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| Structural eye disease v1.142 | KIF7 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as red. Although a second case with a variant in KIF7 is reported in Niceta et al (2020) the patient also has a homozygous variant in KIAA0556. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.140 | KIAA0556 | Eleanor Williams Classified gene: KIAA0556 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.140 | KIAA0556 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red as one case reported with structural eye phenotype but the individual also had a biallelic variant in KIF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.140 | KIAA0556 | Eleanor Williams Gene: kiaa0556 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.139 | KIAA0556 | Eleanor Williams Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.138 | KIAA0556 | Eleanor Williams Publications for gene: KIAA0556 were set to PMID: 32164589 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.132 | KIAA0556 |
Samantha Malka gene: KIAA0556 was added gene: KIAA0556 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to PMID: 32164589 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26 Penetrance for gene: KIAA0556 were set to Complete Mode of pathogenicity for gene: KIAA0556 was set to Other Review for gene: KIAA0556 was set to RED Added comment: Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIAA0556 mutations (patient also had biallelic mutations in KIF7) Sources: Literature |
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| Structural eye disease v1.132 | KIF7 | Samantha Malka commented on gene: KIF7: Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIF7 mutations (patient also had biallelic mutations in KIAA0556) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||