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Schwannomatosis v0.16 DGCR8 Andrew Fennell reviewed gene: DGCR8: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 34821987; Phenotypes: Early-onset multinodular goiter and schwannomatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Schwannomatosis v0.16 Zornitza Stark HPO terms changed from to Schwannoma, HP:0100008
List of related panels changed from to Schwannoma; HP:0100008
Schwannomatosis v0.15 DGCR8 Zornitza Stark Marked gene: DGCR8 as ready
Schwannomatosis v0.15 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Schwannomatosis v0.15 DGCR8 Zornitza Stark gene: DGCR8 was added
gene: DGCR8 was added to Schwannomatosis. Sources: Literature
Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGCR8 were set to 31805011
Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis
Review for gene: DGCR8 was set to RED
Added comment: A germline missense variant segregates in one family with autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. (PMID:31805011)
Sources: Literature
Schwannomatosis v0.14 SUFU Bryony Thompson Marked gene: SUFU as ready
Schwannomatosis v0.14 SUFU Bryony Thompson Gene: sufu has been classified as Amber List (Moderate Evidence).
Schwannomatosis v0.14 SUFU Bryony Thompson Classified gene: SUFU as Amber List (moderate evidence)
Schwannomatosis v0.14 SUFU Bryony Thompson Gene: sufu has been classified as Amber List (Moderate Evidence).
Schwannomatosis v0.13 SUFU Bryony Thompson gene: SUFU was added
gene: SUFU was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to 22958902; 31485359; 22829011
Phenotypes for gene: SUFU were set to {Meningioma, familial, susceptibility to} MIM#607174; Basal cell nevus syndrome MIM#109400
Review for gene: SUFU was set to AMBER
Added comment: At least 3 unrelated families have meningiomas as a feature of the condition. Two of the families are also diagnosed with basal cell nevus/Gorlin's syndrome.
Sources: Expert list
Schwannomatosis v0.12 SMARCE1 Bryony Thompson Classified gene: SMARCE1 as Green List (high evidence)
Schwannomatosis v0.12 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Schwannomatosis v0.11 SMARCE1 Bryony Thompson gene: SMARCE1 was added
gene: SMARCE1 was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCE1 were set to {Meningioma, familial, susceptibility to} MIM#607174
Schwannomatosis v0.10 PRKAR1A Bryony Thompson Classified gene: PRKAR1A as Green List (high evidence)
Schwannomatosis v0.10 PRKAR1A Bryony Thompson Gene: prkar1a has been classified as Green List (High Evidence).
Schwannomatosis v0.9 PRKAR1A Bryony Thompson gene: PRKAR1A was added
gene: PRKAR1A was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex, type 1 MIM#160980
Schwannomatosis v0.8 NF1 Bryony Thompson Deleted their review
Schwannomatosis v0.8 NF2 Bryony Thompson Deleted their review
Schwannomatosis v0.8 NF2 Bryony Thompson Classified gene: NF2 as Green List (high evidence)
Schwannomatosis v0.8 NF2 Bryony Thompson Gene: nf2 has been classified as Green List (High Evidence).
Schwannomatosis v0.7 NF2 Bryony Thompson gene: NF2 was added
gene: NF2 was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis, type 2 MIM#101000
Review for gene: NF2 was set to GREEN
Added comment: Sources: Expert list
Schwannomatosis v0.6 NF1 Bryony Thompson Classified gene: NF1 as Green List (high evidence)
Schwannomatosis v0.6 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Schwannomatosis v0.5 NF1 Bryony Thompson gene: NF1 was added
gene: NF1 was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 MIM#162200
Review for gene: NF1 was set to GREEN
Added comment: Sources: Expert list
Schwannomatosis v0.4 SMARCB1 Bryony Thompson Marked gene: SMARCB1 as ready
Schwannomatosis v0.4 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Schwannomatosis v0.4 SMARCB1 Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence)
Schwannomatosis v0.4 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Schwannomatosis v0.3 SMARCB1 Bryony Thompson gene: SMARCB1 was added
gene: SMARCB1 was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCB1 were set to 17357086; 18285426
Phenotypes for gene: SMARCB1 were set to {Schwannomatosis-1, susceptibility to} MIM#162091
Review for gene: SMARCB1 was set to GREEN
Added comment: At least 8 cases/families with a monoallelic germline variant reported with schwannomatosis.
Sources: Expert list
Schwannomatosis v0.2 LZTR1 Bryony Thompson Classified gene: LZTR1 as Green List (high evidence)
Schwannomatosis v0.2 LZTR1 Bryony Thompson Gene: lztr1 has been classified as Green List (High Evidence).
Schwannomatosis v0.1 LZTR1 Bryony Thompson gene: LZTR1 was added
gene: LZTR1 was added to Schwannomatosis. Sources: Expert list
Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LZTR1 were set to 24362817
Phenotypes for gene: LZTR1 were set to {Schwannomatosis-2, susceptibility to} MIM#615670
Review for gene: LZTR1 was set to GREEN
Added comment: A study identified 16 cases with 15 different germline heterozygous variants. The variants segregated with the disorder in all available affected first-degree relatives, although 4 asymptomatic parents also carried the mutation, indicating incomplete penetrance. Classified as tumour suppressor.
Sources: Expert list
Schwannomatosis v0.0 Bryony Thompson Added Panel Schwannomatosis
Set panel types to: Royal Melbourne Hospital; Rare Disease