RDH11

retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
OMIM: 607849, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber RDH11 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.13 Latest signed off version: v8.5 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Neurodevelopmental delay, HP:0012758 Juvenile cataract, HP:0001118 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, MONDO:0014495 Tags Q2_26_promote_green
Amber RDH11 in Malformations of cortical development Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Neurodevelopmental delay, HP:0012758 Juvenile cataract, HP:0001118 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, MONDO:0014495 Tags Q2_26_promote_green
Amber RDH11 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.18 Latest signed off version: v6.17 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Neurodevelopmental delay, HP:0012758 Juvenile cataract, HP:0001118 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, MONDO:0014495 Tags Q2_26_promote_green
Amber RDH11 in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Neurodevelopmental delay, HP:0012758 Juvenile cataract, HP:0001118 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, MONDO:0014495 Tags Q2_26_promote_green
Amber RDH11 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS RetNet Phenotypes ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 Neurodevelopmental delay, HP:0012758 Juvenile cataract, HP:0001118 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, MONDO:0014495 Tags Q2_26_promote_green