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Childhood onset hereditary spastic paraplegia v4.18 HPDL Sarah Leigh Deleted their comment
Childhood onset hereditary spastic paraplegia v4.18 HPDL Sarah Leigh Deleted their comment
Childhood onset hereditary spastic paraplegia v2.137 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Tag Q2_21_NHS_review was removed from gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.130 HPDL Sarah Leigh commented on gene: HPDL
Childhood onset hereditary spastic paraplegia v2.129 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.121 HPDL Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.34 HPDL Sarah Leigh Publications for gene: HPDL were set to 32707086; 33188300
Childhood onset hereditary spastic paraplegia v2.28 HPDL Cristina Dias reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32707086, 33188300; Phenotypes: microcephaly, spastic paraplegia, seizures, demyelinating neuropathy, regression, developmental delay, chronic progression, movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.28 HPDL Arina Puzriakova Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Spastic paraplegia 83, autosomal recessive, OMIM:619027; Spastic paraplegia 83, autosomal recessive, MONDO:0033614
Childhood onset hereditary spastic paraplegia v2.27 HPDL Arina Puzriakova Publications for gene: HPDL were set to PMID: 32707086; 33188300
Childhood onset hereditary spastic paraplegia v2.26 HPDL Arina Puzriakova Classified gene: HPDL as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.26 HPDL Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). There is enough evidence for this gene to be rated Green at the next major review.
Childhood onset hereditary spastic paraplegia v2.26 HPDL Arina Puzriakova Gene: hpdl has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.25 HPDL Arina Puzriakova Tag Q2_21_rating tag was added to gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.25 HPDL Arina Puzriakova reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, Spastic paraplegia 83, autosomal recessive, OMIM:619027, Spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.25 HPDL Evan Reid gene: HPDL was added
gene: HPDL was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to PMID: 32707086; 33188300
Phenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy to juvenile onset progressive spastic paraplegia.
Sources: Literature