LRRC45

leucine rich repeat containing 45
Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber LRRC45 in Intellectual disability Level 2: Developmental disorders Version 9.285 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 Expert Review Amber Other Phenotypes ciliopathy, MONDO:0005308 Abnormal brain morphology, HP:0012443 neurodevelopmental disorder, MONDO:0700092 Tags Q4_25_promote_green
Amber LRRC45 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ciliopathy, MONDO:0005308 Abnormal brain morphology, HP:0012443 neurodevelopmental disorder, MONDO:0700092
Amber LRRC45 in Neurological ciliopathies Level 2: Neurology Version 6.13 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ciliopathy, MONDO:0005308 Abnormal brain morphology, HP:0012443 neurodevelopmental disorder, MONDO:0700092 Tags Q4_25_promote_green