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| Joubert syndrome and other neurological ciliopathies v1.22 | TXNDC15 | Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.21 | TXNDC15 | Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.51 | TXNDC15 | Zornitza Stark Marked gene: TXNDC15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.51 | TXNDC15 | Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.51 | TXNDC15 | Zornitza Stark Classified gene: TXNDC15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.51 | TXNDC15 | Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | TXNDC15 |
Crystle Lee gene: TXNDC15 was added gene: TXNDC15 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 30851085; 27894351 Phenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: No OMIM number. Total of 4 families reported with supporting functional studies in ciliogenesis defects. Emerging MKS gene. PMID: 30851085; Ridnoi 2019: Chet variants identified in a prenatally diagnosed case of Meckel-Gruber syndrome. PMID: 27894351; Shaheen 2016: Reported 3 diff hom variants in 3 consang families with Meckel-Gruber syndrome.Functional studies performed showing defects in ciliogenesis Sources: Expert Review |
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