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Auditory Neuropathy v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Auditory Neuropathy v1.0 Bryony Thompson promoted panel to version 1.0
Auditory Neuropathy v0.26 FXN Bryony Thompson Marked gene: FXN as ready
Auditory Neuropathy v0.26 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Auditory Neuropathy v0.26 FXN Bryony Thompson Classified gene: FXN as Green List (high evidence)
Auditory Neuropathy v0.26 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Auditory Neuropathy v0.25 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Auditory Neuropathy. Sources: Literature
STR tags were added to gene: FXN.
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 18515321; 25791504
Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300
Review for gene: FXN was set to GREEN
Added comment: Sensorineural hearing loss occurs in ~10% of individuals with FRDA. Auditory neuropathy has been confirmed in at least 4 individuals homozygous for the FXN repeat expansion. Pathogenic SNVs or small indels on one allele with the repeat expansion on the second allele, have been reported as the cause FRDA in ~5% of cases.
Sources: Literature
Auditory Neuropathy v0.24 ABHD12 Bryony Thompson edited their review of gene: ABHD12: Changed publications: 31393079, 23297193
Auditory Neuropathy v0.24 ABHD12 Bryony Thompson changed review comment from: Hearing loss is a feature of the condition, but appears only a single case has confirmed auditory neuropathy as a feature of the condition and a homozygous truncating variant.
Sources: Literature; to: Hearing loss is a feature of the condition, However, auditory neuropathy has been confirmed as a feature of the condition in a single case with homozygous truncating variant. Impaired auditory signalling is present in a null mouse model.
Sources: Literature
Auditory Neuropathy v0.24 ABHD12 Bryony Thompson Classified gene: ABHD12 as Amber List (moderate evidence)
Auditory Neuropathy v0.24 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.23 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 31393079
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Syndromic auditory neuropathy spectrum disorder
Review for gene: ABHD12 was set to AMBER
Added comment: Hearing loss is a feature of the condition, but appears only a single case has confirmed auditory neuropathy as a feature of the condition and a homozygous truncating variant.
Sources: Literature
Auditory Neuropathy v0.22 TRPV4 Bryony Thompson Marked gene: TRPV4 as ready
Auditory Neuropathy v0.22 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.22 TRPV4 Bryony Thompson Classified gene: TRPV4 as Amber List (moderate evidence)
Auditory Neuropathy v0.22 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.21 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV4 were set to 31393079; 24789864; 22675077; 31468327; 20460441; 15925108
Phenotypes for gene: TRPV4 were set to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Review for gene: TRPV4 was set to AMBER
Added comment: A single case with a missense (Arg232Cys) reported with auditory neuropathy as a feature of the condition (PMID: 31393079). A knockout mouse model (Trpv4 -/-) demonstrated larger auditory brain response shifts to wildtype, and delayed-onset hearing loss (PMID: 15925108).
Hearing loss has been reported as a feature of the phenotype in multiple cases, but unknown if due to auditory neuropathy. Hearing loss was reported in 4/17 cases with childhood-onset motor neuropathy (PMID: 24789864). A single individual with hearing loss as a feature of the condition has been reported in two unrelated families segregating a missense variant (R186Q, R316C) with CMT2C (PMID: 22675077, 31468327). Another missense (R269H), segregated with hearing loss and SMA in 4 affected individuals in a family (PMID: 20460441).
Sources: Literature
Auditory Neuropathy v0.20 TMEM126A Bryony Thompson Marked gene: TMEM126A as ready
Auditory Neuropathy v0.20 TMEM126A Bryony Thompson Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.20 TMEM126A Bryony Thompson Classified gene: TMEM126A as Amber List (moderate evidence)
Auditory Neuropathy v0.20 TMEM126A Bryony Thompson Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.19 TMEM126A Bryony Thompson reviewed gene: TMEM126A: Rating: AMBER; Mode of pathogenicity: None; Publications: 20405026, 31119195; Phenotypes: Optic atrophy 7 MIM#612989, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Auditory Neuropathy v0.19 TIMM8A Bryony Thompson Marked gene: TIMM8A as ready
Auditory Neuropathy v0.19 TIMM8A Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence).
Auditory Neuropathy v0.19 TIMM8A Bryony Thompson Classified gene: TIMM8A as Green List (high evidence)
Auditory Neuropathy v0.19 TIMM8A Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence).
