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Childhood onset hereditary spastic paraplegia v5.3 AMFR Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AMFR.
Childhood onset hereditary spastic paraplegia v5.3 AMFR 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 AMFR Achchuthan Shanmugasundram commented on gene: AMFR: 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 AMFR Achchuthan Shanmugasundram Source NHS GMS was added to AMFR.
Source Expert Review Green was added to AMFR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.13 AMFR Achchuthan Shanmugasundram changed review comment from: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia.
Sources: Literature; to: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia.

This gene has been associated with relevant phenotypes in OMIM (MIM #620379), but not in Gene2Phenotype.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.13 AMFR Achchuthan Shanmugasundram Classified gene: AMFR as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.13 AMFR Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next GMS review.
Childhood onset hereditary spastic paraplegia v4.13 AMFR Achchuthan Shanmugasundram Gene: amfr has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.12 AMFR Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AMFR.
Childhood onset hereditary spastic paraplegia v4.12 AMFR Achchuthan Shanmugasundram gene: AMFR was added
gene: AMFR was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMFR were set to 37119330
Phenotypes for gene: AMFR were set to Spastic paraplegia 89, autosomal recessive, OMIM:620379
Review for gene: AMFR was set to GREEN
Added comment: PMID:37119330 - 20 individuals from 8 unrelated consanguineous families of various origins were identified with autosomal recessive variants in AMFR gene. All patients had early disease onset (<3 years), including motor delay, lower limb hyperreflexia and spastic paraplegia that match the typical phenotypes of hereditary spastic paraplegia.
Sources: Literature