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| Skeletal dysplasia v3.5 | ANO5 | Eleanor Williams Tag Q1_22_MOI was removed from gene: ANO5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | ANO5 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | ANO5 | Eleanor Williams commented on gene: ANO5: The mode of inheritance of this gene has been updated toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.4 | ANO5 | Eleanor Williams Mode of inheritance for gene ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.190 | ANO5 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: ANO5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.62 | ANO5 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance at BIALLELIC just now, but it should be changed to MONOALLELIC at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.62 | ANO5 | Eleanor Williams Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.61 | ANO5 | Eleanor Williams Phenotypes for gene: ANO5 were changed from Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; skeletal dysplasias; Disproportionate Short Stature to Gnathodiaphyseal dysplasia OMIM:166260; gnathodiaphyseal dysplasia MONDO:0008151; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; skeletal dysplasias; Disproportionate Short Stature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.60 | ANO5 | Eleanor Williams Publications for gene: ANO5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.59 | ANO5 | Eleanor Williams Added comment: Comment on mode of pathogenicity: The missense variants seen in patients with Gnathodiaphyseal dysplasia are thought to act by gain-of-function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.59 | ANO5 | Eleanor Williams Mode of pathogenicity for gene: ANO5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.58 | ANO5 |
Eleanor Williams edited their review of gene: ANO5: Added comment: Associated with Gnathodiaphyseal dysplasia #166260 in OMIM with an autosomal dominant mode of inheritance. Two types of muscular dystrophy are listed with a autosomal recessive mode of inheritance. ANO5 is also known as GDD1 and TMEM16E. PMID: 15124103 - Tsutsumi et al 2004 - identified two heterozygous missense mutations (C356R and C356G) in ANO5/GDD1 in probands from a Japanese and an African American family with gnathodiaphyseal dysplasia. PMID: 23047743 - Marconi et al 2013 - sequenced the ANO5 gene in a large Italian family with gnathodiaphyseal dysplasia. They identified a novel heterozygous missense mutation c.1538C-T, T513I. The mutation segregates with the disease in the family. PMID: 32112655 - Di Zanni et al 2020 - used HEK293‐based functional assays to investigate the effects of a series of amino acid exchanges, related either to MD or GDD, at the level of the TMEM16E protein. They find a loss of TMEM16E activity for those associated with MD, and a gain‐of‐function phenotype for seven GDD‐causing mutations.; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 15124103, 23047743, 32112655; Changed phenotypes: Gnathodiaphyseal dysplasia OMIM:166260, gnathodiaphyseal dysplasia MONDO:0008151; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Skeletal dysplasia v2.9 | ANO5 | Zornitza Stark reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32112655; Phenotypes: Gnathodiaphyseal dysplasia, MIM# 166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | ANO5 | Eleanor Williams Added phenotypes Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Disproportionate Short Stature for gene: ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ANO5 | Tracy Lester reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gnatodiaphyseal dysplasia, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Disproportionate Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | ANO5 | Eleanor Williams reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | ANO5 |
Eleanor Williams Source NHS GMS was added to ANO5. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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