LRP12

LDL receptor related protein 12
Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber LRP12 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Motor axonal neuropathy Tags STR
Amber LRP12 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Amyotrophic lateral sclerosis 28, OMIM:620452 amyotrophic lateral sclerosis 28, MONDO:0957538 Oculopharyngodistal myopathy 1, OMIM:164310 oculopharyngodistal myopathy 1, MONDO:0020793 Tags STR
Amber LRP12_CGG STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Motor axonal neuropathy Tags STR NGS Not Validated
Amber LRP12_CGG STR in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CMT2, HMN Tags STR NGS Not Validated