KIAA1109

KIAA1109
OMIM: 611565, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KIAA1109 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Alkuraya-Kucinskas syndrome, OMIM:617822 Tags new-gene-name
Red KIAA1109 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Alkuraya-Kucinskas syndrome, 617822 Brain atrophy, Dandy Walker and Contractures Tags new-gene-name
Green KIAA1109 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Alkuraya-Kucinskas syndrome 617822 Tags new-gene-name
Green KIAA1109 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Brain atrophy, Dandy Walker and Contractures Alkuraya-Kucinskas syndrome, 617822 Tags new-gene-name
Green KIAA1109 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Brain atrophy, Dandy Walker and Contractures Tags new-gene-name
Green KIAA1109 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Alkuraya-Kucinskas syndrome 617822 seizures Tags new-gene-name
Green KIAA1109 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Expert Review Green Expert Review Green Literature Phenotypes Brain atrophy, Dandy Walker and Contractures Alkuraya-Kucinskas syndrome,617822 Tags new-gene-name
Green KIAA1109 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Alkuraya-Kucinskas syndrome Tags new-gene-name