NRDC

nardilysin convertase
OMIM: 602651, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber NRDC in Optic neuropathy Level 2: Ophthalmology Version 5.54 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly, MONDO:0001149 neurodevelopmental disorder, MONDO:0700092 Optic neuropathy, HP:0001138 Tags Q1_26_promote_green
Amber NRDC in Arthrogryposis Level 2: Neurology Version 9.32 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber NRDC in Severe microcephaly Level 2: Neurology Version 8.41 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly, MONDO:0001149 neurodevelopmental disorder, MONDO:0700092 Optic neuropathy, HP:0001138 Tags Q1_26_promote_green
Amber NRDC in Early onset or syndromic epilepsy Level 2: Neurology Version 8.170 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 Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber NRDC in Intellectual disability Level 2: Developmental disorders Version 9.355 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 neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green