Structural eye disease
Gene: KIF7Comment 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.Created: 9 Sep 2022, 11:30 p.m. | Last Modified: 9 Sep 2022, 11:30 p.m.
Panel Version: 1.142
Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIF7 mutations (patient also had biallelic mutations in KIAA0556)Created: 2 Sep 2022, 11:09 a.m. | Last Modified: 2 Sep 2022, 11:09 a.m.
Panel Version: 1.132
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 12
Publications
Mode of pathogenicity
Other
Dafinger: one family with coloboma - heterozygous in-frame deletion inherited from unaffected mother, patient also has two TMEM67 mutations that segregateCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12); 200990
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Dafinger: one family with coloboma - heterozygous in-frame deletion inherited from unaffected mother, patient also has two TMEM67 mutations that segregateCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990
Publications
Gene: kif7 has been classified as Red List (Low Evidence).
Publications for gene: KIF7 were set to 21633164
Source NHS GMS was added to KIF7. Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7
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