Auditory Neuropathy v0.18 TIMM8A Bryony Thompson reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31446702, 30634948, 17471106; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Auditory Neuropathy v0.18 SPTBN4 Bryony Thompson Marked gene: SPTBN4 as ready
Auditory Neuropathy v0.18 SPTBN4 Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.18 SPTBN4 Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence)
Auditory Neuropathy v0.18 SPTBN4 Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.17 SPTBN4 Bryony Thompson reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32672909, 29861105; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Auditory Neuropathy v0.17 PMP22 Bryony Thompson Marked gene: PMP22 as ready
Auditory Neuropathy v0.17 PMP22 Bryony Thompson Gene: pmp22 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.17 PMP22 Bryony Thompson Classified gene: PMP22 as Green List (high evidence)
Auditory Neuropathy v0.17 PMP22 Bryony Thompson Gene: pmp22 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.16 PMP22 Bryony Thompson edited their review of gene: PMP22: Set current diagnostic: yes
Auditory Neuropathy v0.16 PMP22 Bryony Thompson reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11920834, 31393079, 12578939, 10330345, 11835375; Phenotypes: Charcot-Marie Tooth disease type 1, Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Auditory Neuropathy v0.16 PCDH9 Bryony Thompson Marked gene: PCDH9 as ready
Auditory Neuropathy v0.16 PCDH9 Bryony Thompson Gene: pcdh9 has been classified as Red List (Low Evidence).
Auditory Neuropathy v0.16 PCDH9 Bryony Thompson reviewed gene: PCDH9: Rating: RED; Mode of pathogenicity: None; Publications: 19353688; Phenotypes: Autosomal dominant auditory neuropathy 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Auditory Neuropathy v0.16 NEFL Bryony Thompson Marked gene: NEFL as ready
Auditory Neuropathy v0.16 NEFL Bryony Thompson Gene: nefl has been classified as Green List (High Evidence).
Auditory Neuropathy v0.16 NEFL Bryony Thompson Classified gene: NEFL as Green List (high evidence)
Auditory Neuropathy v0.16 NEFL Bryony Thompson Gene: nefl has been classified as Green List (High Evidence).
Auditory Neuropathy v0.15 NEFL Bryony Thompson reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19158810, 18023247, 17052987; Phenotypes: Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Auditory Neuropathy v0.15 NDRG1 Bryony Thompson Marked gene: NDRG1 as ready
Auditory Neuropathy v0.15 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.15 NDRG1 Bryony Thompson Classified gene: NDRG1 as Green List (high evidence)
Auditory Neuropathy v0.15 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.14 NDRG1 Bryony Thompson reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29724652, 10831399, 12872253, 24136616; Phenotypes: Charcot-Marie-Tooth disease, type 4D MIM#601455, Syndromic auditory neuropathy spectrum disorder, Hereditary motor and sensory neuropathy Lom; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Auditory Neuropathy v0.14 AIFM1 Bryony Thompson Publications for gene: AIFM1 were set to 21176974
Auditory Neuropathy v0.13 MPZ Bryony Thompson Marked gene: MPZ as ready
Auditory Neuropathy v0.13 MPZ Bryony Thompson Gene: mpz has been classified as Red List (Low Evidence).
Auditory Neuropathy v0.13 MPZ Bryony Thompson Publications for gene: MPZ were set to 21176974
Auditory Neuropathy v0.12 MPZ Bryony Thompson reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: 12845552, 12805115; Phenotypes: Syndromic auditory neuropathy spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Auditory Neuropathy v0.12 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Auditory Neuropathy v0.12 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.12 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Auditory Neuropathy v0.12 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.11 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 32128519; 20206331; 20920669; 29961494
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530; Syndromic auditory neuropathy spectrum disorder
Review for gene: SLC52A3 was set to GREEN
Added comment: Hearing loss is a prominent feature of the condition, and has been confirmed to be due to auditory neuropathy spectrum disorder in at least 4 cases.
Sources: Literature
Auditory Neuropathy v0.10 SLC52A2 Bryony Thompson Marked gene: SLC52A2 as ready
Auditory Neuropathy v0.10 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.10 SLC52A2 Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence)
Auditory Neuropathy v0.10 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.9 SLC52A2 Bryony Thompson edited their review of gene: SLC52A2: Set current diagnostic: yes
Auditory Neuropathy v0.9 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Auditory Neuropathy. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 26918385; 26092362
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Syndromic auditory neuropathy spectrum disorder
Review for gene: SLC52A2 was set to GREEN
Added comment: Hearing loss is a prominent feature in this condition and is due to auditory neuropathy spectrum disorder.
