OLA1

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber OLA1 in Severe microcephaly Level 2: Neurology Version 8.43 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523 neurodevelopmental disorder,MONDO:0700092 microcephaly, MONDO:0001149 Tags Q2_26_promote_green
Amber OLA1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.8 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523 neurodevelopmental disorder,MONDO:0700092 microcephaly, MONDO:0001149 Tags Q2_26_promote_green
Amber OLA1 in Intellectual disability Level 2: Developmental disorders Version 9.368 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 Literature Phenotypes Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523 neurodevelopmental disorder,MONDO:0700092 microcephaly, MONDO:0001149 Tags Q2_26_promote_green