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Childhood onset hereditary spastic paraplegia v5.3 RETREG1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RETREG1.
Tag Q4_23_NHS_review was removed from gene: RETREG1.
Childhood onset hereditary spastic paraplegia v5.3 RETREG1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following 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 v5.3 RETREG1 Achchuthan Shanmugasundram commented on gene: RETREG1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.2 RETREG1 Achchuthan Shanmugasundram Source Expert Review Green was added to RETREG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.31 RETREG1 Achchuthan Shanmugasundram Classified gene: RETREG1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.31 RETREG1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of RETREG1 gene with spastic paraplegia and hence this gene can be promoted to green rating in the next GMS review.
Childhood onset hereditary spastic paraplegia v4.31 RETREG1 Achchuthan Shanmugasundram Gene: retreg1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.30 RETREG1 Achchuthan Shanmugasundram Phenotypes for gene: RETREG1 were changed from to Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115
Childhood onset hereditary spastic paraplegia v4.29 RETREG1 Achchuthan Shanmugasundram Publications for gene: RETREG1 were set to 24327336
Childhood onset hereditary spastic paraplegia v4.28 RETREG1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RETREG1.
Tag Q4_23_NHS_review tag was added to gene: RETREG1.
Childhood onset hereditary spastic paraplegia v4.28 RETREG1 Achchuthan Shanmugasundram changed review comment from: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).

PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter); to: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).

PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter).

Gavin Ryan also mentioned in his review that LoF homozygous variant in this gene was identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness.
Childhood onset hereditary spastic paraplegia v4.28 RETREG1 Achchuthan Shanmugasundram commented on gene: RETREG1: PMID:24327336 - Spastic gait was reported in two siblings of Turkish ancestry presenting with hereditary sensory and autonomic neuropathy and identified with biallelic RETREG1 variant (c.826delA).

PMID:30643655 - Mutilating sensory loss and spastic paraplegia were reported in two affected individuals from two unrelated Saudi families identified with nonsense RETREG1 variant (c.926 C>G/ p.Ser309Ter)
Childhood onset hereditary spastic paraplegia v4.28 RETREG1 Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24327336, 30643655; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.28 RETREG1 Gavin Ryan gene: RETREG1 was added
gene: RETREG1 was added to Childhood onset hereditary spastic paraplegia. Sources: NHS GMS
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 24327336
Penetrance for gene: RETREG1 were set to unknown
Review for gene: RETREG1 was set to GREEN
Added comment: Aydinlar et al identified individuals with hereditary neuropathy caused by variant in this gene who also had spasticity. Further, LoF homozygous variant in this gene identified via Diagnostic Discovery in 100K and GMS WGS patient with features of Progressive spasticity, facial hypotonia, dysarthria, and fatiguable weakness.
Sources: NHS GMS