ANO5

anoctamin 5
OMIM: 608662, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ANO5 in Distal myopathies Level 2: Neurology Version 6.18 Latest signed off version: v6.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 3, 613319
Green ANO5 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.17 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307
Red ANO5 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 3, OMIM:613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
Red ANO5 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 Limb-Girdle Muscular Dystrophy, Recessive
Green ANO5 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.39 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy
Green ANO5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Gnathodiaphyseal dysplasia OMIM:166260 gnathodiaphyseal dysplasia MONDO:0008151 Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias skeletal dysplasias Disproportionate Short Stature
Red ANO5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MIYOSHI MUSCULAR DYSTROPHY TYPE 3 GNATHODIAPHYSEAL DYSPLASIA
Red ANO5 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias Disproportionate Short Stature
Green ANO5 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
Amber ANO5 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319
Green ANO5 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Miyoshi muscular dystrophy 3, OMIM:613319