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Intellectual disability syndromic and non-syndromic

Gene: KIF7

Green List (high evidence)

KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 19 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene disease association with affected individuals presenting with ID along with other dysmorphic features.
Created: 23 Oct 2024, 6:08 a.m. | Last Modified: 23 Oct 2024, 6:08 a.m.
Panel Version: 0.6549

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990

Publications

History Filter Activity

23 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif7 has been classified as Green List (High Evidence).

23 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF7 were changed from acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990 to acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990

23 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF7 were changed from to acrocallosal syndrome MONDO:0008708; KIF7-related ciliopathy MONDO:0800463; Joubert syndrome 12 MIM#200990

23 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF7 were set to

23 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF7 was added gene: KIF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF7 was set to Unknown