ANO5

anoctamin 5
OMIM: 608662, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ANO5 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gnathodiaphyseal dysplasia MIM#166260 Miyoshi muscular dystrophy 3 MIM#613319 Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307
Green ANO5 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders; Endocrine disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Gnathodiaphyseal dysplasia MIM#166260
Green ANO5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Osteogenesis Imperfecta and Decreased Bone Density Gnatodiaphyseal dysplasia skeletal dysplasias
Green ANO5 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319
Green ANO5 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307
Red ANO5 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Gnathodiaphyseal dysplasia Muscular dystrophy, limb-girdle, type 2L
Red ANO5 in Fetal anomalies Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Gnathodiaphyseal dysplasia, MIM# 166260 Miyoshi muscular dystrophy 3, MIM# 613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307
Red ANO5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, type 2L Gnathodiaphyseal dysplasia
Green ANO5 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Gnathodiaphyseal dysplasia MIM#166260