Sources: Expert list
Auditory Neuropathy v0.8 DIAPH3 Bryony Thompson Marked gene: DIAPH3 as ready
Auditory Neuropathy v0.8 DIAPH3 Bryony Thompson Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.8 GJB1 Bryony Thompson Marked gene: GJB1 as ready
Auditory Neuropathy v0.8 GJB1 Bryony Thompson Gene: gjb1 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.8 GJB1 Bryony Thompson Classified gene: GJB1 as Green List (high evidence)
Auditory Neuropathy v0.8 GJB1 Bryony Thompson Gene: gjb1 has been classified as Green List (High Evidence).
Auditory Neuropathy v0.7 GJB1 Bryony Thompson reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28448691, 20193560, 21282593, 10102421; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Auditory Neuropathy v0.7 DIAPH3 Bryony Thompson Classified gene: DIAPH3 as Amber List (moderate evidence)
Auditory Neuropathy v0.7 DIAPH3 Bryony Thompson Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy v0.5 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Auditory Neuropathy. Sources: Expert list
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.3 FDXR Bryony Thompson Deleted their review
Auditory Neuropathy v0.3 FDXR Bryony Thompson Deleted their comment
Auditory Neuropathy v0.3 FDXR Bryony Thompson Classified gene: FDXR as Green List (high evidence)
Auditory Neuropathy v0.3 FDXR Bryony Thompson Gene: fdxr has been classified as Green List (High Evidence).
Auditory Neuropathy v0.2 FDXR Bryony Thompson gene: FDXR was added
gene: FDXR was added to Auditory Neuropathy. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 28965846
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717
Review for gene: FDXR was set to GREEN
Added comment: Sources: Expert list
Auditory Neuropathy v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Auditory Neuropathy v0.0 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TIMM8A were set to 21176974
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, MIM# 304700; Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 TMEM126A Bryony Thompson gene: TMEM126A was added
gene: TMEM126A was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 21176974
Phenotypes for gene: TMEM126A were set to Optic atrophy 7 MIM#612989; Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA1 were set to 21176974
Phenotypes for gene: OPA1 were set to Syndromic auditory neuropathy spectrum disorder; Optic atrophy plus syndrome, MIM# 125250
Auditory Neuropathy v0.0 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GJB1 were set to 21176974
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MIM#302800; Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDRG1 were set to 21176974
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEFL were set to 21176974
Phenotypes for gene: NEFL were set to Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPZ were set to 21176974
Phenotypes for gene: MPZ were set to Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMP22 were set to 21176974
Phenotypes for gene: PMP22 were set to Syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 PCDH9 Bryony Thompson gene: PCDH9 was added
gene: PCDH9 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: PCDH9 was set to Unknown
Publications for gene: PCDH9 were set to 21176974
Phenotypes for gene: PCDH9 were set to Non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 21176974
Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5 MIM#300614; non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJB2 were set to 21176974
Phenotypes for gene: GJB2 were set to Deafness, autosomal recessive 1A MIM#220290; non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 DFNB59 Bryony Thompson gene: DFNB59 was added
gene: DFNB59 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DFNB59 were set to 21176974
Phenotypes for gene: DFNB59 were set to Deafness, autosomal recessive 59 MIM#610220; non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 OTOF Bryony Thompson gene: OTOF was added
gene: OTOF was added to Auditory Neuropathy. Sources: Literature,Expert Review Green
Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTOF were set to 21176974
Phenotypes for gene: OTOF were set to Auditory neuropathy, autosomal recessive, 1 MIM#601071; non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 DIAPH3 Bryony Thompson gene: DIAPH3 was added
gene: DIAPH3 was added to Auditory Neuropathy. Sources: Literature
Mode of inheritance for gene: DIAPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH3 were set to 21176974
Phenotypes for gene: DIAPH3 were set to Auditory neuropathy, autosomal dominant, 1 MIM#609129; non-syndromic auditory neuropathy spectrum disorder
Auditory Neuropathy v0.0 Bryony Thompson Added panel Auditory Neuropathy