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| Structural eye disease v1.142 | KIF7 | Eleanor Williams Classified gene: KIF7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.142 | KIF7 | Eleanor Williams Gene: kif7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.141 | KIF7 | Eleanor Williams Publications for gene: KIF7 were set to 21633164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.132 | 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 Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.132 | KIF7 | Samantha Malka reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 32164589; Phenotypes: Joubert syndrome 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | KIF7 | Nicola Ragge reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: 21633164; Phenotypes: Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | KIF7 | Ivone Leong reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: 21633164; Phenotypes: Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | KIF7 |
Ivone Leong Source NHS GMS was added to KIF7. Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7 |
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| Structural eye disease v0.2 | KIF7 |
Ellen McDonagh gene: KIF7 was added gene: KIF7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome; Acrocallosal syndrome |
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