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  3. KIF7
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Glaucoma (developmental)

Gene: KIF7

Red List (low evidence)
KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Dafinger: one family with coloboma - heterozygous in-frame deletion inherited from unaffected mother, patient also has two TMEM67 mutations that segregate
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12); 200990

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 segregate
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.38

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KIF7 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory