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Intellectual disability syndromic and non-syndromic v0.4434 | TCTN1 | Zornitza Stark Marked gene: TCTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.4434 | TCTN1 | Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.4434 | TCTN1 | Zornitza Stark Classified gene: TCTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.4434 | TCTN1 | Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.4429 | TCTN1 |
Ain Roesley gene: TCTN1 was added gene: TCTN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546; 34980503 Phenotypes for gene: TCTN1 were set to Joubert syndrome 13, MIM# 614173; MONDO:0013608 Penetrance for gene: TCTN1 were set to Complete Review for gene: TCTN1 was set to GREEN gene: TCTN1 was marked as current diagnostic Added comment: Rare cause of JBS, at least 6 families reported, mouse model. ID/developmental delay described in at least 3 of them Sources: Literature |