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Mendeliome v1.2156 FMN1 Bryony Thompson Publications for gene: FMN1 were set to 20610440; 19383632; 15202026
Mendeliome v1.2155 FMN1 Bryony Thompson Phenotypes for gene: FMN1 were changed from oligosyndactyly; radioulnar synostosis; hearing loss; renal defects to Hearing loss disorder MONDO:0005365
Mendeliome v1.2154 FMN1 Bryony Thompson edited their review of gene: FMN1: Added comment: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned); Changed publications: 20610440, 19383632, 15202026, 36928819; Changed phenotypes: Hearing loss disorder MONDO:0005365
Mendeliome v1.343 SMN1 Zornitza Stark Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Mendeliome v0.9219 FMN1 Bryony Thompson Marked gene: FMN1 as ready
Mendeliome v0.9219 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9219 FMN1 Bryony Thompson Classified gene: FMN1 as Amber List (moderate evidence)
Mendeliome v0.9219 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9218 FMN1 Bryony Thompson gene: FMN1 was added
gene: FMN1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: FMN1.
Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMN1 were set to 20610440; 19383632; 15202026
Phenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects
Review for gene: FMN1 was set to AMBER
Added comment: A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Sources: Literature
Mendeliome v0.7612 SMN1 Zornitza Stark changed review comment from: Well established gene-disease association. Deletions common.; to: Well established gene-disease association. Deletions common. High sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.
Mendeliome v0.4820 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Mendeliome v0.4820 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Mendeliome v0.4820 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from to Spinal muscular atrophy-1, MIM# 253300
Mendeliome v0.4819 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Mendeliome v0.4818 SMN1 Zornitza Stark Mode of inheritance for gene: SMN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4817 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Mendeliome v0.4817 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4807 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
Mendeliome v0.2646 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.2645 MN1 Zornitza Stark edited their review of gene: MN1: Changed phenotypes: CEBALID syndrome, MIM#618774, Intellectual disability, dysmophic features, rhombencephalosynapsis
Mendeliome v0.422 MN1 Zornitza Stark Marked gene: MN1 as ready
Mendeliome v0.422 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Mendeliome v0.422 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.421 MN1 Zornitza Stark Publications for gene: MN1 were set to
Mendeliome v0.420 MN1 Zornitza Stark Mode of pathogenicity for gene: MN1 was changed from to Other
Mendeliome v0.419 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMN1 was set to Unknown
Mendeliome v0.0 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MN1 was set to Unknown