (p.Lys577SerfsTer37), 2023 report; TSPEAR NM_144991.3:c.1870G>T (p.Glu624Ter); TSPEAR NM_144991.3:c.365G>A (p.Arg122Gln); TSPEAR NM_144991.3:c.539A>T (p.Asp180Val); TSPEAR NM_144991.3:c.668C>T (p.Ser223Leu); TSPEAR c.1566G>A (p.Pro522=); TSPEAR c.1676_1677delAT (p.Tyr559CysfsTer134); TSPEAR c.1726G>T+c.1728delC (founding frameshift) and 2 more
|
| Tooth Agenesis | causative germline |
mechanism: Enamel Knot Signaling Disruption
subtype: TSPEAR-related
scoped to subtype: TSPEAR-related
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Disputed 2024-10-31 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.