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Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.19 RAB3GAP2 Sarah Leigh Source Expert Review Green was added to RAB3GAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.23 RAB3GAP2 Achchuthan Shanmugasundram Publications for gene: RAB3GAP2 were set to 24482476
Childhood onset hereditary spastic paraplegia v3.22 RAB3GAP2 Achchuthan Shanmugasundram changed review comment from: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six ion them under 10 years old.

This gene has been associated with phenotypes in both OMIM and Gene2Phenotype.; to: PMID:32740904 reported 9 cases identified with biallelic variants in RAB3GAP2 gene. Seven of them were diagnosed with Martsolf syndrome 1 (MIM #212720) and the remaining two with Warburg micro syndrome 2 (MIM #614225). All of them presented with spasticity (either paraparesis or quadriparesis) as one of the clinical manifestations. The age of patients ranged from 1 year 4 months to 14 years old, with six of them under 10 years old.

This gene has been associated with phenotypes in both OMIM and Gene2Phenotype.
Childhood onset hereditary spastic paraplegia v3.22 RAB3GAP2 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.
Childhood onset hereditary spastic paraplegia v3.22 RAB3GAP2 Achchuthan Shanmugasundram Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v3.22 RAB3GAP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) available for this gene to be considered for a green rating in the next major review.
Childhood onset hereditary spastic paraplegia v3.22 RAB3GAP2 Achchuthan Shanmugasundram Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v3.21 RAB3GAP2 Achchuthan Shanmugasundram Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome 1, OMIM:212720 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Childhood onset hereditary spastic paraplegia v3.20 RAB3GAP2 Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32740904; Phenotypes: Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.118 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to Martsolf syndrome 1, OMIM:212720
Childhood onset hereditary spastic paraplegia v2.15 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32376645; Phenotypes: Martsolf syndrome, MIM# 212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.76 RAB3GAP2 Louise Daugherty Source NHS GMS was added to RAB3GAP2.
Childhood onset hereditary spastic paraplegia v1.75 RAB3GAP2 Louise Daugherty Source Yorkshire and North East GLH was added to RAB3GAP2.
Childhood onset hereditary spastic paraplegia v1.74 RAB3GAP2 Nick Beauchamp reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.3 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia for gene: RAB3GAP2
Childhood onset hereditary spastic paraplegia v0.85 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Childhood onset hereditary spastic paraplegia v0.85 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.6 RAB3GAP2 Sarah Leigh gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB3GAP2 were set to 24482476
Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia