Activity

Filter

Cancel
Date Panel Item Activity
2074 actions
Childhood onset hereditary spastic paraplegia v4.43 ACBD6 Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)
Childhood onset hereditary spastic paraplegia v4.43 ACBD6 Arina Puzriakova Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Childhood onset hereditary spastic paraplegia v4.42 RTN2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are sufficient number of cases with biallelic variants and lower limb spasticity, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Childhood onset hereditary spastic paraplegia v4.42 RTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.41 RTN2 Achchuthan Shanmugasundram Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, OMIM:604805; distal hereditary motor neuropathy, MONDO:0018894; Lower limb spasticity, HP:0002061
Childhood onset hereditary spastic paraplegia v4.40 RTN2 Achchuthan Shanmugasundram Publications for gene: RTN2 were set to 22232211; 24123792; 28362824
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: RTN2.
Tag Q2_24_NHS_review tag was added to gene: RTN2.
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Achchuthan Shanmugasundram reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Nour Elkhateeb reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38527963; Phenotypes: Weakness in the distal upper and lower limbs, Lower limb spasticity, Hyperreflexia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.39 HMBS Achchuthan Shanmugasundram Classified gene: HMBS as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.39 HMBS Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with spastic paraparesis. Hence, this gene can be promoted to green rating in the next GMS review.
Childhood onset hereditary spastic paraplegia v4.39 HMBS Achchuthan Shanmugasundram Gene: hmbs has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.38 HMBS Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: HMBS.
Childhood onset hereditary spastic paraplegia v4.38 HMBS Achchuthan Shanmugasundram gene: HMBS was added
gene: HMBS was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMBS were set to 27558376; 34089223
Phenotypes for gene: HMBS were set to Leukoencephalopathy, HP:0002352; hereditary spastic paraplegia, MONDO:0019064
Review for gene: HMBS was set to GREEN
Added comment: PMID:27558376 reported three siblings with compound heterozygous missense HMBS variants (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln) and a disease characterised by childhood-onset slowly progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy, and in 2 patients, optic atrophy as well as vertical gaze and convergence palsies and nystagmus. They had a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons, and cerebellar atrophy was present in advanced disease stages.

PMID:34089223 reported two patients from a family with homozygous variant (c.251C>A/ p.Ala84Asp) and another patient from a different family with the same compound heterozygous variants as the siblings reported in PMID:27558376 (c.500G>A/ p.Arg167Gln & c.674G>A/ p.Arg225Gln). All patients presented with slowly progressive spasticity, ataxia, peripheral neuropathy, with or without mild cognitive impairment, and/or ocular disease with onset in childhood or adolescence. Their brain MRIs show mainly confluent signal abnormalities in the periventricular and deep white matter and bilateral thalami. However, the onset of the disease was during childhood in individuals with the homozygous variant (7 years and late childhood), while the onset was at 22 years of age in the third individual with compound heterozygous variants.

Monoallelic variants in HMBS gene have been associated with acute intermittent porphyria (MIM #176000) in OMIM, but biallelic variants have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.37 ACBD6 Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.405
Childhood onset hereditary spastic paraplegia v4.37 ACBD6 Arina Puzriakova gene: ACBD6 was added
gene: ACBD6 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber
Q1_24_promote_green tags were added to gene: ACBD6.
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 21937992; 32108178; 36457943; 37951597
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: ACBD6 were set to Complete
Childhood onset hereditary spastic paraplegia v4.36 CLDN11 Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.

This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.36 RHOB Sarah Leigh Added comment: Comment on mode of pathogenicity: PMID: 32989326 reports RHOB p.Ser73Phe as being gain of function.
Childhood onset hereditary spastic paraplegia v4.36 RHOB Sarah Leigh Mode of pathogenicity for gene: RHOB was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Childhood onset hereditary spastic paraplegia v4.35 RHOB Sarah Leigh reviewed gene: RHOB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v4.35 RHOB Sarah Leigh Classified gene: RHOB as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.35 RHOB Sarah Leigh Gene: rhob has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.34 CLDN11 Achchuthan Shanmugasundram changed review comment from: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature; to: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including nystagmus and hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.34 CLDN11 Achchuthan Shanmugasundram Classified gene: CLDN11 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.34 CLDN11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.
Childhood onset hereditary spastic paraplegia v4.34 CLDN11 Achchuthan Shanmugasundram Gene: cldn11 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.33 CLDN11 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN11.
Childhood onset hereditary spastic paraplegia v4.33 CLDN11 Achchuthan Shanmugasundram gene: CLDN11 was added
gene: CLDN11 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN11 were set to 33313762
Phenotypes for gene: CLDN11 were set to Leukodystrophy, hypomyelinating, 22, OMIM:619328
Review for gene: CLDN11 was set to GREEN
Added comment: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.


This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes spasticity as one of the clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.32 ALK Achchuthan Shanmugasundram Classified gene: ALK as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.32 ALK Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:32989326 reported a large cohort study of cerebral palsy, where two patients were identified with monoallelic ALK variants and presented with spastic diplegia with mild tremor or spastic-dystonic diplegia. Hence, this gene can be rated amber with current evidence.
Childhood onset hereditary spastic paraplegia v4.32 ALK Achchuthan Shanmugasundram Gene: alk has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.31 ALK Achchuthan Shanmugasundram reviewed gene: ALK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: spastic diplegia, MONDO:0001167; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams commented on gene: SPG7
Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Childhood onset hereditary spastic paraplegia v4.26 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Childhood onset hereditary spastic paraplegia v4.26 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Childhood onset hereditary spastic paraplegia v4.26 CCDC82 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82.
Childhood onset hereditary spastic paraplegia v4.26 CCDC82 Achchuthan Shanmugasundram commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Childhood onset hereditary spastic paraplegia v4.26 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Childhood onset hereditary spastic paraplegia v4.26 SPTSSA Achchuthan Shanmugasundram Classified gene: SPTSSA as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.26 SPTSSA Achchuthan Shanmugasundram Gene: sptssa has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.25 SPTSSA Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are two unrelated cases (with the same variant) in support of the association of this gene with the autosomal dominant spastic paraplegia. Although there is only one case with the autosomal recessive condition, homozygous knockout mouse model is available in support of the association. Functional evidence is also available for both homozygous and heterozygous variants.

Hence, the rating should be amber and the MOI should be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Childhood onset hereditary spastic paraplegia v4.25 SPTSSA Achchuthan Shanmugasundram Mode of inheritance for gene: SPTSSA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram edited their review of gene: SPTSSA: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.

Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.
Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact (PMID:36718090).

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation (PMID:36718090).

Mice model with homozygous ssSPTa null mutants are embryonic lethal (PMID:33662400). However, homozygous knockout of the functional equivalent ssSPTb had early onset ataxia and died prematurely, with evidence of axonic degeneration (PMID:26438849).

This gene has already been associated with relevant phenotypes in OMIM (MIMs #620416 & #620417).
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram edited their review of gene: SPTSSA: Changed publications to: 26438849, 33662400, 36718090
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.
Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.

Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram gene: SPTSSA was added
gene: SPTSSA was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTSSA were set to 36718090
Phenotypes for gene: SPTSSA were set to Spastic paraplegia 90A, autosomal dominant, OMIM:620416; ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417
Review for gene: SPTSSA was set to AMBER
Added comment: Sources: Literature
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Tag Q4_23_promote_green tag was added to gene: PPFIBP1.
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,Expert Review Amber
Q2_23_promote_green tags were added to gene: PPFIBP1.
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 30214071
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Penetrance for gene: PPFIBP1 were set to Complete
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Deleted their comment
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Classified gene: HECTD4 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Gene: hectd4 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: HECTD4.
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.292
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova gene: HECTD4 was added
gene: HECTD4 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh Tag Q1_23_demote_red was removed from gene: WASHC5.
Tag Q1_23_expert_review was removed from gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: TECPR2.
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 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 SPTAN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: SPTAN1.
Childhood onset hereditary spastic paraplegia v4.20 SPTAN1 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 Sarah Leigh Tag Q1_23_promote_green was removed from gene: RNF170.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 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 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 MAG Sarah Leigh Tag Q1_23_promote_green was removed from gene: MAG.
Childhood onset hereditary spastic paraplegia v4.20 MAG 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 pseudoautosoma lfollowing NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh Tag Q4_22_promote_green was removed from gene: DDX3X.
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: CTNNB1.
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 Sarah Leigh reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 SPTAN1 Sarah Leigh reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v4.20 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 Sarah Leigh reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v4.20 MAG Sarah Leigh reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.19 WASHC5 Sarah Leigh Source Expert Review Red was added to WASHC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v4.19 TECPR2 Sarah Leigh Source Expert Review Green was added to TECPR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 SPTAN1 Sarah Leigh Source Expert Review Green was added to SPTAN1.
Source NHS GMS was added to SPTAN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 SPG7 Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.19 RNF170 Sarah Leigh Source Expert Review Green was added to RNF170.
Source NHS GMS was added to RNF170.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v4.19 MAG Sarah Leigh Source Expert Review Green was added to MAG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 DDX3X Sarah Leigh Source Expert Review Green was added to DDX3X.
Source NHS GMS was added to DDX3X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 CTNNB1 Sarah Leigh Source Expert Review Green was added to CTNNB1.
Source NHS GMS was added to CTNNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.18 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
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 v4.18 SPTAN1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, the age of onset of these cases were 33, 15 and 12 years (PMID:31515523; PMID:34526651). As the number of childhood-onset biallelic cases are not sufficient for green rating, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
Childhood onset hereditary spastic paraplegia v4.18 SPTAN1 Achchuthan Shanmugasundram Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v4.17 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Childhood onset hereditary spastic paraplegia v4.16 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Childhood onset hereditary spastic paraplegia v4.16 LETM1 Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), spasticity 8/15 (53%) (PMID: 36055214, figure 1c).
Childhood onset hereditary spastic paraplegia v4.16 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Childhood onset hereditary spastic paraplegia v4.16 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Childhood onset hereditary spastic paraplegia v4.15 UCHL1 Sarah Leigh Tag Q3_23_MOI tag was added to gene: UCHL1.
Childhood onset hereditary spastic paraplegia v4.15 UCHL1 Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 28007905, 35986737; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.15 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Childhood onset hereditary spastic paraplegia v4.14 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
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
Childhood onset hereditary spastic paraplegia v4.11 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641; 11555633; 33159930
Childhood onset hereditary spastic paraplegia v4.10 CCDC82 Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.10 CCDC82 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and hence this gene should be rated AMBER.
Childhood onset hereditary spastic paraplegia v4.10 CCDC82 Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.9 CCDC82 Achchuthan Shanmugasundram gene: CCDC82 was added
gene: CCDC82 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC82 were set to 35118659; 35373332
Phenotypes for gene: CCDC82 were set to neurodevelopmental disorder, MONDO:0700092; hereditary spastic paraplegia, MONDO:0019064
Review for gene: CCDC82 was set to AMBER
Added comment: PMID: 35118659 reported two siblings presenting with global global developmental delay (last evaluation at 4 years and 9 months) and spasticity. They also had a common history of infantile spasms with the elder developing GTC convulsions with spontaneous resolution and both presented with microcephaly (<-2 and <-3SD). They harboured homozygous variant c.535C>T ( p.Arg179Ter).

PMID: 35373332 reported a 21 years old male who presented with features included short stature, intellectual disability, spastic paraparesis (at the age of 3 years). Gelastic seizures were suspected but not confirmed (repeated normal EEGs). This patient harboured a homozygous frameshift CCDC82 variant c.183del (p.Phe61Leufs*27) and the parents were heterozygous carriers. There was another homozygous variant, albeit classified as VUS and not thought to fit the clinical presentation.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.8 CHMP3 Arina Puzriakova Classified gene: CHMP3 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v4.8 CHMP3 Arina Puzriakova Added comment: Comment on list classification: Rating Red for now as only a single case has been reported to date.
Childhood onset hereditary spastic paraplegia v4.8 CHMP3 Arina Puzriakova Gene: chmp3 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v4.7 CHMP3 Arina Puzriakova gene: CHMP3 was added
gene: CHMP3 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP3 were set to 35710109
Phenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures
Added comment: Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.6 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 28158749
Childhood onset hereditary spastic paraplegia v4.5 ATAD3A Arina Puzriakova Classified gene: ATAD3A as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.5 ATAD3A Arina Puzriakova Gene: atad3a has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.4 ATAD3A Arina Puzriakova edited their review of gene: ATAD3A: Added comment: PMID: 34387651 - one patient with spastic diplegic gait that appeared stable since early infancy, harbouring the same p.(Gly355Asp) variant in ATAD3A as seen in the patient previously reported by Cooper et al. 2017 (PMID: 28158749). This is the second case where the early phenotype was notable for spasticity in early childhood and therefore upgrading the rating from Red to Amber.; Changed publications to: 28158749, 27640307, 33845882, 34387651; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.4 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.4 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Childhood onset hereditary spastic paraplegia v4.4 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 9635427
Childhood onset hereditary spastic paraplegia v4.3 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Childhood onset hereditary spastic paraplegia v4.2 WASHC5 Achchuthan Shanmugasundram Publications for gene: WASHC5 were set to 17160902
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram Tag Q1_23_expert_review tag was added to gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram Tag Q1_23_demote_red tag was added to gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.1 WASHC5 Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: 17160902, 23455931, 26572744, 31814071, 33662919; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM:603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v4.1 Catherine Snow Panel version 4.0 has been signed off on 2023-03-22
Childhood onset hereditary spastic paraplegia v4.0 Catherine Snow promoted panel to version 4.0
Childhood onset hereditary spastic paraplegia v3.28 Arina Puzriakova List of related panels changed from Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61 to Hereditary spastic paraplegia - childhood onset; R61
Childhood onset hereditary spastic paraplegia v3.27 Eleanor Williams Panel name changed from Hereditary spastic paraplegia - childhood onset to Childhood onset hereditary spastic paraplegia
List of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Hereditary spastic paraplegia - childhood onset; R61
Childhood onset hereditary spastic paraplegia v3.26 RNF170 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RNF170.
Childhood onset hereditary spastic paraplegia v3.26 RNF170 Achchuthan Shanmugasundram Classified gene: RNF170 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v3.26 RNF170 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases) for this gene to be promoted to GREEN at the next major review.
Childhood onset hereditary spastic paraplegia v3.26 RNF170 Achchuthan Shanmugasundram Gene: rnf170 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v3.25 RNF170 Achchuthan Shanmugasundram Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, OMIM:619686
Childhood onset hereditary spastic paraplegia v3.24 RNF170 Achchuthan Shanmugasundram Publications for gene: RNF170 were set to 31636353
Childhood onset hereditary spastic paraplegia v3.23 RNF170 Achchuthan Shanmugasundram changed review comment from: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy.

PMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia.

PMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.; to: PMID:31636353 reported 9 patients from 4 unrelated families with childhood-onset spastic paraplegia. The age of onset of the condition ranged from 2 to 5 years of age and they were all identified with a homozygous variant in RNF170 gene. It is a neurological disorder characterised by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities, with oilder patients also having upper limb involvement and axonal polyneuropathy.

PMID:33165979 reported four members from a single family carrying a homozygous stop gain variant in RNF170 and diagnosed with hereditary spastic paraplegia.

PMID:35041108 reported a 7 year old girl with novel homozygous missense variant in RNF170 and she presented with progressive difficulty in walking that started when she was 3 years old, lower limb predominant spastic paraparesis, and mild upper limbs involvement with slight tremor in the hands, all occurring in the absence of neurodevelopmental or growth delays.

This gene has been associated with relevant phenotypes in OMIM (MIM #619686), but not yet in Gene2Phenotype.
Childhood onset hereditary spastic paraplegia v3.23 RNF170 Achchuthan Shanmugasundram reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 33165979, 35041108; Phenotypes: Spastic paraplegia 85, autosomal recessive, OMIM:619686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v3.20 SPAST Sarah Leigh Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, 182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Childhood onset hereditary spastic paraplegia v3.19 ATL1 Achchuthan Shanmugasundram Publications for gene: ATL1 were set to 11685207; 15517445
Childhood onset hereditary spastic paraplegia v3.18 MAG Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: MAG.
Childhood onset hereditary spastic paraplegia v3.18 MAG Arina Puzriakova Publications for gene: MAG were set to 26179919; 24482476
Childhood onset hereditary spastic paraplegia v3.17 MAG Arina Puzriakova Classified gene: MAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v3.17 MAG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

At least 12 individuals from 8 families have been identified with biallelic variants in this gene. Clinical features are characterised by spasticity (9/13), neuropathy (8/13), optic atrophy (7/13), variable cognitive deficits (7/13), and cerebellar signs (10/13) including ataxia in some (8/13) although 3/10 showed normal brain MRI results.
Childhood onset hereditary spastic paraplegia v3.17 MAG Arina Puzriakova Gene: mag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v3.16 MAG Arina Puzriakova Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Childhood onset hereditary spastic paraplegia v3.15 KLC2 Arina Puzriakova Classified gene: KLC2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v3.15 KLC2 Arina Puzriakova Added comment: Comment on list classification: Rating Red as this would not currently be picked up by the pipeline but will make a note in our internal log of additional entities to investigate methods of incorporating this variants in the future.
Childhood onset hereditary spastic paraplegia v3.15 KLC2 Arina Puzriakova Gene: klc2 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v3.14 KLC2 Arina Puzriakova Phenotypes for gene: KLC2 were changed from Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 to Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541
Childhood onset hereditary spastic paraplegia v3.13 KLC2 Arina Puzriakova Publications for gene: KLC2 were set to
Childhood onset hereditary spastic paraplegia v3.12 KLC2 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: KLC2.
Childhood onset hereditary spastic paraplegia v3.12 TMEM63C Eleanor Williams Tag gene-checked tag was added to gene: TMEM63C.
Childhood onset hereditary spastic paraplegia v3.12 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Childhood onset hereditary spastic paraplegia v3.12 BLOC1S1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
Childhood onset hereditary spastic paraplegia v3.12 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Childhood onset hereditary spastic paraplegia v3.12 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v3.12 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v3.11 SPTAN1 Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence.
Sources: Literature; to: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence (2 cases with congenital, 11 with childhood and 2 with adolescence-onset).
Sources: Literature
Childhood onset hereditary spastic paraplegia v3.11 SPTAN1 Achchuthan Shanmugasundram gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 20493457; 22656320; 35150594
Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Review for gene: SPTAN1 was set to GREEN
Added comment: Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.

Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence.
Sources: Literature
Childhood onset hereditary spastic paraplegia v3.10 ISCA-46304-Gain Arina Puzriakova reviewed Region: ISCA-46304-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v3.10 ISCA-46304-Gain Arina Puzriakova Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567
Childhood onset hereditary spastic paraplegia v3.9 PI4KA Mafalda Gomes Tag Q1_22_phenotype was removed from gene: PI4KA.
Tag Q1_22_expert_review was removed from gene: PI4KA.
Tag Q1_22_NHS_review was removed from gene: PI4KA.
Childhood onset hereditary spastic paraplegia v3.9 PI4KA Mafalda Gomes changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains XX.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.
Childhood onset hereditary spastic paraplegia v3.9 TFG Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG.
Childhood onset hereditary spastic paraplegia v3.9 SPATA5L1 Mafalda Gomes Tag Q1_22_rating was removed from gene: SPATA5L1.
Childhood onset hereditary spastic paraplegia v3.9 HSPD1 Mafalda Gomes Tag Q2_22_rating was removed from gene: HSPD1.
Childhood onset hereditary spastic paraplegia v3.9 C19orf12 Mafalda Gomes Tag Q2_22_MOI was removed from gene: C19orf12.
Childhood onset hereditary spastic paraplegia v3.9 AIMP1 Mafalda Gomes Tag Q3_21_MOI was removed from gene: AIMP1.
Childhood onset hereditary spastic paraplegia v3.9 ACER3 Mafalda Gomes Tag Q1_22_rating was removed from gene: ACER3.
Childhood onset hereditary spastic paraplegia v3.9 ABHD16A Mafalda Gomes Tag Q4_21_rating was removed from gene: ABHD16A.
Childhood onset hereditary spastic paraplegia v3.9 TMEM63C Mafalda Gomes Tag Q3_22_rating was removed from gene: TMEM63C.
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes Tag Q3_22_rating was removed from gene: TAF8.
Childhood onset hereditary spastic paraplegia v3.9 NSRP1 Mafalda Gomes Tag Q3_22_rating was removed from gene: NSRP1.
Childhood onset hereditary spastic paraplegia v3.9 NDUFA12 Mafalda Gomes Tag Q3_22_rating was removed from gene: NDUFA12.
Childhood onset hereditary spastic paraplegia v3.9 KPNA3 Mafalda Gomes Tag Q3_22_rating was removed from gene: KPNA3.
Childhood onset hereditary spastic paraplegia v3.9 PI4KA Mafalda Gomes reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 TFG Mafalda Gomes commented on gene: TFG
Childhood onset hereditary spastic paraplegia v3.9 SPATA5L1 Mafalda Gomes reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 HSPD1 Mafalda Gomes reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 C19orf12 Mafalda Gomes commented on gene: C19orf12
Childhood onset hereditary spastic paraplegia v3.9 AIMP1 Mafalda Gomes commented on gene: AIMP1
Childhood onset hereditary spastic paraplegia v3.9 ACER3 Mafalda Gomes edited their review of gene: ACER3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Childhood onset hereditary spastic paraplegia v3.9 ACER3 Mafalda Gomes commented on gene: ACER3
Childhood onset hereditary spastic paraplegia v3.9 ABHD16A Mafalda Gomes reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 TMEM63C Mafalda Gomes commented on gene: TMEM63C: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v3.9 TMEM63C Mafalda Gomes reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes commented on gene: TAF8: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v3.9 TAF8 Mafalda Gomes reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 NSRP1 Mafalda Gomes commented on gene: NSRP1: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v3.9 NSRP1 Mafalda Gomes reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 NDUFA12 Mafalda Gomes commented on gene: NDUFA12: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v3.9 NDUFA12 Mafalda Gomes reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v3.9 KPNA3 Mafalda Gomes commented on gene: KPNA3
Childhood onset hereditary spastic paraplegia v3.8 TMEM63C Mafalda Gomes Source Expert Review Green was added to TMEM63C.
Source NHS GMS was added to TMEM63C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 TFG Mafalda Gomes Mode of inheritance for gene TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v3.8 TAF8 Mafalda Gomes Source Expert Review Green was added to TAF8.
Source NHS GMS was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 SPATA5L1 Mafalda Gomes Source Expert Review Green was added to SPATA5L1.
Source NHS GMS was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 NSRP1 Mafalda Gomes Source Expert Review Green was added to NSRP1.
Source NHS GMS was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 NDUFA12 Mafalda Gomes Source Expert Review Green was added to NDUFA12.
Source NHS GMS was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 KPNA3 Mafalda Gomes Source Expert Review Green was added to KPNA3.
Source NHS GMS was added to KPNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 HSPD1 Mafalda Gomes Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 C19orf12 Mafalda Gomes Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v3.8 AIMP1 Mafalda Gomes Mode of inheritance for gene AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v3.8 ACER3 Mafalda Gomes Source Expert Review Green was added to ACER3.
Source NHS GMS was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.8 ABHD16A Mafalda Gomes Source Expert Review Green was added to ABHD16A.
Source NHS GMS was added to ABHD16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v3.7 TECPR2 Mafalda Gomes Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive, 615031 to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
Childhood onset hereditary spastic paraplegia v3.6 TECPR2 Mafalda Gomes Publications for gene: TECPR2 were set to 23176824; 26542466
Childhood onset hereditary spastic paraplegia v3.5 TECPR2 Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: TECPR2.
Childhood onset hereditary spastic paraplegia v3.5 TECPR2 Mafalda Gomes changed review comment from: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss?of?function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.; to: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss of function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.
Childhood onset hereditary spastic paraplegia v3.5 TECPR2 Mafalda Gomes reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33847017; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v3.5 DDX3X Arina Puzriakova Classified gene: DDX3X as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v3.5 DDX3X Arina Puzriakova Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v3.4 DDX3X Arina Puzriakova Publications for gene: DDX3X were set to
Childhood onset hereditary spastic paraplegia v3.3 DDX3X Arina Puzriakova Classified gene: DDX3X as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v3.3 DDX3X Arina Puzriakova Gene: ddx3x has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v3.2 DDX3X Arina Puzriakova changed review comment from: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update.
Sources: Literature; to: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop a movement disorder. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update.
Sources: Literature
Childhood onset hereditary spastic paraplegia v3.2 DDX3X Arina Puzriakova edited their review of gene: DDX3X: Changed publications to: 26235985, 29490693, 30936465, 32852922
Childhood onset hereditary spastic paraplegia v3.2 DDX3X Arina Puzriakova gene: DDX3X was added
gene: DDX3X was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Q4_22_promote_green tags were added to gene: DDX3X.
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Review for gene: DDX3X was set to GREEN
Added comment: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update.
Sources: Literature
Childhood onset hereditary spastic paraplegia v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Childhood onset hereditary spastic paraplegia v3.0 Eleanor Williams promoted panel to version 3.0
Childhood onset hereditary spastic paraplegia v2.153 KDM5C Arina Puzriakova Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534
Childhood onset hereditary spastic paraplegia v2.152 CTNNB1 Arina Puzriakova Classified gene: CTNNB1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.152 CTNNB1 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.152 CTNNB1 Arina Puzriakova Gene: ctnnb1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.151 CTNNB1 Arina Puzriakova gene: CTNNB1 was added
gene: CTNNB1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Q4_22_promote_green tags were added to gene: CTNNB1.
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNNB1 were set to 23033978; 24614104; 25326669; 26968164; 27915094; 34321325
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Review for gene: CTNNB1 was set to GREEN
Added comment: Childhood-onset spasticity is a key feature of the neurodevelopmental phenotype caused by pathogenic monoallelic variants in the CTNNB1 gene. Over 15 unrelated cases reported in literature, almost all of which developed spasticity which significantly affected ability to walk.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.150 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010
Childhood onset hereditary spastic paraplegia v2.149 NRCAM Sarah Leigh Tag watchlist tag was added to gene: NRCAM.
Childhood onset hereditary spastic paraplegia v2.149 NRCAM Sarah Leigh Tag Q3_22_rating was removed from gene: NRCAM.
Tag Q3_22_MOI was removed from gene: NRCAM.
Childhood onset hereditary spastic paraplegia v2.149 NRCAM Sarah Leigh Deleted their comment
Childhood onset hereditary spastic paraplegia v2.149 NRCAM Sarah Leigh Entity copied from Intellectual disability v3.1716
Childhood onset hereditary spastic paraplegia v2.149 NRCAM Sarah Leigh gene: NRCAM was added
gene: NRCAM was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber
Q3_22_rating, Q3_22_MOI tags were added to gene: NRCAM.
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833
Penetrance for gene: NRCAM were set to Complete
Childhood onset hereditary spastic paraplegia v2.148 BLOC1S1 Arina Puzriakova Classified gene: BLOC1S1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.148 BLOC1S1 Arina Puzriakova Added comment: Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that the number of unrelated families presenting the relevant phenotype meets the criteria for an Amber rating at this time.
Childhood onset hereditary spastic paraplegia v2.148 BLOC1S1 Arina Puzriakova Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.147 BLOC1S1 Arina Puzriakova Tag watchlist was removed from gene: BLOC1S1.
Childhood onset hereditary spastic paraplegia v2.147 BLOC1S1 Arina Puzriakova Entity copied from Intellectual disability v3.1700
Childhood onset hereditary spastic paraplegia v2.147 BLOC1S1 Arina Puzriakova gene: BLOC1S1 was added
gene: BLOC1S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
watchlist tags were added to gene: BLOC1S1.
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 33875846
Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy
Penetrance for gene: BLOC1S1 were set to unknown
Childhood onset hereditary spastic paraplegia v2.146 NDUFA12 Arina Puzriakova Entity copied from Childhood onset dystonia or chorea or related movement disorder v1.251
Childhood onset hereditary spastic paraplegia v2.146 NDUFA12 Arina Puzriakova gene: NDUFA12 was added
gene: NDUFA12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,PanelApp,South West GLH
Q3_22_rating tags were added to gene: NDUFA12.
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257; 33715266; 35141356
Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Childhood onset hereditary spastic paraplegia v2.145 TAF8 Arina Puzriakova Entity copied from Intellectual disability v3.1656
Childhood onset hereditary spastic paraplegia v2.145 TAF8 Arina Puzriakova gene: TAF8 was added
gene: TAF8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber
Q3_22_rating tags were added to gene: TAF8.
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 29648665; 35759269
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Penetrance for gene: TAF8 were set to unknown
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Classified gene: KPNA3 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommendation of GREEN rating following GMS review.
Childhood onset hereditary spastic paraplegia v2.144 KPNA3 Eleanor Williams Gene: kpna3 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Tag Q3_21_rating was removed from gene: KPNA3.
Tag Q3_22_rating tag was added to gene: KPNA3.
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Tag Q3_21_rating tag was added to gene: KPNA3.
Childhood onset hereditary spastic paraplegia v2.143 KPNA3 Eleanor Williams Phenotypes for gene: KPNA3 were changed from Infantile onset spastic paraplegia; developmental delay to autosomal dominant pure spastic paraplegia, MONDO:0015088
Childhood onset hereditary spastic paraplegia v2.142 KPNA3 Eleanor Williams Publications for gene: KPNA3 were set to PMID: 34564892
Childhood onset hereditary spastic paraplegia v2.141 KPNA3 Eleanor Williams Mode of inheritance for gene: KPNA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.140 KPNA3 Eleanor Williams reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34564892; Phenotypes: autosomal dominant pure spastic paraplegia, MONDO:0015088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.140 NSRP1 Arina Puzriakova Entity copied from Intellectual disability v3.1641
Childhood onset hereditary spastic paraplegia v2.140 NSRP1 Arina Puzriakova gene: NSRP1 was added
gene: NSRP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Q3_22_rating tags were added to gene: NSRP1.
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly
Childhood onset hereditary spastic paraplegia v2.139 TMEM63C Sarah Leigh Classified gene: TMEM63C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.139 TMEM63C Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset hereditary spastic paraplegia v2.139 TMEM63C Sarah Leigh Gene: tmem63c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.138 TMEM63C Sarah Leigh gene: TMEM63C was added
gene: TMEM63C was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Q3_22_rating tags were added to gene: TMEM63C.
Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM63C were set to 35718349
Phenotypes for gene: TMEM63C were set to hereditary spastic paraplegia, MONDO:0019064
Review for gene: TMEM63C was set to GREEN
Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID:35718349 reports four TMEM63C variants in seven individuals from three unrelated families with childhood onset hereditary spastic paraplegia, with mild intellectual disability in some cases. Functional studies in PMID:35718349, reveal a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.137 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Childhood onset hereditary spastic paraplegia v2.137 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Childhood onset hereditary spastic paraplegia v2.137 HSPD1 Arina Puzriakova Classified gene: HSPD1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.137 HSPD1 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update under the AR inheritance pattern for the childhood-onset panel.
Childhood onset hereditary spastic paraplegia v2.137 HSPD1 Arina Puzriakova Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.136 HSPD1 Arina Puzriakova Tag Q2_22_rating tag was added to gene: HSPD1.
Childhood onset hereditary spastic paraplegia v2.136 HSPD1 Arina Puzriakova Publications for gene: HSPD1 were set to 17420924; 10677329; 11898127
Childhood onset hereditary spastic paraplegia v2.135 HSPD1 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed from 'monoallelic' to 'biallelic' as per the review by Zornitza Stark (Australian Genomics) stating that only biallelic variants cause a more severe phenotype including spasticity with onset in childhood.
Childhood onset hereditary spastic paraplegia v2.135 HSPD1 Arina Puzriakova Mode of inheritance for gene: HSPD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.134 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh Tag Q2_22_MOI tag was added to gene: C19orf12.
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh reviewed gene: C19orf12: Rating: ; Mode of pathogenicity: None; Publications: 29295770, 31087512; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.133 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Childhood onset hereditary spastic paraplegia v2.132 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 23857908; 26539891
Childhood onset hereditary spastic paraplegia v2.131 ACER3 Arina Puzriakova Entity copied from White matter disorders and cerebral calcification - narrow panel v1.227
Childhood onset hereditary spastic paraplegia v2.131 ACER3 Arina Puzriakova gene: ACER3 was added
gene: ACER3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber
Q1_22_rating tags were added to gene: ACER3.
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 32816236; 34281620
Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Childhood onset hereditary spastic paraplegia v2.130 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Childhood onset hereditary spastic paraplegia v2.130 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Childhood onset hereditary spastic paraplegia v2.130 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Childhood onset hereditary spastic paraplegia v2.130 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Childhood onset hereditary spastic paraplegia v2.130 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Childhood onset hereditary spastic paraplegia v2.130 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Childhood onset hereditary spastic paraplegia v2.130 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Childhood onset hereditary spastic paraplegia v2.130 SLC25A15 Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15.
Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Ivone Leong Tag Q4_21_rating was removed from gene: RNASEH2B.
Childhood onset hereditary spastic paraplegia v2.130 MAPK8IP3 Ivone Leong Tag Q4_21_rating was removed from gene: MAPK8IP3.
Childhood onset hereditary spastic paraplegia v2.130 IFIH1 Ivone Leong Tag Q4_21_rating was removed from gene: IFIH1.
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 HIKESHI Ivone Leong Tag Q2_21_rating was removed from gene: HIKESHI.
Childhood onset hereditary spastic paraplegia v2.130 GPT2 Ivone Leong Tag Q4_21_rating was removed from gene: GPT2.
Childhood onset hereditary spastic paraplegia v2.130 GLRX5 Ivone Leong Tag Q2_21_rating was removed from gene: GLRX5.
Childhood onset hereditary spastic paraplegia v2.130 GJA1 Ivone Leong Tag Q3_21_rating was removed from gene: GJA1.
Childhood onset hereditary spastic paraplegia v2.130 GALC Ivone Leong Tag Q3_21_rating was removed from gene: GALC.
Childhood onset hereditary spastic paraplegia v2.130 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Childhood onset hereditary spastic paraplegia v2.130 ELOVL1 Ivone Leong Tag Q4_21_rating was removed from gene: ELOVL1.
Childhood onset hereditary spastic paraplegia v2.130 BCAS3 Ivone Leong Tag Q2_21_rating was removed from gene: BCAS3.
Childhood onset hereditary spastic paraplegia v2.130 ARL6IP1 Ivone Leong Tag Q2_21_rating was removed from gene: ARL6IP1.
Childhood onset hereditary spastic paraplegia v2.130 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Ivone Leong Tag Q2_21_MOI was removed from gene: AFG3L2.
Childhood onset hereditary spastic paraplegia v2.130 SLC25A15 Sarah Leigh commented on gene: SLC25A15
Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Sarah Leigh commented on gene: RNASEH2B
Childhood onset hereditary spastic paraplegia v2.130 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Childhood onset hereditary spastic paraplegia v2.130 IFIH1 Sarah Leigh commented on gene: IFIH1
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 v2.130 HIKESHI Sarah Leigh commented on gene: HIKESHI
Childhood onset hereditary spastic paraplegia v2.130 GPT2 Sarah Leigh commented on gene: GPT2
Childhood onset hereditary spastic paraplegia v2.130 GLRX5 Sarah Leigh commented on gene: GLRX5
Childhood onset hereditary spastic paraplegia v2.130 GJA1 Sarah Leigh commented on gene: GJA1
Childhood onset hereditary spastic paraplegia v2.130 GALC Sarah Leigh commented on gene: GALC
Childhood onset hereditary spastic paraplegia v2.130 FAR1 Sarah Leigh commented on gene: FAR1
Childhood onset hereditary spastic paraplegia v2.130 ELOVL1 Sarah Leigh commented on gene: ELOVL1
Childhood onset hereditary spastic paraplegia v2.130 BCAS3 Sarah Leigh commented on gene: BCAS3
Childhood onset hereditary spastic paraplegia v2.130 ARL6IP1 Sarah Leigh commented on gene: ARL6IP1
Childhood onset hereditary spastic paraplegia v2.130 ALDH3A2 Sarah Leigh commented on gene: ALDH3A2
Childhood onset hereditary spastic paraplegia v2.130 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v2.129 SLC25A15 Ivone Leong Source Expert Review Green was added to SLC25A15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 RNASEH2B Ivone Leong Source Expert Review Green was added to RNASEH2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 MAPK8IP3 Ivone Leong Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v2.129 HIKESHI Ivone Leong Source Expert Review Green was added to HIKESHI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GPT2 Ivone Leong Source Expert Review Green was added to GPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GLRX5 Ivone Leong Source Expert Review Green was added to GLRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GJA1 Ivone Leong Source Expert Review Green was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 GALC Ivone Leong Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ELOVL1 Ivone Leong Source Expert Review Green was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 BCAS3 Ivone Leong Source Expert Review Green was added to BCAS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ARL6IP1 Ivone Leong Source Expert Review Green was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.129 AFG3L2 Ivone Leong Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.126 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Childhood onset hereditary spastic paraplegia v2.126 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Childhood onset hereditary spastic paraplegia v2.126 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Childhood onset hereditary spastic paraplegia v2.126 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Childhood onset hereditary spastic paraplegia v2.126 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Childhood onset hereditary spastic paraplegia v2.126 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Childhood onset hereditary spastic paraplegia v2.126 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Childhood onset hereditary spastic paraplegia v2.126 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Childhood onset hereditary spastic paraplegia v2.126 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Childhood onset hereditary spastic paraplegia v2.126 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Childhood onset hereditary spastic paraplegia v2.125 RNU7-1 Ivone Leong Tag for-review was removed from gene: RNU7-1.
Childhood onset hereditary spastic paraplegia v2.125 PCYT2 Ivone Leong Tag for-review was removed from gene: PCYT2.
Childhood onset hereditary spastic paraplegia v2.125 STN1 Ivone Leong Tag for-review was removed from gene: STN1.
Childhood onset hereditary spastic paraplegia v2.125 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Childhood onset hereditary spastic paraplegia v2.125 PCYT2 Sarah Leigh commented on gene: PCYT2
Childhood onset hereditary spastic paraplegia v2.125 RNU7-1 Sarah Leigh commented on gene: RNU7-1
Childhood onset hereditary spastic paraplegia v2.124 STN1 Ivone Leong Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.124 PCYT2 Ivone Leong Source Expert Review Green was added to PCYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.124 RNU7-1 Ivone Leong Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.123 GJC2 Arina Puzriakova Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.122 SPATA5L1 Ivone Leong Entity copied from Intellectual disability v3.1495
Childhood onset hereditary spastic paraplegia v2.122 SPATA5L1 Ivone Leong gene: SPATA5L1 was added
gene: SPATA5L1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Q1_22_rating tags were added to gene: SPATA5L1.
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Childhood onset hereditary spastic paraplegia v2.121 PI4KA Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PI4KA.
Childhood onset hereditary spastic paraplegia v2.121 PI4KA Arina Puzriakova Tag Q1_22_expert_review tag was added to gene: PI4KA.
Tag Q1_22_NHS_review tag was added to gene: PI4KA.
Childhood onset hereditary spastic paraplegia v2.121 PI4KA Evan Reid commented on gene: PI4KA: This paper supports the idea that mutations in this gene can cause a relatively pure spastic paraplegia (PMID: 34415322 PMCID: PMC8557332 DOI: 10.1093/brain/awab124), which I think would justify inclusion of the gene on the HSP panel.
Childhood onset hereditary spastic paraplegia v2.121 PI4KA Evan Reid reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34415322; Phenotypes: spastic paraplegia, leukodystrophy, white matter abnromality, seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v2.121 RNASEH2B Arina Puzriakova Publications for gene: RNASEH2B were set to 30223285; 25243380; 29691679; 28762473
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Classified gene: RNASEH2B as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence of childhood-onset spasticity associated with variants in this gene. Upgraded from Red to Amber but should be promoted to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.119 RNASEH2B Arina Puzriakova Tag Q4_21_rating tag was added to gene: RNASEH2B.
Childhood onset hereditary spastic paraplegia v2.119 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis to Aicardi-Goutieres syndrome 2, OMIM:61018
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 v2.117 MAPK8IP3 Arina Puzriakova Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Childhood onset hereditary spastic paraplegia v2.116 MAPK8IP3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: MAPK8IP3.
Childhood onset hereditary spastic paraplegia v2.116 MAPK8IP3 Arina Puzriakova Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.116 MAPK8IP3 Arina Puzriakova Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 8 subjects presented with spasticity, among other features. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.116 MAPK8IP3 Arina Puzriakova Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.115 IFIH1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: IFIH1.
Childhood onset hereditary spastic paraplegia v2.115 IFIH1 Arina Puzriakova Classified gene: IFIH1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.115 IFIH1 Arina Puzriakova Added comment: Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development.

Overall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.115 IFIH1 Arina Puzriakova Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.114 IFIH1 Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846 to Aicardi-Goutieres syndrome 7, OMIM:615846
Childhood onset hereditary spastic paraplegia v2.113 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Childhood onset hereditary spastic paraplegia v2.112 IBA57 Arina Puzriakova changed review comment from: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.; to: Comment on list classification: No further evidence has emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.
Childhood onset hereditary spastic paraplegia v2.112 IBA57 Arina Puzriakova Classified gene: IBA57 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.112 IBA57 Arina Puzriakova Added comment: Comment on list classification: No further evidence was emerged since initial curation and clinical review in 2019 and therefore will maintain the Amber gene rating on spasticity panels at this time.
Childhood onset hereditary spastic paraplegia v2.112 IBA57 Arina Puzriakova Gene: iba57 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.111 GPT2 Arina Puzriakova Publications for gene: GPT2 were set to 29882329; 31471722; 27601654
Childhood onset hereditary spastic paraplegia v2.110 GPT2 Arina Puzriakova Tag Q4_21_rating tag was added to gene: GPT2.
Childhood onset hereditary spastic paraplegia v2.110 GPT2 Arina Puzriakova Classified gene: GPT2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.110 GPT2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Spastic paraplegia is a frequently reported sign which develops later in the course of disease but is often severe. As this is a prominent feature of the condition there is value in including GPT2 on this panel. This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P.
Childhood onset hereditary spastic paraplegia v2.110 GPT2 Arina Puzriakova Gene: gpt2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.109 GPT2 Arina Puzriakova Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281
Childhood onset hereditary spastic paraplegia v2.108 EXOSC3 Arina Puzriakova Classified gene: EXOSC3 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.108 EXOSC3 Arina Puzriakova Added comment: Comment on list classification: Rating Amber as only two families have been reported to date with early-onset spastic paraplegia associated with biallelic variants in this gene. Other features included variable cognitive impairment and cerebellar atrophy but normal pons.
Childhood onset hereditary spastic paraplegia v2.108 EXOSC3 Arina Puzriakova Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.107 ELOVL1 Arina Puzriakova Publications for gene: ELOVL1 were updated from 29496980; 32123819; 30487246 to 23689133; 29496980; 30487246; 32123819
Childhood onset hereditary spastic paraplegia v2.106 ELOVL1 Arina Puzriakova Classified gene: ELOVL1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.106 ELOVL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Although only a single variant has been reported to date this was shown to arise de novo in unrelated individuals and the possibility of a founder effect was ruled out. Pathogenicity is supported by functional data including in vitro studies of the variant and complimentary animal models. Overall this is sufficient evidence to rate this gene as Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.106 ELOVL1 Arina Puzriakova Gene: elovl1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.105 ELOVL1 Arina Puzriakova Tag missense tag was added to gene: ELOVL1.
Tag Q4_21_rating tag was added to gene: ELOVL1.
Childhood onset hereditary spastic paraplegia v2.105 ELOVL1 Arina Puzriakova reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23689133, 29496980, 30487246, 32123819; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.105 ELOVL1 Arina Puzriakova Phenotypes for gene: ELOVL1 were changed from Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Childhood onset hereditary spastic paraplegia v2.104 CPT1C Arina Puzriakova Classified gene: CPT1C as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.104 CPT1C Arina Puzriakova Added comment: Comment on list classification: Overall one family with confirmed adult-onset and one with childhood-onset have been reported, as well as two further unrelated cases but unfortunately without indication of age of onset. Although onset is variable, the gene-disease relationship is supported by a strong animal model, and therefore it is worth including CPT1C on both HSP panels as Green.
Childhood onset hereditary spastic paraplegia v2.104 CPT1C Arina Puzriakova Gene: cpt1c has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v2.103 CPT1C Arina Puzriakova Publications for gene: CPT1C were set to 25751282; 30564185
Childhood onset hereditary spastic paraplegia v2.102 CPT1C Arina Puzriakova reviewed gene: CPT1C: Rating: ; Mode of pathogenicity: None; Publications: 30911584; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v2.102 CPT1C Arina Puzriakova Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282
Childhood onset hereditary spastic paraplegia v2.101 AP5Z1 Arina Puzriakova Publications for gene: AP5Z1 were set to Slabicki et al. (2010); 20613862; 24833714; 27606357
Childhood onset hereditary spastic paraplegia v2.100 AP5Z1 Arina Puzriakova reviewed gene: AP5Z1: Rating: ; Mode of pathogenicity: None; Publications: 24833714, 27606357, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.100 AP5Z1 Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, OMIM:613647 to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Childhood onset hereditary spastic paraplegia v2.99 AP5Z1 Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Childhood onset hereditary spastic paraplegia v2.98 KIDINS220 Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Childhood onset hereditary spastic paraplegia v2.97 FXN_GAA Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Childhood onset hereditary spastic paraplegia v2.96 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Childhood onset hereditary spastic paraplegia v2.96 PPP2R2B_CAG Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Childhood onset hereditary spastic paraplegia v2.95 TBP_CAG Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Childhood onset hereditary spastic paraplegia v2.94 HTT_CAG Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Childhood onset hereditary spastic paraplegia v2.93 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Childhood onset hereditary spastic paraplegia v2.92 CACNA1A_CAG Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Childhood onset hereditary spastic paraplegia v2.91 ATXN7_CAG Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Childhood onset hereditary spastic paraplegia v2.90 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Childhood onset hereditary spastic paraplegia v2.89 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Childhood onset hereditary spastic paraplegia v2.88 ATXN10_ATTCT Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Childhood onset hereditary spastic paraplegia v2.87 PI4KA Ivone Leong edited their review of gene: PI4KA: Added comment: After consulting with the Genomics England Clinical Team it was decided that this gene should be added to the Hereditary spastic paraplegia - childhood onset panel with an Amber rating.

Helen Brittain:
"I think the spasticity is likely to be secondary to the CNS findings and therefore might opt for amber at this stage, as it is perhaps unlikely to be clearly relevant to the more typical cohort with isolated spasticity that will be targeted by that panel."; Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v2.87 PI4KA Ivone Leong changed review comment from: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID: 25855803. From OMIM: "3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers."

PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years.

PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.; to: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID: 25855803. From OMIM: "3 fetuses were all diagnosed in utero with multiple congenital anomalies resulting in the termination of pregnancy between 16 and 34 weeks' gestation. All fetuses had bilateral perisylvian polymicrogyria and cerebellar hypoplasia or dysplasia. One had a small pons. Additional features included severe talipes equinovarus, externally rotated hips, and variable contractures of the limbs or fingers."

PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years.

PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.
Childhood onset hereditary spastic paraplegia v2.87 PI4KA Ivone Leong Tag Q3_21_rating was removed from gene: PI4KA.
Childhood onset hereditary spastic paraplegia v2.87 PI4KA Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.241
Childhood onset hereditary spastic paraplegia v2.87 PI4KA Ivone Leong gene: PI4KA was added
gene: PI4KA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber
Q3_21_rating tags were added to gene: PI4KA.
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803; 34415322; 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Childhood onset hereditary spastic paraplegia v2.86 GJA1 Arina Puzriakova Publications for gene: GJA1 were set to 18660473; 22214631; 29927410; 31023660; 33190326; 33612672
Childhood onset hereditary spastic paraplegia v2.85 GJA1 Arina Puzriakova commented on gene: GJA1: Regarding inclusion of this gene on the childhood-onset panel, Helen Brittain (Genomics England Clinical Team) suggests - "As you say, there are sufficient cases albeit seemingly edge cases. I would be inclined to include it on the paediatric panel, as they are outlining the spasticity as a feature of ODDD, rather than a separate clinical entity. ODDD would be a paediatric-age diagnosis to make and the fact that it is clinically recognisable could aid in interpretation of variants of uncertain significance"
Childhood onset hereditary spastic paraplegia v2.85 GJA1 Arina Puzriakova Entity copied from Hereditary spastic paraplegia - adult onset v1.73
Childhood onset hereditary spastic paraplegia v2.85 GJA1 Arina Puzriakova gene: GJA1 was added
gene: GJA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber
Q3_21_rating tags were added to gene: GJA1.
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 18660473; 22214631; 29927410; 31023660; 33190326; 33612672
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, OMIM:164200; Spastic paraplegia
Childhood onset hereditary spastic paraplegia v2.84 KPNA3 Dmitrijs Rots gene: KPNA3 was added
gene: KPNA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to PMID: 34564892
Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay
Penetrance for gene: KPNA3 were set to unknown
Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KPNA3 was set to GREEN
Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.84 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, OMIM:270685 to Silver spastic paraplegia syndrome, OMIM:270685; Neuropathy, distal hereditary motor, type VC, OMIM:619112
Childhood onset hereditary spastic paraplegia v2.83 ABHD16A Ivone Leong Entity copied from Intellectual disability v3.1359
Childhood onset hereditary spastic paraplegia v2.83 ABHD16A Ivone Leong gene: ABHD16A was added
gene: ABHD16A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Q4_21_rating tags were added to gene: ABHD16A.
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability
Childhood onset hereditary spastic paraplegia v2.82 SLC25A15 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, and inclusion on the adult onset panel would ensure later onset, as well as edge cases are identified. SLC25A15 should be promoted to Green at the next GMS panel update.; to: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. Spasticity can be a predominant presenting feature, particularly in early-onset cases. SLC25A15 should be promoted to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.82 SLC25A15 Arina Puzriakova Entity copied from Hereditary spastic paraplegia - adult onset v1.68
Childhood onset hereditary spastic paraplegia v2.82 SLC25A15 Arina Puzriakova gene: SLC25A15 was added
gene: SLC25A15 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Amber
Q3_21_rating tags were added to gene: SLC25A15.
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 11355015; 16376511; 18978333; 22465082; 28592010; 33314525
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Childhood onset hereditary spastic paraplegia v2.81 GALC Arina Puzriakova Classified gene: GALC as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.81 GALC Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Childhood onset hereditary spastic paraplegia v2.81 GALC Arina Puzriakova Gene: galc has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.80 GALC Arina Puzriakova gene: GALC was added
gene: GALC was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Q3_21_rating tags were added to gene: GALC.
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 20886637; 21070211; 26396125; 28547031; 30089515; 31185936
Phenotypes for gene: GALC were set to Krabbe disease OMIM:245200
Review for gene: GALC was set to GREEN
Added comment: Biallelic variants in GALC are associated with Krabbe disease (MIM# 245200). Most patients present within the first 6 months of life with extreme irritability, spasticity, and developmental delay. A subset of cases also have later onset, including onset in the juvenile and adolescence period - all of which are relevant to this panel.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.79 CHP1 Arina Puzriakova Entity copied from Hereditary ataxia v1.241
Childhood onset hereditary spastic paraplegia v2.79 CHP1 Arina Puzriakova gene: CHP1 was added
gene: CHP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: CHP1.
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to 23904602; 29379881; 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM:618438
Childhood onset hereditary spastic paraplegia v2.78 ALDH3A2 Arina Puzriakova Tag Q3_21_rating tag was added to gene: ALDH3A2.
Childhood onset hereditary spastic paraplegia v2.78 ALDH3A2 Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.78 ALDH3A2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Childhood-onset spastic paraparesis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.78 ALDH3A2 Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.77 ALDH3A2 Arina Puzriakova Publications for gene: ALDH3A2 were set to 8528251; 29704247
Childhood onset hereditary spastic paraplegia v2.76 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, MIM#270200 to Sjogren-Larsson syndrome, OMIM:270200
Childhood onset hereditary spastic paraplegia v2.75 SLC16A2 Arina Puzriakova Publications for gene: SLC16A2 were set to 12871948; 14661163; 19194886
Childhood onset hereditary spastic paraplegia v2.74 SLC16A2 Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
Childhood onset hereditary spastic paraplegia v2.73 L1CAM Arina Puzriakova Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000
Childhood onset hereditary spastic paraplegia v2.72 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Childhood onset hereditary spastic paraplegia v2.71 WDR45B Arina Puzriakova Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Childhood onset hereditary spastic paraplegia v2.70 TFG Arina Puzriakova Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, OMIM:615658
Childhood onset hereditary spastic paraplegia v2.69 TFG Arina Puzriakova Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211; 28124177
Childhood onset hereditary spastic paraplegia v2.68 TFG Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.

Monoallelic variants are associated with an adult onset neuropathy (MIM# 604484), a disorder that does not include spasticity and is therefore not relevant to this panel.
Childhood onset hereditary spastic paraplegia v2.68 TFG Arina Puzriakova Mode of inheritance for gene: TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.67 TFG Arina Puzriakova Tag Q3_21_MOI tag was added to gene: TFG.
Childhood onset hereditary spastic paraplegia v2.67 SPART Arina Puzriakova Publications for gene: SPART were set to 12134148; 18413476; 26003402; 20301556
Childhood onset hereditary spastic paraplegia v2.66 SPART Arina Puzriakova Phenotypes for gene: SPART were changed from Troyer syndrome, 275900; Spastic paraplegia 20 to Troyer syndrome, OMIM:275900; Spastic paraplegia 20
Childhood onset hereditary spastic paraplegia v2.65 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Childhood onset hereditary spastic paraplegia v2.64 REEP2 Arina Puzriakova Publications for gene: REEP2 were set to 24388663; 28491902; 24482476
Childhood onset hereditary spastic paraplegia v2.63 NT5C2 Arina Puzriakova Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630
Childhood onset hereditary spastic paraplegia v2.62 NT5C2 Arina Puzriakova Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918
Childhood onset hereditary spastic paraplegia v2.61 NKX6-2 Arina Puzriakova Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Childhood onset hereditary spastic paraplegia v2.60 KIF1C Arina Puzriakova Publications for gene: KIF1C were set to 24482476; 17273843; 24319291
Childhood onset hereditary spastic paraplegia v2.59 KIF1C Arina Puzriakova Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302
Childhood onset hereditary spastic paraplegia v2.58 KIDINS220 Arina Puzriakova Publications for gene: KIDINS220 were set to 27005418; 29667355
Childhood onset hereditary spastic paraplegia v2.57 KDM5C Arina Puzriakova Publications for gene: KDM5C were set to 10982473; 26919706; 15586325; 18697827
Childhood onset hereditary spastic paraplegia v2.56 HACE1 Arina Puzriakova Publications for gene: HACE1 were set to 26424145; 26437029
Childhood onset hereditary spastic paraplegia v2.55 ENTPD1 Arina Puzriakova Publications for gene: ENTPD1 were set to Novarino et al. (2014); 24482476; 29691679
Childhood onset hereditary spastic paraplegia v2.54 ENTPD1 Arina Puzriakova Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
Childhood onset hereditary spastic paraplegia v2.53 ARG1 Arina Puzriakova Phenotypes for gene: ARG1 were changed from Progressive spastic tetraplegia; Argininaemia, 207800 to Argininemia, OMIM:207800
Childhood onset hereditary spastic paraplegia v2.52 ALS2 Arina Puzriakova Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225
Childhood onset hereditary spastic paraplegia v2.51 AIMP1 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: AIMP1.
Childhood onset hereditary spastic paraplegia v2.51 AIMP1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update (tagged Q3_21_MOI).

Literature review showed that all affected individuals harbour biallelic variants, while heterozygous variant carriers are asymptomatic. The MOI is also biallelic in OMIM, Gen2Phen, and all other relevant panels.
Childhood onset hereditary spastic paraplegia v2.51 AIMP1 Arina Puzriakova Mode of inheritance for gene: AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.50 AIMP1 Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Childhood onset hereditary spastic paraplegia v2.49 KIF1A Arina Puzriakova Publications for gene: KIF1A were set to 21487076; 22258533; 28362824
Childhood onset hereditary spastic paraplegia v2.48 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Childhood onset hereditary spastic paraplegia v2.47 WASHC5 Ivone Leong Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563
Childhood onset hereditary spastic paraplegia v2.46 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, OMIM:270685
Childhood onset hereditary spastic paraplegia v2.45 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Spastic paraplegia
Childhood onset hereditary spastic paraplegia v2.44 ATAD3A Arina Puzriakova reviewed gene: ATAD3A: Rating: ; Mode of pathogenicity: None; Publications: 28158749, 27640307, 33845882; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Spastic paraplegia; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v2.44 ARL6IP1 Eleanor Williams Phenotypes for gene: ARL6IP1 were changed from Spastic paraplegia to Spastic paraplegia 61, autosomal recessive, OMIM:615685; hereditary spastic paraplegia 61, MONDO:0014304
Childhood onset hereditary spastic paraplegia v2.43 ARL6IP1 Eleanor Williams Publications for gene: ARL6IP1 were set to Novarino et al. (2014); 24482476; 28471035
Childhood onset hereditary spastic paraplegia v2.42 ARL6IP1 Eleanor Williams Classified gene: ARL6IP1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.42 ARL6IP1 Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber but with recommendation for promotion to green at the next review. 4 cases reported with 3 different variants.
Childhood onset hereditary spastic paraplegia v2.42 ARL6IP1 Eleanor Williams Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.41 ARL6IP1 Eleanor Williams Tag Q2_21_rating tag was added to gene: ARL6IP1.
Childhood onset hereditary spastic paraplegia v2.41 ARL6IP1 Eleanor Williams reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.41 FAR1 Arina Puzriakova changed review comment from: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset.
Sources: Literature; to: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants affecting the Arg480 residue (PMID: 33239752). Paediatric onset.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.41 BCAS3 Arina Puzriakova Entity copied from Intellectual disability v3.1143
Childhood onset hereditary spastic paraplegia v2.41 BCAS3 Arina Puzriakova gene: BCAS3 was added
gene: BCAS3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: BCAS3.
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
Childhood onset hereditary spastic paraplegia v2.40 CYP7B1 Arina Puzriakova Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Childhood onset hereditary spastic paraplegia v2.39 HIKESHI Ivone Leong Tag Q2_21_rating tag was added to gene: HIKESHI.
Childhood onset hereditary spastic paraplegia v2.39 HIKESHI Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.119
Childhood onset hereditary spastic paraplegia v2.39 HIKESHI Ivone Leong gene: HIKESHI was added
gene: HIKESHI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIKESHI were set to 26545878; 28000699
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881
Childhood onset hereditary spastic paraplegia v2.38 GLRX5 Ivone Leong Tag Q2_21_rating tag was added to gene: GLRX5.
Childhood onset hereditary spastic paraplegia v2.38 GLRX5 Ivone Leong Classified gene: GLRX5 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.38 GLRX5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Childhood onset hereditary spastic paraplegia v2.38 GLRX5 Ivone Leong Gene: glrx5 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.37 GLRX5 Ivone Leong Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia 616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
Childhood onset hereditary spastic paraplegia v2.36 POLR3K Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.98
Childhood onset hereditary spastic paraplegia v2.36 POLR3K Ivone Leong gene: POLR3K was added
gene: POLR3K was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature,Expert Review Amber
watchlist, founder-effect tags were added to gene: POLR3K.
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Leukodystrophy, hypomyelinating, 21, OMIM:619310
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh reviewed gene: AFG3L2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive OMIM:614487, spastic ataxia 5 MONDO:0013776, Spinocerebellar ataxia 28 OMIM:610246, spinocerebellar ataxia type 28 MONDO:0012450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: AFG3L2.
Childhood onset hereditary spastic paraplegia v2.35 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Childhood onset hereditary spastic paraplegia v2.34 HPDL Sarah Leigh Publications for gene: HPDL were set to 32707086; 33188300
Childhood onset hereditary spastic paraplegia v2.33 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Childhood onset hereditary spastic paraplegia v2.32 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491
Childhood onset hereditary spastic paraplegia v2.31 UCHL1 Arina Puzriakova Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680
Childhood onset hereditary spastic paraplegia v2.30 FAR1 Arina Puzriakova Classified gene: FAR1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.30 FAR1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update
Childhood onset hereditary spastic paraplegia v2.30 FAR1 Arina Puzriakova Gene: far1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.29 FAR1 Arina Puzriakova gene: FAR1 was added
gene: FAR1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Q2_21_rating tags were added to gene: FAR1.
Mode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FAR1 were set to 25439727; 30561787; 33239752
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Review for gene: FAR1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset.
Sources: Literature
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 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Childhood onset hereditary spastic paraplegia v2.28 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Childhood onset hereditary spastic paraplegia v2.28 C12orf65 Catherine Snow commented on gene: C12orf65
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
Childhood onset hereditary spastic paraplegia v2.25 RNU7-1 Arina Puzriakova Classified gene: RNU7-1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.25 RNU7-1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spasticity (with or without dystonia) was a feature in all 11 families reported with biallelic variants in this gene (PMID:33230297)
Childhood onset hereditary spastic paraplegia v2.25 RNU7-1 Arina Puzriakova Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.24 RNU7-1 Arina Puzriakova gene: RNU7-1 was added
gene: RNU7-1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
for-review tags were added to gene: RNU7-1.
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Type I interferonopathy; Aicardi-Goutières syndrome
Review for gene: RNU7-1 was set to GREEN
Added comment: Not associated with any phenotype in OMIM or Gene2Phenotype.

- PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.23 AP4E1 Arina Puzriakova Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Childhood onset hereditary spastic paraplegia v2.22 AP4B1 Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Childhood onset hereditary spastic paraplegia v2.21 STN1 Sarah Leigh Classified gene: STN1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.21 STN1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in three unrelated cases, together with a supportive zebrafish model and other functional studies.

There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset hereditary spastic paraplegia v2.21 STN1 Sarah Leigh Gene: stn1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.20 STN1 Sarah Leigh gene: STN1 was added
gene: STN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
for-review tags were added to gene: STN1.
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940; 32627942
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Review for gene: STN1 was set to GREEN
Added comment: Comments from Zornitza Stark (Australian Genomics) Three individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. Gene belongs on multiple panels.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.19 ALK Zornitza Stark gene: ALK was added
gene: ALK was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALK were set to 32989326
Phenotypes for gene: ALK were set to Spastic-dystonic diplegia
Review for gene: ALK was set to AMBER
Added comment: Variants in this gene are linked to susceptibility to neuroblastoma.

PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.19 RHOB Zornitza Stark gene: RHOB was added
gene: RHOB was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOB were set to 32989326
Phenotypes for gene: RHOB were set to Cerebral palsy
Review for gene: RHOB was set to AMBER
Added comment: Recurrent de novo missense variant reported in 2 unrelated families from a 'cerebral palsy' cohort with supporting functional studies.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.19 PCYT2 Arina Puzriakova changed review comment from: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.; to: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.19 Arina Puzriakova Panel version has been signed off
Childhood onset hereditary spastic paraplegia v2.17 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as No list
Childhood onset hereditary spastic paraplegia v2.17 HTT_CAG Arina Puzriakova Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.
Childhood onset hereditary spastic paraplegia v2.17 HTT_CAG Arina Puzriakova Str: htt_cag has been removed from the panel.
Childhood onset hereditary spastic paraplegia v2.16 PCYT2 Arina Puzriakova Classified gene: PCYT2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.16 PCYT2 Arina Puzriakova Added comment: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.
Childhood onset hereditary spastic paraplegia v2.16 PCYT2 Arina Puzriakova Gene: pcyt2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.15 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v2.15 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031, Autonomic-sensory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.15 RNF170 Zornitza Stark gene: RNF170 was added
gene: RNF170 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF170 were set to 31636353
Phenotypes for gene: RNF170 were set to Hereditary spastic paraplegia
Review for gene: RNF170 was set to GREEN
Added comment: Four families reported with a complicated HSP phenotype.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29691679, 30223285, 29239743, 28762473; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 v2.15 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693; 30945334
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: PMID: 30612693 - 13 unrelated children patients with de novo variants, supported by functional studies. Patients have developmental delay (13/13), spasticity (4/13), ataxia (2/13), unstable gait (1/13), microcephaly (3/13), generalized seizures (3/13). No signs of regression, but cerebellar atrophy (3/12), thin corpus callosum (4/10), perisylvian polymicrogyria (2/12), white matter loss (4/12) was noted

PMID: 30945334 - 5 child patients (4 families) with spastic diplegia (4/5), ID (5/5), epilepsy (2/5) and cerebellar atrophy (5/5), corpus callosum hypoplasia (5/5).

Overall 8/18 individuals with spasticity.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 MAG Zornitza Stark reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 26179919, 31402626, 32629324; Phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.15 KLC2 Zornitza Stark gene: KLC2 was added
gene: KLC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541
Review for gene: KLC2 was set to GREEN
gene: KLC2 was marked as current diagnostic
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Gene is associated with disease, however deletion may not be tractable by all testing methods and/or this association may be better defined as a CNV.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFIH1 were set to 25243380; 31427910; 24686847; 24995871
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846
Review for gene: IFIH1 was set to GREEN
Added comment: At least four cases reported with spastic paraparesis as a feature of the condition.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 25609768, 30258207; Phenotypes: Spastic paraplegia 74, autosomal recessive MIM#616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.15 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.15 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 29882329; 31471722; 27601654
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281
Review for gene: GPT2 was set to GREEN
gene: GPT2 was marked as current diagnostic
Added comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 24334290; 30770271
Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859
Review for gene: GLRX5 was set to GREEN
gene: GLRX5 was marked as current diagnostic
Added comment: Spasticity is a key presenting feature of this condition.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 25149867; 23975261
Phenotypes for gene: EXOSC3 were set to Complicated hereditary spastic paraplegia
Review for gene: EXOSC3 was set to AMBER
Added comment: Two families with a complicated HSP phenotype.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 ELOVL1 Zornitza Stark gene: ELOVL1 was added
gene: ELOVL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Review for gene: ELOVL1 was set to GREEN
gene: ELOVL1 was marked as current diagnostic
Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism.

Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: RED; Mode of pathogenicity: None; Publications: 25751282; Phenotypes: Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v2.15 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28158749, 27640307; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v2.15 AP5Z1 Zornitza Stark reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.15 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 8528251; 29704247
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#270200
Review for gene: ALDH3A2 was set to GREEN
Added comment: Early-onset spastic paraparesis is a feature of the condition. >3 families reported with biallelic variants.
Sources: Expert list
Childhood onset hereditary spastic paraplegia v2.15 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATAD3A were set to 28158749
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183
Review for gene: ATAD3A was set to RED
Added comment: Added as a Red gene based on the available literature. There is only one case. PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.14 SARS2 Sarah Leigh Classified gene: SARS2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.14 SARS2 Sarah Leigh Gene: sars2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.13 SARS2 Sarah Leigh gene: SARS2 was added
gene: SARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 21255763; 24034276; 27279129
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis
Review for gene: SARS2 was set to AMBER
Added comment: PMID 27279129 reports a child with progressive spastic paresis with a homozygous splicing variant (c.1347G>A (NM_017827.3)), which was shown in vitro to result in retention of intron 14 and premature chain termination, leading to diminished levels of the synthetase in patient's fibroblasts.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.12 ARL6IP1 Zornitza Stark reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive, MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.12 PCYT2 Rebecca Foulger Tag for-review tag was added to gene: PCYT2.
Childhood onset hereditary spastic paraplegia v2.12 PCYT2 Rebecca Foulger Classified gene: PCYT2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.12 PCYT2 Rebecca Foulger Added comment: Comment on list classification: Added to panel based on sufficient cases in PMID:31637422 with HSP phenotype. Updated rating to Green following confirmation from Helen Brittain, Genomics England Clinical Team, that phenotype is appropriate for the panel. Added 'for-review' tag so that GLHs can confirm that gene is indeed required for childhood onset panel (as Helen notes: one patient had onset at 16 and mild delay of motor skills).
Childhood onset hereditary spastic paraplegia v2.12 PCYT2 Rebecca Foulger Gene: pcyt2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v2.11 PCYT2 Rebecca Foulger gene: PCYT2 was added
gene: PCYT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive, 618770
Added comment: PMID:31637422. In 5 patients from 4 unrelated families with autosomal recessive spastic paraplegia-82 (MIM:618770), Vaz et al. (2019) identified homozygous or compound heterozygous mutations in the PCYT2 gene. The variants segregated with the disorder in all families. Functional studies showed reduced (not absent) PYCT2 activity.
Sources: Literature
Childhood onset hereditary spastic paraplegia v2.10 Catherine Snow Panel version has been signed off
Childhood onset hereditary spastic paraplegia v2.9 Catherine Snow Panel version has been signed off
Childhood onset hereditary spastic paraplegia v2.7 KIF1A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v2.7 KIF1A Louise Daugherty commented on gene: KIF1A: As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/review
Childhood onset hereditary spastic paraplegia v2.6 Ellen McDonagh List of related panels changed from Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; R61
Childhood onset hereditary spastic paraplegia v2.5 Ellen McDonagh List of related panels changed from Childhood onset hereditary spastic paraplegia; R61 to Childhood onset hereditary spastic paraplegia; Childhood onset hereditary spastic paraplegia; R61
Childhood onset hereditary spastic paraplegia v2.4 RNASEH2B Louise Daugherty Publications for gene: RNASEH2B were set to 30223285; :25243380; 29691679; 28762473
Childhood onset hereditary spastic paraplegia v2.3 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Classified gene: RNASEH2B as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Added comment: Comment on list classification: New Green rated gene added by reviewer after panel sign off to V1.0- to be reviewed at next panel update with the Neurology Test Group for GMS. The 100,000 Genomes Project has identified one case and recent publications have reported RNASEH2B variants in homozygous status in patients with spastic paraplegia. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Gene: rnaseh2b has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v2.1 RNASEH2B Louise Daugherty Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Childhood onset hereditary spastic paraplegia v2.0 RNASEH2B Zerin Hyder gene: RNASEH2B was added
gene: RNASEH2B was added to Hereditary spastic paraplegia - childhood onset. Sources: Other
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Phenotypes for gene: RNASEH2B were set to hereditary spastic paraparesis
Penetrance for gene: RNASEH2B were set to unknown
Mode of pathogenicity for gene: RNASEH2B was set to Other
Review for gene: RNASEH2B was set to GREEN
Added comment: Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: Other
Childhood onset hereditary spastic paraplegia v2.0 Louise Daugherty promoted panel to version 2.0
Childhood onset hereditary spastic paraplegia v1.180 Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia;R61 to Childhood onset hereditary spastic paraplegia; R61
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Childhood onset hereditary spastic paraplegia v1.179 Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia to Childhood onset hereditary spastic paraplegia;R61
Childhood onset hereditary spastic paraplegia v1.178 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Childhood onset hereditary spastic paraplegia v1.178 MARS Louise Daugherty commented on gene: MARS
Childhood onset hereditary spastic paraplegia v1.178 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Childhood onset hereditary spastic paraplegia v1.178 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Childhood onset hereditary spastic paraplegia v1.177 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 HTT_CAG Louise Daugherty edited their review of STR: HTT_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 CACNA1A_CAG Louise Daugherty edited their review of STR: CACNA1A_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 ATXN7_CAG Louise Daugherty edited their review of STR: ATXN7_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 ATXN2_CAG Louise Daugherty edited their review of STR: ATXN2_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.176 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.176 PPP2R2B_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.176 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.175 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.175 HTT_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. Further comment: risk element- needs further discussion from data analysis from 100K Genomes Project.
Childhood onset hereditary spastic paraplegia v1.175 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.174 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.174 CACNA1A_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.174 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.173 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.173 ATXN7_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.173 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.172 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.172 ATXN3_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.172 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.171 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.171 ATXN2_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.171 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.170 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.170 ATXN1_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.170 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.169 FXN_GAA Louise Daugherty commented on STR: FXN_GAA: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May. Agreed to leave rating as Green.
Childhood onset hereditary spastic paraplegia v1.169 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.169 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.169 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.168 FXN Louise Daugherty Classified gene: FXN as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.168 FXN Louise Daugherty Gene: fxn has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.167 FXN Louise Daugherty gene: FXN was added
gene: FXN was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Review for gene: FXN was set to GREEN
Added comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV)
Sources: Expert Review
Childhood onset hereditary spastic paraplegia v1.166 WDR48 Louise Daugherty reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.166 VPS37A Louise Daugherty commented on gene: VPS37A: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 VAMP1 Louise Daugherty commented on gene: VAMP1: Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 TFG Louise Daugherty commented on gene: TFG: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 TECPR2 Louise Daugherty commented on gene: TECPR2: Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber gene with Green and Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 REEP2 Louise Daugherty commented on gene: REEP2: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 PSEN1 Louise Daugherty commented on gene: PSEN1: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 POLR3A Louise Daugherty commented on gene: POLR3A: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 MTPAP Louise Daugherty commented on gene: MTPAP: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 MARS2 Louise Daugherty commented on gene: MARS2: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 MAG Louise Daugherty commented on gene: MAG: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 LYST Louise Daugherty commented on gene: LYST: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 KIF1C Louise Daugherty commented on gene: KIF1C: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 KDM5C Louise Daugherty commented on gene: KDM5C: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 IBA57 Louise Daugherty commented on gene: IBA57: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 GJC2 Louise Daugherty commented on gene: GJC2: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 GCH1 Louise Daugherty commented on gene: GCH1: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.166 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.166 DSTYK Louise Daugherty commented on gene: DSTYK: Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 DARS Louise Daugherty commented on gene: DARS: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 CDK16 Louise Daugherty commented on gene: CDK16: Amber gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 CAPN1 Louise Daugherty commented on gene: CAPN1: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.166 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.166 AMPD2 Louise Daugherty commented on gene: AMPD2: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.165 WDR48 Louise Daugherty Source Expert Review Amber was added to WDR48.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 VPS37A Louise Daugherty Source Expert Review Amber was added to VPS37A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 VAMP1 Louise Daugherty Source Expert Review Amber was added to VAMP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 TFG Louise Daugherty Source Expert Review Green was added to TFG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 TECPR2 Louise Daugherty Source Expert Review Amber was added to TECPR2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 SLC33A1 Louise Daugherty Source Expert Review Red was added to SLC33A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.165 SLC25A46 Louise Daugherty Source Expert Review Amber was added to SLC25A46.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 REEP2 Louise Daugherty Source Expert Review Green was added to REEP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 KIF1C Louise Daugherty Source Expert Review Green was added to KIF1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 KDM5C Louise Daugherty Source Expert Review Green was added to KDM5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 GJC2 Louise Daugherty Source Expert Review Amber was added to GJC2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 GCH1 Louise Daugherty Source Expert Review Green was added to GCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 GAD1 Louise Daugherty Source Expert Review Amber was added to GAD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 ENTPD1 Louise Daugherty Source Expert Review Green was added to ENTPD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 DSTYK Louise Daugherty Source Expert Review Amber was added to DSTYK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 DARS Louise Daugherty Source Expert Review Green was added to DARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 CDK16 Louise Daugherty Source Expert Review Red was added to CDK16.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.165 CAPN1 Louise Daugherty Source Expert Review Green was added to CAPN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.165 ARL6IP1 Louise Daugherty Source Expert Review Amber was added to ARL6IP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.165 AP5Z1 Louise Daugherty Source Expert Review Green was added to AP5Z1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.164 L1CAM Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 NIPA1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 LYST Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 NKX6-2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 NT5C2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 OPA3 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 KIF1C Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 MAG Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 MARS2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 MTPAP Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 KDM5C Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 PLP1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 PNPLA6 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 PSEN1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 REEP1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 REEP2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 RTN2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SACS Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SERAC1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SLC16A2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SLC1A4 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SLC33A1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SLC25A46 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SPART Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SPAST Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SPG11 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SPG21 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 SPG7 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 TECPR2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 TFG Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 TUBB4A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 WASHC5 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 VAMP1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 WDR45B Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 UCHL1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 VPS37A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 CPT1C Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 POLR3A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 CDK16 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 HSPD1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.164 ABCD1 Louise Daugherty Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273
Childhood onset hereditary spastic paraplegia v1.163 ABCD1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.163 ADAR Louise Daugherty Publications for gene: ADAR were set to 25243380
Childhood onset hereditary spastic paraplegia v1.162 ADAR Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.162 AFG3L2 Louise Daugherty Publications for gene: AFG3L2 were set to
Childhood onset hereditary spastic paraplegia v1.161 AFG3L2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.161 AIMP1 Louise Daugherty Mode of inheritance for gene: AIMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.160 AIMP1 Louise Daugherty Publications for gene: AIMP1 were set to 21092922
Childhood onset hereditary spastic paraplegia v1.159 AIMP1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.159 ALDH18A1 Louise Daugherty Publications for gene: ALDH18A1 were set to
Childhood onset hereditary spastic paraplegia v1.158 ALDH18A1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.158 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, 607225 to Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100
Childhood onset hereditary spastic paraplegia v1.157 ALS2 Louise Daugherty Publications for gene: ALS2 were set to 12145748
Childhood onset hereditary spastic paraplegia v1.156 ALS2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.156 AMPD2 Louise Daugherty Phenotypes for gene: AMPD2 were changed from Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) to ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR
Childhood onset hereditary spastic paraplegia v1.155 AMPD2 Louise Daugherty Publications for gene: AMPD2 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.154 AMPD2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.154 AP4B1 Louise Daugherty Publications for gene: AP4B1 were set to 21620353
Childhood onset hereditary spastic paraplegia v1.153 AP4B1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.153 AP4E1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.153 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to 20972249
Childhood onset hereditary spastic paraplegia v1.152 AP4M1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.152 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to 19559397
Childhood onset hereditary spastic paraplegia v1.151 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to 21620353
Childhood onset hereditary spastic paraplegia v1.150 AP4S1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.150 AP5Z1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.150 AP5Z1 Louise Daugherty Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Childhood onset hereditary spastic paraplegia v1.149 ARG1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.149 ATL1 Louise Daugherty Publications for gene: ATL1 were set to 11685207
Childhood onset hereditary spastic paraplegia v1.148 ATL1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.148 ATP13A2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.148 ATP13A2 Louise Daugherty Publications for gene: ATP13A2 were set to 28137957; 27217339
Childhood onset hereditary spastic paraplegia v1.147 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to 23746551
Childhood onset hereditary spastic paraplegia v1.146 B4GALNT1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.146 BSCL2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.146 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to 13680364; 14981520
Childhood onset hereditary spastic paraplegia v1.145 C12orf65 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.145 C12orf65 Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spastic paraplegia 55, autosomal recessive, 615035 to Spastic paraplegia 55, autosomal recessive, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559
Childhood onset hereditary spastic paraplegia v1.144 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to 23188110
Childhood onset hereditary spastic paraplegia v1.143 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to 23857908
Childhood onset hereditary spastic paraplegia v1.142 C19orf12 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.142 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to 27153400
Childhood onset hereditary spastic paraplegia v1.141 CAPN1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.141 CYP27A1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.141 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to 23176821
Childhood onset hereditary spastic paraplegia v1.140 CYP2U1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.140 CYP7B1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.140 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to 19439420; 18252231
Childhood onset hereditary spastic paraplegia v1.139 DARS Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.139 DDHD1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.139 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to 23176821
Childhood onset hereditary spastic paraplegia v1.138 DDHD2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.138 DDHD2 Louise Daugherty Publications for gene: DDHD2 were set to 23176823
Childhood onset hereditary spastic paraplegia v1.137 DSTYK Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.137 ERLIN1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.137 ERLIN2 Louise Daugherty Publications for gene: ERLIN2 were set to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983
Childhood onset hereditary spastic paraplegia v1.136 ERLIN2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.136 FA2H Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.136 FA2H Louise Daugherty Publications for gene: FA2H were set to 19068277
Childhood onset hereditary spastic paraplegia v1.135 FARS2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.135 GBA2 Louise Daugherty Publications for gene: GBA2 were set to 23332916
Childhood onset hereditary spastic paraplegia v1.134 GBA2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.134 HACE1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.134 GCH1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.134 GJC2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.134 GJC2 Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Childhood onset hereditary spastic paraplegia v1.134 GJC2 Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Childhood onset hereditary spastic paraplegia v1.133 KIDINS220 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.133 KIDINS220 Louise Daugherty Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296
Childhood onset hereditary spastic paraplegia v1.132 KIDINS220 Louise Daugherty Publications for gene: KIDINS220 were set to
Childhood onset hereditary spastic paraplegia v1.131 IBA57 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.131 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213
Childhood onset hereditary spastic paraplegia v1.130 KIF1A Louise Daugherty Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.129 KIF1A Louise Daugherty Publications for gene: KIF1A were set to 21487076; 22258533
Childhood onset hereditary spastic paraplegia v1.128 KIF1A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.128 KCNA2 Louise Daugherty Publications for gene: KCNA2 were set to
Childhood onset hereditary spastic paraplegia v1.127 KCNA2 Louise Daugherty Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.126 KCNA2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.126 KIF5A Louise Daugherty Mode of inheritance for gene: KIF5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.125 KIF5A Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.125 L1CAM Louise Daugherty Publications for gene: L1CAM were set to 7920659
Childhood onset hereditary spastic paraplegia v1.124 NIPA1 Louise Daugherty Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.123 NIPA1 Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6,autosomal dominant, 600363 to Spastic paraplegia 6, autosomal dominant, 600363
Childhood onset hereditary spastic paraplegia v1.122 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to 15711826; 14508710
Childhood onset hereditary spastic paraplegia v1.121 NKX6-2 Louise Daugherty Publications for gene: NKX6-2 were set to 15601927; 28575651
Childhood onset hereditary spastic paraplegia v1.120 MARS2 Louise Daugherty Publications for gene: MARS2 were set to
Childhood onset hereditary spastic paraplegia v1.119 MARS2 Louise Daugherty Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.118 MTPAP Louise Daugherty Publications for gene: MTPAP were set to
Childhood onset hereditary spastic paraplegia v1.117 KDM5C Louise Daugherty Publications for gene: KDM5C were set to 10982473; 26919706; 15586325
Childhood onset hereditary spastic paraplegia v1.116 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to 18313024
Childhood onset hereditary spastic paraplegia v1.115 PSEN1 Louise Daugherty Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.114 REEP1 Louise Daugherty Publications for gene: REEP1 were set to 16826527
Childhood onset hereditary spastic paraplegia v1.113 REEP2 Louise Daugherty Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 to Spastic paraplegia 72, autosomal dominant,615625; Spastic paraplegia 72, autosomal recessive, 615625
Childhood onset hereditary spastic paraplegia v1.112 REEP2 Louise Daugherty Publications for gene: REEP2 were set to 24388663
Childhood onset hereditary spastic paraplegia v1.111 RTN2 Louise Daugherty Publications for gene: RTN2 were set to 22232211
Childhood onset hereditary spastic paraplegia v1.110 SACS Louise Daugherty Publications for gene: SACS were set to
Childhood onset hereditary spastic paraplegia v1.109 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to 12871948
Childhood onset hereditary spastic paraplegia v1.108 SLC33A1 Louise Daugherty Publications for gene: SLC33A1 were set to Lin et al. (2008)
Childhood onset hereditary spastic paraplegia v1.107 SPART Louise Daugherty Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 to Troyer syndrome, 275900; Spastic paraplegia 20
Childhood onset hereditary spastic paraplegia v1.106 SPART Louise Daugherty Publications for gene: SPART were set to 12134148
Childhood onset hereditary spastic paraplegia v1.105 SPAST Louise Daugherty Publications for gene: SPAST were set to Hazan et al (1999)
Childhood onset hereditary spastic paraplegia v1.104 SPAST Louise Daugherty Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, 182601
Childhood onset hereditary spastic paraplegia v1.103 SPG21 Louise Daugherty Publications for gene: SPG21 were set to 14564668
Childhood onset hereditary spastic paraplegia v1.102 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211
Childhood onset hereditary spastic paraplegia v1.101 VAMP1 Louise Daugherty Publications for gene: VAMP1 were set to 22958904
Childhood onset hereditary spastic paraplegia v1.100 UCHL1 Louise Daugherty Publications for gene: UCHL1 were set to
Childhood onset hereditary spastic paraplegia v1.99 VPS37A Louise Daugherty Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Childhood onset hereditary spastic paraplegia v1.98 VPS37A Louise Daugherty Phenotypes for gene: VPS37A were changed from Spastic paraplegia 53, autosomal recessive to Spastic paraplegia 53, 614898, AR
Childhood onset hereditary spastic paraplegia v1.97 CPT1C Louise Daugherty Mode of inheritance for gene: CPT1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.96 CPT1C Louise Daugherty Publications for gene: CPT1C were set to
Childhood onset hereditary spastic paraplegia v1.95 POLR3A Louise Daugherty Publications for gene: POLR3A were set to 25655951; 21855841
Childhood onset hereditary spastic paraplegia v1.94 ARL6IP1 Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia
Childhood onset hereditary spastic paraplegia v1.93 ARL6IP1 Louise Daugherty Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.92 CDK16 Louise Daugherty Phenotypes for gene: CDK16 were changed from Intellectual disability and spastic paraplegia to Intellectual disability and spastic paraplegia, x-linked
Childhood onset hereditary spastic paraplegia v1.91 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to 17420924; 10677329
Childhood onset hereditary spastic paraplegia v1.90 ENTPD1 Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64, 615683
Childhood onset hereditary spastic paraplegia v1.89 ENTPD1 Louise Daugherty Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.88 GAD1 Louise Daugherty Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1,603513 to Cerebralpalsy, spasticquadriplegic, 1, 603513
Childhood onset hereditary spastic paraplegia v1.87 GAD1 Louise Daugherty Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.86 WDR48 Louise Daugherty Phenotypes for gene: WDR48 were changed from to spastic paraplegia
Childhood onset hereditary spastic paraplegia v1.85 WDR48 Louise Daugherty Publications for gene: WDR48 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.84 ARSI Louise Daugherty Publications for gene: ARSI were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.83 CCT5 Louise Daugherty Publications for gene: CCT5 were set to
Childhood onset hereditary spastic paraplegia v1.82 KLC4 Louise Daugherty Mode of inheritance for gene: KLC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.81 MARS Louise Daugherty Publications for gene: MARS were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.80 PCDH12 Louise Daugherty Publications for gene: PCDH12 were set to 27164683
Childhood onset hereditary spastic paraplegia v1.79 PGAP1 Louise Daugherty Publications for gene: PGAP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.78 USP8 Louise Daugherty Publications for gene: USP8 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v1.77 ZFYVE27 Louise Daugherty Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Childhood onset hereditary spastic paraplegia v1.76 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Childhood onset hereditary spastic paraplegia v1.76 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Childhood onset hereditary spastic paraplegia v1.76 UBAP1 Louise Daugherty Source NHS GMS was added to UBAP1.
Childhood onset hereditary spastic paraplegia v1.76 ENTPD1 Louise Daugherty Source NHS GMS was added to ENTPD1.
Childhood onset hereditary spastic paraplegia v1.76 GAD1 Louise Daugherty Source NHS GMS was added to GAD1.
Childhood onset hereditary spastic paraplegia v1.76 WDR48 Louise Daugherty Source NHS GMS was added to WDR48.
Childhood onset hereditary spastic paraplegia v1.76 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Childhood onset hereditary spastic paraplegia v1.76 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Childhood onset hereditary spastic paraplegia v1.76 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.76 MARS Louise Daugherty Source NHS GMS was added to MARS.
Childhood onset hereditary spastic paraplegia v1.76 PCDH12 Louise Daugherty Source NHS GMS was added to PCDH12.
Childhood onset hereditary spastic paraplegia v1.76 PGAP1 Louise Daugherty Source NHS GMS was added to PGAP1.
Childhood onset hereditary spastic paraplegia v1.76 RAB3GAP2 Louise Daugherty Source NHS GMS was added to RAB3GAP2.
Childhood onset hereditary spastic paraplegia v1.76 USP8 Louise Daugherty Source NHS GMS was added to USP8.
Childhood onset hereditary spastic paraplegia v1.76 ZEB2 Louise Daugherty Source NHS GMS was added to ZEB2.
Childhood onset hereditary spastic paraplegia v1.76 ZFYVE27 Louise Daugherty Source NHS GMS was added to ZFYVE27.
Childhood onset hereditary spastic paraplegia v1.75 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Childhood onset hereditary spastic paraplegia v1.75 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Childhood onset hereditary spastic paraplegia v1.75 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.75 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Childhood onset hereditary spastic paraplegia v1.75 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Childhood onset hereditary spastic paraplegia v1.75 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Childhood onset hereditary spastic paraplegia v1.75 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Childhood onset hereditary spastic paraplegia v1.75 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Childhood onset hereditary spastic paraplegia v1.75 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Childhood onset hereditary spastic paraplegia v1.75 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.75 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.75 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.75 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Childhood onset hereditary spastic paraplegia v1.75 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Childhood onset hereditary spastic paraplegia v1.75 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Childhood onset hereditary spastic paraplegia v1.75 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.75 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Childhood onset hereditary spastic paraplegia v1.75 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.75 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.75 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Childhood onset hereditary spastic paraplegia v1.75 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Childhood onset hereditary spastic paraplegia v1.75 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.75 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.75 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Childhood onset hereditary spastic paraplegia v1.75 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.75 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Childhood onset hereditary spastic paraplegia v1.75 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Childhood onset hereditary spastic paraplegia v1.75 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Childhood onset hereditary spastic paraplegia v1.75 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Childhood onset hereditary spastic paraplegia v1.75 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.75 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Childhood onset hereditary spastic paraplegia v1.75 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.75 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Childhood onset hereditary spastic paraplegia v1.75 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Childhood onset hereditary spastic paraplegia v1.75 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Childhood onset hereditary spastic paraplegia v1.75 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Childhood onset hereditary spastic paraplegia v1.75 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Childhood onset hereditary spastic paraplegia v1.75 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Childhood onset hereditary spastic paraplegia v1.75 KCNA2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Childhood onset hereditary spastic paraplegia v1.75 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Childhood onset hereditary spastic paraplegia v1.75 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.75 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Childhood onset hereditary spastic paraplegia v1.75 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.75 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.75 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Childhood onset hereditary spastic paraplegia v1.75 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Childhood onset hereditary spastic paraplegia v1.75 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Childhood onset hereditary spastic paraplegia v1.75 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Childhood onset hereditary spastic paraplegia v1.75 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.75 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Childhood onset hereditary spastic paraplegia v1.75 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Childhood onset hereditary spastic paraplegia v1.75 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.75 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Childhood onset hereditary spastic paraplegia v1.75 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.75 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Childhood onset hereditary spastic paraplegia v1.75 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.75 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Childhood onset hereditary spastic paraplegia v1.75 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Childhood onset hereditary spastic paraplegia v1.75 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.75 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Childhood onset hereditary spastic paraplegia v1.75 SLC33A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.75 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Childhood onset hereditary spastic paraplegia v1.75 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Childhood onset hereditary spastic paraplegia v1.75 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Childhood onset hereditary spastic paraplegia v1.75 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Childhood onset hereditary spastic paraplegia v1.75 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Childhood onset hereditary spastic paraplegia v1.75 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Childhood onset hereditary spastic paraplegia v1.75 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.75 TECPR2 Louise Daugherty Source Yorkshire and North East GLH was added to TECPR2.
Childhood onset hereditary spastic paraplegia v1.75 TFG Louise Daugherty Source Yorkshire and North East GLH was added to TFG.
Childhood onset hereditary spastic paraplegia v1.75 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Childhood onset hereditary spastic paraplegia v1.75 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.75 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Childhood onset hereditary spastic paraplegia v1.75 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.75 UCHL1 Louise Daugherty Source Yorkshire and North East GLH was added to UCHL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 VPS37A Louise Daugherty Source Yorkshire and North East GLH was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.75 CPT1C Louise Daugherty Source Yorkshire and North East GLH was added to CPT1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Childhood onset hereditary spastic paraplegia v1.75 UBAP1 Louise Daugherty Source Yorkshire and North East GLH was added to UBAP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.75 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Childhood onset hereditary spastic paraplegia v1.75 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Childhood onset hereditary spastic paraplegia v1.75 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Childhood onset hereditary spastic paraplegia v1.75 WDR48 Louise Daugherty Source Yorkshire and North East GLH was added to WDR48.
Childhood onset hereditary spastic paraplegia v1.75 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Childhood onset hereditary spastic paraplegia v1.75 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Childhood onset hereditary spastic paraplegia v1.75 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.75 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Childhood onset hereditary spastic paraplegia v1.75 PCDH12 Louise Daugherty Source Yorkshire and North East GLH was added to PCDH12.
Childhood onset hereditary spastic paraplegia v1.75 PGAP1 Louise Daugherty Source Yorkshire and North East GLH was added to PGAP1.
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 v1.75 USP8 Louise Daugherty Source Yorkshire and North East GLH was added to USP8.
Childhood onset hereditary spastic paraplegia v1.75 ZEB2 Louise Daugherty Source Yorkshire and North East GLH was added to ZEB2.
Childhood onset hereditary spastic paraplegia v1.75 ZFYVE27 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE27.
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE27 Nick Beauchamp reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 22554690, 29980238; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ZEB2 Nick Beauchamp reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.74 USP8 Nick Beauchamp reviewed gene: USP8: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 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 v1.74 PGAP1 Nick Beauchamp reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PCDH12 Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 WDR48 Nick Beauchamp reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 29691679; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.74 UBAP1 Nick Beauchamp reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929741; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 24482476, 28471035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 CPT1C Nick Beauchamp reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: ; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Nick Beauchamp reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 TFG Nick Beauchamp reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 TECPR2 Nick Beauchamp reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPART Nick Beauchamp reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Nick Beauchamp reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SACS Nick Beauchamp reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 20876471; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MAG Nick Beauchamp reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 LYST Nick Beauchamp reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 7920659, 7920660, 7562969; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12355402, 16476820; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KCNA2 Nick Beauchamp reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Louise Daugherty commented on gene: VPS37A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 VAMP1 Louise Daugherty commented on gene: VAMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Louise Daugherty commented on gene: UCHL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TUBB4A Louise Daugherty commented on gene: TUBB4A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TFG Louise Daugherty commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TECPR2 Louise Daugherty commented on gene: TECPR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Louise Daugherty commented on gene: SPG7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG21 Louise Daugherty commented on gene: SPG21: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG11 Louise Daugherty commented on gene: SPG11: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPAST Louise Daugherty commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPART Louise Daugherty commented on gene: SPART: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SERAC1 Louise Daugherty commented on gene: SERAC1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SACS Louise Daugherty commented on gene: SACS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Louise Daugherty commented on gene: RTN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 REEP2 Louise Daugherty commented on gene: REEP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Louise Daugherty commented on gene: REEP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PSEN1 Louise Daugherty commented on gene: PSEN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 POLR3A Louise Daugherty commented on gene: POLR3A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PLP1 Louise Daugherty commented on gene: PLP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 OPA3 Louise Daugherty commented on gene: OPA3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Louise Daugherty commented on gene: NT5C2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Louise Daugherty commented on gene: MTPAP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MARS2 Louise Daugherty commented on gene: MARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MAG Louise Daugherty commented on gene: MAG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 LYST Louise Daugherty commented on gene: LYST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 L1CAM Louise Daugherty commented on gene: L1CAM: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF5A Louise Daugherty commented on gene: KIF5A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF1C Louise Daugherty commented on gene: KIF1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KDM5C Louise Daugherty commented on gene: KDM5C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KCNA2 Louise Daugherty commented on gene: KCNA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 IBA57 Louise Daugherty commented on gene: IBA57: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 HACE1 Louise Daugherty commented on gene: HACE1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GJC2 Louise Daugherty commented on gene: GJC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GCH1 Louise Daugherty commented on gene: GCH1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Louise Daugherty commented on gene: GBA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 FARS2 Louise Daugherty commented on gene: FARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 FA2H Louise Daugherty commented on gene: FA2H: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DSTYK Louise Daugherty commented on gene: DSTYK: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DDHD2 Louise Daugherty commented on gene: DDHD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DARS Louise Daugherty commented on gene: DARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CPT1C Louise Daugherty commented on gene: CPT1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Louise Daugherty commented on gene: CDK16: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 BSCL2 Louise Daugherty commented on gene: BSCL2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ATL1 Louise Daugherty commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ARG1 Louise Daugherty commented on gene: ARG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4B1 Louise Daugherty commented on gene: AP4B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ALS2 Louise Daugherty commented on gene: ALS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AIMP1 Louise Daugherty commented on gene: AIMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ADAR Louise Daugherty commented on gene: ADAR: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.73 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679, 29528531; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp Deleted their review
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176823, 23486545, 25417924; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DARS Nick Beauchamp reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101804, 22022284, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.73 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Classified gene: VPS37A as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Gene: vps37a has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.71 VPS37A Louise Daugherty commented on gene: VPS37A: Red rating on Hereditary spastic paraplegia panel 1.198

Comment when marking as ready: single founder Arab mutation further evidence required. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty commented on gene: VAMP1: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017

Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017

Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty Classified gene: VAMP1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty Gene: vamp1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.69 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
Childhood onset hereditary spastic paraplegia v1.68 TFG Louise Daugherty commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198

Beetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single Indian family currently described in association with HSP
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty commented on gene: TECPR2: Red rating on Hereditary spastic paraplegia panel 1.198

Oz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.
Rebecca Foulger (Genomics England curator), 31 Oct 2017

Comment when marking as ready: limited evidence founder Jewish mutation
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty Classified gene: TECPR2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty Gene: tecpr2 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green review.

Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP
emma baple (Genomics England Curator), 10 May 2016

A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.66 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Green rating on Hereditary spastic paraplegia panel 1.198
Associated with phenotype in OMIM, not in G2P. At least 10 variants reported
Sarah Leigh (Genomics England Curator), 15 Sep 2017
Childhood onset hereditary spastic paraplegia v1.66 REEP2 Louise Daugherty Classified gene: REEP2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.66 REEP2 Louise Daugherty Gene: reep2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.65 REEP2 Louise Daugherty commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198

Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

Comment on list classification: changed from red to amber based on upon two families
Louise Daugherty (Genomics England Curator), 30 Nov 2017

Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663)
Louise Daugherty (Genomics England Curator), 27 Nov 2017
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty commented on gene: PSEN1: Red rating on Hereditary spastic paraplegia panel 1.198.

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green rating.

Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating.
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty Classified gene: PSEN1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty Gene: psen1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.64 POLR3A Louise Daugherty Classified gene: POLR3A as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.64 POLR3A Louise Daugherty Gene: polr3a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.63 POLR3A Louise Daugherty Classified gene: POLR3A as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.63 POLR3A Louise Daugherty Gene: polr3a has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.62 POLR3A Louise Daugherty commented on gene: POLR3A: Red review in file submitted by James Polke but comment denoted Green rating. Need to confirm Green rating so currently rated as Amber.
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198

2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.61 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.61 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.60 MARS2 Louise Daugherty commented on gene: MARS2: Amber rating on Hereditary spastic paraplegia panel 1.198


Bayat (2012, 22448145) Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (2–59). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review.

helen kingston (CMFT NHS Foundation Trust, Manchester) Submitted Green review.
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty commented on gene: MAG: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Red rating.
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty Classified gene: MAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty Gene: mag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty commented on gene: KIF1C: Amber rating on Hereditary spastic paraplegia panel 1.198

More familailes listed on OMIM (Nov 2018): In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed. In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007).
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018 Amber rating submitted

One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed
Alice Gardham (Genomics England), 19 Jan 2017

Comment when marking as ready: Still only limited evidence
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty commented on gene: KDM5C: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:15586325 (Jensen 2005) identifed a L731F variant in 4 members of a family with X-linked complicated spastic paraplegia previously described by Claes et al (2000, PMID:10982473).
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Red rating submitted
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty Classified gene: KDM5C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted.
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty Classified gene: IBA57 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty Gene: iba57 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198

Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted.

This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).
Ellen McDonagh (Genomics England Curator), 14 Jun 2016

Only a single family described with this phenotype, many more cases with the above phenotypes
emma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty Classified gene: GJC2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty Gene: gjc2 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty commented on gene: GCH1: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).
Rebecca Foulger (Genomics England curator), 28 Jan 2019

Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24509643 (Fan et al 2014) identified a heterozygous GCH1 variant (R216X) by WES in a patient presenting with progressive spastic paraplegia. The R216X variant had been previously reported as causal for dopa-responsive dystonia (MIM:128230), a phenotype that can resemble HSP.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Fan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Green rating submitted.
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty Classified gene: GCH1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty Gene: gch1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.53 DSTYK Louise Daugherty Classified gene: DSTYK as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.53 DSTYK Louise Daugherty Gene: dstyk has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.52 DSTYK Louise Daugherty commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association.
Rebecca Foulger (Genomics England curator), 11 May 2017

In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region.
Rebecca Foulger (Genomics England curator), 11 May 2017
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty commented on gene: DARS: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Wolf (2015, 25527264) report 3 patients with variants in DARS. One patient had typical infantile presentation but 2 patients with onset in late adolescence presented with subacute spastic paraplegia. Patient 1 was compound heterozygous for c.599C>G; p.Ser200Cys and c.830C>T; p.Ser277Phe. Patient 2 was homozygous for c.1277T>C; p.Leu426Ser, and patient 3 compound heterozygous for c.839A>T; p.His280Leu and c.1099G>C; p.Asp367His.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

HGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia. Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty Classified gene: DARS as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty Gene: dars has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.51 CDK16 Louise Daugherty commented on gene: CDK16: Amber rating on Hereditary spastic paraplegia panel 1.198
Not associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male.
Sarah Leigh (Genomics England Curator), 19 Dec 2017
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Rated Red on Hereditary spastic paraplegia panel 1.198.

Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018

Red rating: Only one family described to date, further evidence required.
emma baple (Genomics England Curator), 7 Feb 2016
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198

nonsense variant in single family in exome study. Low evidence
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single family only - more evidence required
emma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED
Childhood onset hereditary spastic paraplegia v1.50 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.50 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.49 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Sources: Literature
Childhood onset hereditary spastic paraplegia v1.48 GCH1 Louise Daugherty commented on gene: GCH1: Green Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SLC33A1 Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 HSPD1 Louise Daugherty edited their review of gene: HSPD1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.48 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CPT1C Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 CAPN1 Louise Daugherty edited their review of gene: CAPN1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.48 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AIMP1 Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.48 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.47 DARS Louise Daugherty Classified gene: DARS as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.47 DARS Louise Daugherty Gene: dars has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.46 GCH1 Louise Daugherty Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.45 GCH1 Louise Daugherty Classified gene: GCH1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.45 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.44 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.44 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.43 KDM5C Louise Daugherty Classified gene: KDM5C as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.43 KDM5C Louise Daugherty Gene: kdm5c has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.42 LYST Louise Daugherty Classified gene: LYST as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.42 LYST Louise Daugherty Gene: lyst has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.41 MAG Louise Daugherty Classified gene: MAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.41 MAG Louise Daugherty Gene: mag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.40 REEP2 Louise Daugherty Classified gene: REEP2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.40 REEP2 Louise Daugherty Gene: reep2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.39 VAMP1 Louise Daugherty Classified gene: VAMP1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.39 VAMP1 Louise Daugherty Gene: vamp1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.38 UCHL1 Louise Daugherty Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, 615491, AR
Childhood onset hereditary spastic paraplegia v1.37 UCHL1 Louise Daugherty Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.36 UCHL1 Louise Daugherty Classified gene: UCHL1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.36 UCHL1 Louise Daugherty Gene: uchl1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.35 TFG Louise Daugherty Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Childhood onset hereditary spastic paraplegia v1.34 TFG Louise Daugherty Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.33 TFG Louise Daugherty Classified gene: TFG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.33 TFG Louise Daugherty Gene: tfg has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.32 TECPR2 Louise Daugherty Classified gene: TECPR2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.32 TECPR2 Louise Daugherty Gene: tecpr2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.31 SLC33A1 Louise Daugherty Phenotypes for gene: SLC33A1 were changed from Spastic paraplegia 42, autosomal dominant, to Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR; Spastic paraplegia 42, autosomal dominant
Childhood onset hereditary spastic paraplegia v1.30 SLC33A1 Louise Daugherty Mode of inheritance for gene: SLC33A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.29 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.29 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.28 PSEN1 Louise Daugherty Classified gene: PSEN1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.28 PSEN1 Louise Daugherty Gene: psen1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.27 MTPAP Louise Daugherty Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive; ?Spastic ataxia 4, autosomal recessive, 613672
Childhood onset hereditary spastic paraplegia v1.26 MTPAP Louise Daugherty Classified gene: MTPAP as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.26 MTPAP Louise Daugherty Gene: mtpap has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.25 MARS2 Louise Daugherty Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390
Childhood onset hereditary spastic paraplegia v1.24 MARS2 Louise Daugherty Classified gene: MARS2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.24 MARS2 Louise Daugherty Gene: mars2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.23 KIF1C Louise Daugherty Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, 611302
Childhood onset hereditary spastic paraplegia v1.22 KIF1C Louise Daugherty Classified gene: KIF1C as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.22 KIF1C Louise Daugherty Gene: kif1c has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.21 KCNA2 Louise Daugherty Phenotypes for gene: KCNA2 were changed from to hereditary spastic paraplegia and ataxia
Childhood onset hereditary spastic paraplegia v1.20 KCNA2 Louise Daugherty Classified gene: KCNA2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.20 KCNA2 Louise Daugherty Gene: kcna2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.19 GJC2 Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating,2, 608804, AR; Spastic paraplegia 44, autosomal recessive, 613206, AR; Lymphatic malformation 3, 613480, AD
Childhood onset hereditary spastic paraplegia v1.18 GJC2 Louise Daugherty Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.17 GJC2 Louise Daugherty Classified gene: GJC2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.17 GJC2 Louise Daugherty Gene: gjc2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.16 DSTYK Louise Daugherty Classified gene: DSTYK as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.16 DSTYK Louise Daugherty Gene: dstyk has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.15 DSTYK Louise Daugherty Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 to Spastic paraplegia 23, 270750; ongenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750, AR
Childhood onset hereditary spastic paraplegia v1.14 DSTYK Louise Daugherty Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.13 CPT1C Louise Daugherty Classified gene: CPT1C as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.13 CPT1C Louise Daugherty Gene: cpt1c has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.12 CPT1C Louise Daugherty Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD
Childhood onset hereditary spastic paraplegia v1.11 CPT1C Louise Daugherty Mode of inheritance for gene: CPT1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.10 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.10 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.9 AMPD2 Louise Daugherty Classified gene: AMPD2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.9 AMPD2 Louise Daugherty Gene: ampd2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.8 VPS37A Louise Daugherty Classified gene: VPS37A as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.8 VPS37A Louise Daugherty Gene: vps37a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.7 GCH1 Michael Bonello reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 FXN_GAA Louise Daugherty commented on STR: FXN_GAA: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.6 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 WDR45B James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations, Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 WASHC5 James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 VPS37A James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive 614898, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 VAMP1 James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 UCHL1 James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 4, torsion, autosomal dominant, 128101, Leukodystrophy, hypomyelinating, Mast syndrome, 248900 SPATI, AD, 612438, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, 615658, AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 TECPR2 James Polke reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive -Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 SPART James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SLC33A1 James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR, Spastic paraplegia 42, autosomal dominant 612539, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.6 SERAC1 James Polke reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant 614739, MEGDEL syndrome, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 RTN2 James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 REEP2 James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Recessive Ataxia, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 PLP1 James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.6 OPA3 James Polke reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 NT5C2 James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 NIPA1 James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 MTPAP James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 MARS2 James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 MAG James Polke reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 L1CAM James Polke reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.6 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 KIF1C James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 KDM5C James Polke reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset hereditary spastic paraplegia v1.6 KCNA2 James Polke reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hereditary spastic paraplegia and ataxia; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 IBA57 James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 HSPD1 James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 HACE1 James Polke reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 GJC2 James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating,2, 608804, AR, Spastic paraplegia 44, autosomal recessive, 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 GCH1 James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 FARS2 James Polke reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 FA2H James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ERLIN1 James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 DSTYK James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 DDHD2 James Polke reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 DDHD1 James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 DARS James Polke reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 CPT1C James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.6 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55,autosomal recessive,615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 BSCL2 James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ATL1 James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600, autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.6 ARG1 James Polke reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AP5Z1 James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive 613647, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AP4S1 James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AP4M1 James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AP4E1 James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AP4B1 James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AMPD2 James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150 , ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AIMP1 James Polke reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive. Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ADAR James Polke reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, autosomal recessive, Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.6 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset hereditary spastic paraplegia v1.5 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Childhood onset hereditary spastic paraplegia v1.5 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.5 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.5 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.5 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Childhood onset hereditary spastic paraplegia v1.5 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Childhood onset hereditary spastic paraplegia v1.5 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Childhood onset hereditary spastic paraplegia v1.5 TFG Louise Daugherty Source NHS GMS was added to TFG.
Childhood onset hereditary spastic paraplegia v1.5 TECPR2 Louise Daugherty Source NHS GMS was added to TECPR2.
Childhood onset hereditary spastic paraplegia v1.5 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.5 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Childhood onset hereditary spastic paraplegia v1.5 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Childhood onset hereditary spastic paraplegia v1.5 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Childhood onset hereditary spastic paraplegia v1.5 SPART Louise Daugherty Source NHS GMS was added to SPART.
Childhood onset hereditary spastic paraplegia v1.5 SLC33A1 Louise Daugherty Source NHS GMS was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.5 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Childhood onset hereditary spastic paraplegia v1.5 SLC1A4 Louise Daugherty Source NHS GMS was added to SLC1A4.
Childhood onset hereditary spastic paraplegia v1.5 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.5 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Childhood onset hereditary spastic paraplegia v1.5 SACS Louise Daugherty Source NHS GMS was added to SACS.
Childhood onset hereditary spastic paraplegia v1.5 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.5 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Childhood onset hereditary spastic paraplegia v1.5 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.5 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Childhood onset hereditary spastic paraplegia v1.5 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Childhood onset hereditary spastic paraplegia v1.5 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.5 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Childhood onset hereditary spastic paraplegia v1.5 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Childhood onset hereditary spastic paraplegia v1.5 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.5 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.5 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.5 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.5 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Childhood onset hereditary spastic paraplegia v1.5 MAG Louise Daugherty Source NHS GMS was added to MAG.
Childhood onset hereditary spastic paraplegia v1.5 LYST Louise Daugherty Source NHS GMS was added to LYST.
Childhood onset hereditary spastic paraplegia v1.5 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Childhood onset hereditary spastic paraplegia v1.5 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Childhood onset hereditary spastic paraplegia v1.5 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Childhood onset hereditary spastic paraplegia v1.5 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Childhood onset hereditary spastic paraplegia v1.5 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Childhood onset hereditary spastic paraplegia v1.5 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Childhood onset hereditary spastic paraplegia v1.5 KCNA2 Louise Daugherty Source NHS GMS was added to KCNA2.
Childhood onset hereditary spastic paraplegia v1.5 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Childhood onset hereditary spastic paraplegia v1.5 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Childhood onset hereditary spastic paraplegia v1.5 HACE1 Louise Daugherty Source NHS GMS was added to HACE1.
Childhood onset hereditary spastic paraplegia v1.5 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Childhood onset hereditary spastic paraplegia v1.5 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Childhood onset hereditary spastic paraplegia v1.5 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.5 FARS2 Louise Daugherty Source NHS GMS was added to FARS2.
Childhood onset hereditary spastic paraplegia v1.5 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.5 ERLIN2 Louise Daugherty Source NHS GMS was added to ERLIN2.
Childhood onset hereditary spastic paraplegia v1.5 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Childhood onset hereditary spastic paraplegia v1.5 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Childhood onset hereditary spastic paraplegia v1.5 DDHD2 Louise Daugherty Source NHS GMS was added to DDHD2.
Childhood onset hereditary spastic paraplegia v1.5 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.5 DARS Louise Daugherty Source NHS GMS was added to DARS.
Childhood onset hereditary spastic paraplegia v1.5 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.5 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.5 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Childhood onset hereditary spastic paraplegia v1.5 CPT1C Louise Daugherty Source NHS GMS was added to CPT1C.
Childhood onset hereditary spastic paraplegia v1.5 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.5 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Childhood onset hereditary spastic paraplegia v1.5 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.5 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.5 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Childhood onset hereditary spastic paraplegia v1.5 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.5 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Childhood onset hereditary spastic paraplegia v1.5 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Childhood onset hereditary spastic paraplegia v1.5 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Childhood onset hereditary spastic paraplegia v1.5 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.5 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.5 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.5 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Childhood onset hereditary spastic paraplegia v1.5 AP4B1 Louise Daugherty Source NHS GMS was added to AP4B1.
Childhood onset hereditary spastic paraplegia v1.5 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Childhood onset hereditary spastic paraplegia v1.5 ALS2 Louise Daugherty Source NHS GMS was added to ALS2.
Childhood onset hereditary spastic paraplegia v1.5 ALDH18A1 Louise Daugherty Source NHS GMS was added to ALDH18A1.
Childhood onset hereditary spastic paraplegia v1.5 AIMP1 Louise Daugherty Source NHS GMS was added to AIMP1.
Childhood onset hereditary spastic paraplegia v1.5 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.5 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Childhood onset hereditary spastic paraplegia v1.5 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Childhood onset hereditary spastic paraplegia v1.4 ZFYVE26 Louise Daugherty Source London North GLH was added to ZFYVE26.
Childhood onset hereditary spastic paraplegia v1.4 WDR45B Louise Daugherty Source London North GLH was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.4 WASHC5 Louise Daugherty Source London North GLH was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.4 VPS37A Louise Daugherty Source London North GLH was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.4 VAMP1 Louise Daugherty Source London North GLH was added to VAMP1.
Childhood onset hereditary spastic paraplegia v1.4 UCHL1 Louise Daugherty gene: UCHL1 was added
gene: UCHL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH
Mode of inheritance for gene: UCHL1 was set to
Childhood onset hereditary spastic paraplegia v1.4 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Childhood onset hereditary spastic paraplegia v1.4 TFG Louise Daugherty Source London North GLH was added to TFG.
Childhood onset hereditary spastic paraplegia v1.4 TECPR2 Louise Daugherty Source London North GLH was added to TECPR2.
Childhood onset hereditary spastic paraplegia v1.4 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.4 SPG21 Louise Daugherty Source London North GLH was added to SPG21.
Childhood onset hereditary spastic paraplegia v1.4 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Childhood onset hereditary spastic paraplegia v1.4 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Childhood onset hereditary spastic paraplegia v1.4 SPART Louise Daugherty Source London North GLH was added to SPART.
Childhood onset hereditary spastic paraplegia v1.4 SLC33A1 Louise Daugherty Source London North GLH was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.4 SLC25A46 Louise Daugherty Source London North GLH was added to SLC25A46.
Childhood onset hereditary spastic paraplegia v1.4 SLC1A4 Louise Daugherty Source London North GLH was added to SLC1A4.
Childhood onset hereditary spastic paraplegia v1.4 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.4 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Childhood onset hereditary spastic paraplegia v1.4 SACS Louise Daugherty Source London North GLH was added to SACS.
Childhood onset hereditary spastic paraplegia v1.4 RTN2 Louise Daugherty Source London North GLH was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.4 REEP2 Louise Daugherty Source London North GLH was added to REEP2.
Childhood onset hereditary spastic paraplegia v1.4 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.4 PSEN1 Louise Daugherty Source London North GLH was added to PSEN1.
Childhood onset hereditary spastic paraplegia v1.4 POLR3A Louise Daugherty Source London North GLH was added to POLR3A.
Childhood onset hereditary spastic paraplegia v1.4 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.4 PLP1 Louise Daugherty Source London North GLH was added to PLP1.
Childhood onset hereditary spastic paraplegia v1.4 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Childhood onset hereditary spastic paraplegia v1.4 NT5C2 Louise Daugherty Source London North GLH was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.4 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.4 NIPA1 Louise Daugherty Source London North GLH was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.4 MTPAP Louise Daugherty Source London North GLH was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.4 MARS2 Louise Daugherty Source London North GLH was added to MARS2.
Childhood onset hereditary spastic paraplegia v1.4 MAG Louise Daugherty Source London North GLH was added to MAG.
Childhood onset hereditary spastic paraplegia v1.4 LYST Louise Daugherty Source London North GLH was added to LYST.
Childhood onset hereditary spastic paraplegia v1.4 L1CAM Louise Daugherty Source London North GLH was added to L1CAM.
Childhood onset hereditary spastic paraplegia v1.4 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Childhood onset hereditary spastic paraplegia v1.4 KIF1C Louise Daugherty Source London North GLH was added to KIF1C.
Childhood onset hereditary spastic paraplegia v1.4 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Childhood onset hereditary spastic paraplegia v1.4 KIDINS220 Louise Daugherty Source London North GLH was added to KIDINS220.
Childhood onset hereditary spastic paraplegia v1.4 KDM5C Louise Daugherty Source London North GLH was added to KDM5C.
Childhood onset hereditary spastic paraplegia v1.4 KCNA2 Louise Daugherty gene: KCNA2 was added
gene: KCNA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH
Mode of inheritance for gene: KCNA2 was set to
Childhood onset hereditary spastic paraplegia v1.4 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Childhood onset hereditary spastic paraplegia v1.4 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Childhood onset hereditary spastic paraplegia v1.4 HACE1 Louise Daugherty Source London North GLH was added to HACE1.
Childhood onset hereditary spastic paraplegia v1.4 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Childhood onset hereditary spastic paraplegia v1.4 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Childhood onset hereditary spastic paraplegia v1.4 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.4 FARS2 Louise Daugherty Source London North GLH was added to FARS2.
Childhood onset hereditary spastic paraplegia v1.4 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.4 ERLIN2 Louise Daugherty Source London North GLH was added to ERLIN2.
Childhood onset hereditary spastic paraplegia v1.4 ERLIN1 Louise Daugherty Source London North GLH was added to ERLIN1.
Childhood onset hereditary spastic paraplegia v1.4 DSTYK Louise Daugherty Source London North GLH was added to DSTYK.
Childhood onset hereditary spastic paraplegia v1.4 DDHD2 Louise Daugherty Source London North GLH was added to DDHD2.
Childhood onset hereditary spastic paraplegia v1.4 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.4 DARS Louise Daugherty Source London North GLH was added to DARS.
Childhood onset hereditary spastic paraplegia v1.4 CYP7B1 Louise Daugherty Source London North GLH was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.4 CYP2U1 Louise Daugherty Source London North GLH was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.4 CYP27A1 Louise Daugherty Source London North GLH was added to CYP27A1.
Childhood onset hereditary spastic paraplegia v1.4 CPT1C Louise Daugherty gene: CPT1C was added
gene: CPT1C was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH
Mode of inheritance for gene: CPT1C was set to
Childhood onset hereditary spastic paraplegia v1.4 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.4 CAPN1 Louise Daugherty Source London North GLH was added to CAPN1.
Childhood onset hereditary spastic paraplegia v1.4 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.4 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.4 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Childhood onset hereditary spastic paraplegia v1.4 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.4 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Childhood onset hereditary spastic paraplegia v1.4 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Childhood onset hereditary spastic paraplegia v1.4 ARG1 Louise Daugherty Source London North GLH was added to ARG1.
Childhood onset hereditary spastic paraplegia v1.4 AP5Z1 Louise Daugherty Source London North GLH was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.4 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.4 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.4 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Childhood onset hereditary spastic paraplegia v1.4 AP4B1 Louise Daugherty Source London North GLH was added to AP4B1.
Childhood onset hereditary spastic paraplegia v1.4 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Childhood onset hereditary spastic paraplegia v1.4 ALS2 Louise Daugherty Source London North GLH was added to ALS2.
Childhood onset hereditary spastic paraplegia v1.4 ALDH18A1 Louise Daugherty Source London North GLH was added to ALDH18A1.
Childhood onset hereditary spastic paraplegia v1.4 AIMP1 Louise Daugherty Source London North GLH was added to AIMP1.
Childhood onset hereditary spastic paraplegia v1.4 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.4 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Childhood onset hereditary spastic paraplegia v1.4 ABCD1 Louise Daugherty Source London North GLH was added to ABCD1.
Childhood onset hereditary spastic paraplegia v1.3 ZFYVE27 Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27
Childhood onset hereditary spastic paraplegia v1.3 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Childhood onset hereditary spastic paraplegia v1.3 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Childhood onset hereditary spastic paraplegia v1.3 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Childhood onset hereditary spastic paraplegia v1.3 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1
Childhood onset hereditary spastic paraplegia v1.3 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia for gene: RAB3GAP2
Childhood onset hereditary spastic paraplegia v1.3 PSEN1 Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Childhood onset hereditary spastic paraplegia v1.3 PCDH12 Louise Daugherty Added phenotypes microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12
Childhood onset hereditary spastic paraplegia v1.3 MTPAP Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Childhood onset hereditary spastic paraplegia v1.3 MARS2 Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Childhood onset hereditary spastic paraplegia v1.3 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Childhood onset hereditary spastic paraplegia v1.3 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C
Publications for gene KIF1C were changed from 17273843; 24482476; 24319291 to 24482476; 17273843; 24319291
Childhood onset hereditary spastic paraplegia v1.3 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Childhood onset hereditary spastic paraplegia v1.3 GAD1 Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1
Childhood onset hereditary spastic paraplegia v1.3 ENTPD1 Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1
Childhood onset hereditary spastic paraplegia v1.3 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK
Childhood onset hereditary spastic paraplegia v1.3 CCT5 Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
Childhood onset hereditary spastic paraplegia v1.3 AP5Z1 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Childhood onset hereditary spastic paraplegia v1.3 AMPD2 Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Childhood onset hereditary spastic paraplegia v1.3 REEP2 Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Childhood onset hereditary spastic paraplegia v1.3 MAG Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Publications for gene MAG were changed from 24482476; 26179919 to 26179919; 24482476
Childhood onset hereditary spastic paraplegia v1.3 LYST Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST
Publications for gene LYST were changed from 24521565; 26307451; 25519960; 25519961 to 24521565; 26307451; 25519961; 25519960
Childhood onset hereditary spastic paraplegia v1.3 KDM5C Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Publications for gene KDM5C were changed from 26919706; 15586325; 10982473 to 10982473; 26919706; 15586325
Childhood onset hereditary spastic paraplegia v1.3 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Childhood onset hereditary spastic paraplegia v1.3 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Childhood onset hereditary spastic paraplegia v1.3 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Publications for gene GCH1 were changed from 21935284; 24509643 to 24509643; 21935284
Childhood onset hereditary spastic paraplegia v1.3 DARS Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Publications for gene DARS were changed from 25527264; 23643384 to 23643384; 25527264
Childhood onset hereditary spastic paraplegia v1.3 CDK16 Louise Daugherty Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16
Childhood onset hereditary spastic paraplegia v1.3 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Childhood onset hereditary spastic paraplegia v1.3 SLC2A1 Louise Daugherty Added phenotypes spastic paraplegia; seizure; Dystonia 9, 601042; Developmental delay; paroxysmal choreoathetosis for gene: SLC2A1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Publications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1
Publications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ERLIN1 Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1
Publications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ATP13A2 Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ARG1 Louise Daugherty Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1
Publications for gene ARG1 were changed from 26310552; 23859858; 2365823; 1463019 to 2365823; 23859858; 1463019; 26310552
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ABCD1 Louise Daugherty Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1
Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Childhood onset hereditary spastic paraplegia v1.3 WDR45B Louise Daugherty Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Childhood onset hereditary spastic paraplegia v1.3 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Childhood onset hereditary spastic paraplegia v1.3 TUBB4A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A
Childhood onset hereditary spastic paraplegia v1.3 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Childhood onset hereditary spastic paraplegia v1.3 SPG21 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Mast syndrome, 248900 for gene: SPG21
Childhood onset hereditary spastic paraplegia v1.3 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11
Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883
Childhood onset hereditary spastic paraplegia v1.3 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant for gene: SPAST
Childhood onset hereditary spastic paraplegia v1.3 SPART Louise Daugherty Added phenotypes Troyer syndrome, 275900 for gene: SPART
Childhood onset hereditary spastic paraplegia v1.3 SLC25A46 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Childhood onset hereditary spastic paraplegia v1.3 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Publications for gene SLC1A4 were changed from 25930971; 26041762; 29989513; 26138499; 27193218 to 26138499; 25930971; 26041762; 27193218; 29989513
Childhood onset hereditary spastic paraplegia v1.3 SLC16A2 Louise Daugherty Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Childhood onset hereditary spastic paraplegia v1.3 SERAC1 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome for gene: SERAC1
Publications for gene SERAC1 were changed from 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507 to 27604308; 29205472; 27186703; 28482397; 28778788; 22683713; 16527507
Childhood onset hereditary spastic paraplegia v1.3 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Childhood onset hereditary spastic paraplegia v1.3 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Childhood onset hereditary spastic paraplegia v1.3 REEP1 Louise Daugherty Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Childhood onset hereditary spastic paraplegia v1.3 POLR3A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A
Publications for gene POLR3A were changed from 21855841; 25655951 to 25655951; 21855841
Childhood onset hereditary spastic paraplegia v1.3 PNPLA6 Louise Daugherty Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Childhood onset hereditary spastic paraplegia v1.3 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Childhood onset hereditary spastic paraplegia v1.3 OPA3 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome for gene: OPA3
Publications for gene OPA3 were changed from 25201222; 11668429; 20301646; 24944951; 25657044 to 11668429; 24944951; 25201222; 25657044; 20301646
Childhood onset hereditary spastic paraplegia v1.3 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Childhood onset hereditary spastic paraplegia v1.3 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1
Publications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710
Childhood onset hereditary spastic paraplegia v1.3 L1CAM Louise Daugherty Added phenotypes Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 for gene: L1CAM
Childhood onset hereditary spastic paraplegia v1.3 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Childhood onset hereditary spastic paraplegia v1.3 KIF1A Louise Daugherty Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A
Childhood onset hereditary spastic paraplegia v1.3 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220
Childhood onset hereditary spastic paraplegia v1.3 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Childhood onset hereditary spastic paraplegia v1.3 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2
Publications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765
Childhood onset hereditary spastic paraplegia v1.3 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Childhood onset hereditary spastic paraplegia v1.3 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2
Publications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983
Childhood onset hereditary spastic paraplegia v1.3 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Childhood onset hereditary spastic paraplegia v1.3 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Childhood onset hereditary spastic paraplegia v1.3 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Childhood onset hereditary spastic paraplegia v1.3 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Childhood onset hereditary spastic paraplegia v1.3 C19orf12 Louise Daugherty Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Childhood onset hereditary spastic paraplegia v1.3 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Childhood onset hereditary spastic paraplegia v1.3 BSCL2 Louise Daugherty Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2
Publications for gene BSCL2 were changed from 14981520; 13680364 to 13680364; 14981520
Childhood onset hereditary spastic paraplegia v1.3 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v1.3 ATL1 Louise Daugherty Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1
Childhood onset hereditary spastic paraplegia v1.3 AP4S1 Louise Daugherty Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Childhood onset hereditary spastic paraplegia v1.3 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Childhood onset hereditary spastic paraplegia v1.3 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Childhood onset hereditary spastic paraplegia v1.3 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Childhood onset hereditary spastic paraplegia v1.3 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2
Childhood onset hereditary spastic paraplegia v1.3 ALDH18A1 Louise Daugherty Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586; SPG9; Spastic paraplegia 9A, autosomal dominant, 601162; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3 for gene: ALDH18A1
Childhood onset hereditary spastic paraplegia v1.3 AIMP1 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 3, 260600 for gene: AIMP1
Childhood onset hereditary spastic paraplegia v1.3 AFG3L2 Louise Daugherty Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Childhood onset hereditary spastic paraplegia v1.3 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.1 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Childhood onset hereditary spastic paraplegia v1.0 FXN_GAA Arianna Tucci commented on STR: FXN_GAA
Childhood onset hereditary spastic paraplegia v1.0 CACNA1A_CAG Arianna Tucci reviewed STR: CACNA1A_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 ATXN7_CAG Arianna Tucci reviewed STR: ATXN7_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 ATXN3_CAG Arianna Tucci reviewed STR: ATXN3_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 ATXN2_CAG Arianna Tucci reviewed STR: ATXN2_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 ATXN1_CAG Arianna Tucci reviewed STR: ATXN1_CAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 ATXN10_ATTCT Arianna Tucci commented on STR: ATXN10_ATTCT
Childhood onset hereditary spastic paraplegia v1.0 SLC2A1 Arianna Tucci commented on gene: SLC2A1
Childhood onset hereditary spastic paraplegia v1.0 HACE1 Arianna Tucci commented on gene: HACE1
Childhood onset hereditary spastic paraplegia v1.0 ERLIN1 Arianna Tucci commented on gene: ERLIN1
Childhood onset hereditary spastic paraplegia v1.0 CYP27A1 Arianna Tucci commented on gene: CYP27A1
Childhood onset hereditary spastic paraplegia v1.0 ATP13A2 Arianna Tucci commented on gene: ATP13A2
Childhood onset hereditary spastic paraplegia v1.0 ARG1 Arianna Tucci commented on gene: ARG1
Childhood onset hereditary spastic paraplegia v1.0 ABCD1 Arianna Tucci commented on gene: ABCD1
Childhood onset hereditary spastic paraplegia v1.0 ZFYVE26 Arianna Tucci reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 WDR45B Arianna Tucci commented on gene: WDR45B
Childhood onset hereditary spastic paraplegia v1.0 WASHC5 Arianna Tucci reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 TUBB4A Arianna Tucci commented on gene: TUBB4A
Childhood onset hereditary spastic paraplegia v1.0 SPG7 Arianna Tucci reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 SPG21 Arianna Tucci reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 SPG11 Arianna Tucci commented on gene: SPG11
Childhood onset hereditary spastic paraplegia v1.0 SPAST Arianna Tucci reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.0 SPART Arianna Tucci commented on gene: SPART
Childhood onset hereditary spastic paraplegia v1.0 SLC25A46 Arianna Tucci commented on gene: SLC25A46
Childhood onset hereditary spastic paraplegia v1.0 Louise Daugherty promoted panel to version 1.0
Childhood onset hereditary spastic paraplegia v0.145 SLC2A1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes from OMIM (with HSP)
Childhood onset hereditary spastic paraplegia v0.145 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay to Dystonia 9, 601042; paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay
Childhood onset hereditary spastic paraplegia v0.144 SLC2A1 Louise Daugherty Added comment: Comment on publications: added publication suggested by internal clinical review
Childhood onset hereditary spastic paraplegia v0.144 SLC2A1 Louise Daugherty Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715
Childhood onset hereditary spastic paraplegia v0.143 HACE1 Louise Daugherty Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure
Childhood onset hereditary spastic paraplegia v0.142 ZFYVE26 Louise Daugherty Publications for gene: ZFYVE26 were set to Hanein et al. (2008)
Childhood onset hereditary spastic paraplegia v0.141 ZFYVE26 Louise Daugherty Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive to Spastic paraplegia 15, autosomal recessive, 270700
Childhood onset hereditary spastic paraplegia v0.140 WDR45B Louise Daugherty Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Childhood onset hereditary spastic paraplegia v0.139 WASHC5 Louise Daugherty Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Childhood onset hereditary spastic paraplegia v0.138 WASHC5 Louise Daugherty Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563
Childhood onset hereditary spastic paraplegia v0.137 SPG7 Louise Daugherty Publications for gene: SPG7 were set to Casari et al (1998)
Childhood onset hereditary spastic paraplegia v0.136 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259
Childhood onset hereditary spastic paraplegia v0.135 SPG21 Louise Daugherty Publications for gene: SPG21 were set to Simpson et al. (2003)
Childhood onset hereditary spastic paraplegia v0.134 SPG21 Louise Daugherty Phenotypes for gene: SPG21 were changed from Spastic Paraplegia, Recessive to Spastic Paraplegia, Recessive; Mast syndrome, 248900
Childhood onset hereditary spastic paraplegia v0.133 SPG11 Louise Daugherty Publications for gene: SPG11 were set to Stevanin et al. (2007)
Childhood onset hereditary spastic paraplegia v0.132 SPG11 Louise Daugherty Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360
Childhood onset hereditary spastic paraplegia v0.131 SPART Louise Daugherty Publications for gene: SPART were set to Patel et al. (2002
Childhood onset hereditary spastic paraplegia v0.130 SPART Louise Daugherty Phenotypes for gene: SPART were changed from to Troyer syndrome, 275900
Childhood onset hereditary spastic paraplegia v0.129 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Childhood onset hereditary spastic paraplegia v0.128 SLC16A2 Louise Daugherty Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
Childhood onset hereditary spastic paraplegia v0.127 SERAC1 Louise Daugherty Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
Childhood onset hereditary spastic paraplegia v0.126 SACS Louise Daugherty Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type, 270550
Childhood onset hereditary spastic paraplegia v0.125 RTN2 Louise Daugherty Publications for gene: RTN2 were set to Montenegro et al. (2012)
Childhood onset hereditary spastic paraplegia v0.124 RTN2 Louise Daugherty Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805
Childhood onset hereditary spastic paraplegia v0.123 REEP1 Louise Daugherty Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250
Childhood onset hereditary spastic paraplegia v0.122 REEP1 Louise Daugherty Publications for gene: REEP1 were set to Zuchner et al. (2006)
Childhood onset hereditary spastic paraplegia v0.121 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia
Childhood onset hereditary spastic paraplegia v0.120 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Childhood onset hereditary spastic paraplegia v0.119 PNPLA6 Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020
Childhood onset hereditary spastic paraplegia v0.118 PLP1 Louise Daugherty Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Childhood onset hereditary spastic paraplegia v0.117 PLP1 Louise Daugherty Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920
Childhood onset hereditary spastic paraplegia v0.116 NIPA1 Louise Daugherty Phenotypes for gene: NIPA1 were changed from Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant to Spastic paraplegia 6,autosomal dominant, 600363
Childhood onset hereditary spastic paraplegia v0.115 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to Rainier et al. (2003)
Childhood onset hereditary spastic paraplegia v0.114 L1CAM Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome, 303350; Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.113 L1CAM Louise Daugherty Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.112 L1CAM Louise Daugherty Publications for gene: L1CAM were set to 7920659
Childhood onset hereditary spastic paraplegia v0.111 L1CAM Louise Daugherty Publications for gene: L1CAM were set to PMID: 7920659
Childhood onset hereditary spastic paraplegia v0.110 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, 604187
Childhood onset hereditary spastic paraplegia v0.109 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to 14981520
Childhood onset hereditary spastic paraplegia v0.108 KIF5A Louise Daugherty Publications for gene: KIF5A were set to Reid et al. (2002)
Childhood onset hereditary spastic paraplegia v0.107 KIF1A Louise Daugherty Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357
Childhood onset hereditary spastic paraplegia v0.106 KIF1A Louise Daugherty Publications for gene: KIF1A were set to Erlich et al. (2011)
Childhood onset hereditary spastic paraplegia v0.105 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; 605280 to Spastic paraplegia 13, autosomal dominant, 605280
Childhood onset hereditary spastic paraplegia v0.104 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Spastic paraplegia 13, autosomal dominant; 605280
Childhood onset hereditary spastic paraplegia v0.103 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to Hansen et al. (2002)
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Classified gene: HSPD1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Added comment: Comment on list classification: demoted from Green to Amber after internal clinical review
Childhood onset hereditary spastic paraplegia v0.102 HSPD1 Louise Daugherty Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.101 FA2H Louise Daugherty Publications for gene: FA2H were set to Edvardson et al. (2008)
Childhood onset hereditary spastic paraplegia v0.100 FA2H Louise Daugherty Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319
Childhood onset hereditary spastic paraplegia v0.99 DDHD2 Louise Daugherty Phenotypes for gene: DDHD2 were changed from Spastic paraplegia 54, autosomal recessive to Spastic paraplegia 54, autosomal recessive, 615033
Childhood onset hereditary spastic paraplegia v0.98 DDHD2 Louise Daugherty Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Childhood onset hereditary spastic paraplegia v0.97 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.96 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340
Childhood onset hereditary spastic paraplegia v0.95 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821
Childhood onset hereditary spastic paraplegia v0.94 CYP7B1 Louise Daugherty Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, 270800
Childhood onset hereditary spastic paraplegia v0.93 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Childhood onset hereditary spastic paraplegia v0.92 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.91 CYP2U1 Louise Daugherty Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive to Spastic paraplegia 56, autosomal recessive, 615030
Childhood onset hereditary spastic paraplegia v0.90 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Classified gene: CAPN1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Added comment: Comment on list classification: changed to Amber after internal clinical review
Childhood onset hereditary spastic paraplegia v0.89 CAPN1 Louise Daugherty Gene: capn1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.88 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, 614298 to Neurodegeneration with brain iron accumulation 4, 614298; Spastic paraplegia 43, autosomal recessive, 615043
Childhood onset hereditary spastic paraplegia v0.87 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to Landoure (2013)
Childhood onset hereditary spastic paraplegia v0.86 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, 614298
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 v0.84 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Childhood onset hereditary spastic paraplegia v0.83 C12orf65 Louise Daugherty Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, 615035
Childhood onset hereditary spastic paraplegia v0.82 SLC2A1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as agreed with Arianna. Although Biallelic MOI is suggested by the Reviewer Chris Buxton on the Hereditary spastic paraplegia panel, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype).
Childhood onset hereditary spastic paraplegia v0.82 SLC2A1 Rebecca Foulger Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v0.81 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Childhood onset hereditary spastic paraplegia v0.80 BSCL2 Louise Daugherty Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, to Silver spastic paraplegia syndrome, 270685
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Classified gene: SLC2A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the 'Hereditary spastic paraplegia' panel. Age of onset of Spastic paraplegia in patients from PMID:27725288 includes 'Infancy, 3 yr, 4 yr, 10 yr, not examined).
Childhood onset hereditary spastic paraplegia v0.79 SLC2A1 Rebecca Foulger Gene: slc2a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.78 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Childhood onset hereditary spastic paraplegia v0.76 ATL1 Louise Daugherty Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant to Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant
Childhood onset hereditary spastic paraplegia v0.75 ATL1 Louise Daugherty Publications for gene: ATL1 were set to PMID: 11685207
Childhood onset hereditary spastic paraplegia v0.74 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Childhood onset hereditary spastic paraplegia v0.73 AP4S1 Louise Daugherty Phenotypes for gene: AP4S1 were changed from seizures; developmental delay; Spastic paraplegia 52, autosomal recessive to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067
Childhood onset hereditary spastic paraplegia v0.72 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Childhood onset hereditary spastic paraplegia v0.71 AP4M1 Louise Daugherty Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, 612936
Childhood onset hereditary spastic paraplegia v0.70 AP4E1 Louise Daugherty Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, 613744
Childhood onset hereditary spastic paraplegia v0.69 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Childhood onset hereditary spastic paraplegia v0.68 AP4B1 Louise Daugherty Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Childhood onset hereditary spastic paraplegia v0.67 AP4B1 Louise Daugherty Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, 614066
Childhood onset hereditary spastic paraplegia v0.66 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225 to Spastic paralysis, infantile onset ascending, 607225
Childhood onset hereditary spastic paraplegia v0.65 ALDH18A1 Louise Daugherty Phenotypes for gene: ALDH18A1 were changed from ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant, 601162; Spastic paraplegia 9B, autosomal recessive, 616586
Childhood onset hereditary spastic paraplegia v0.64 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Childhood onset hereditary spastic paraplegia v0.63 AFG3L2 Louise Daugherty Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, 614487; Ataxia, spastic, 5, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.62 SLC1A4 Arianna Tucci commented on gene: SLC1A4
Childhood onset hereditary spastic paraplegia v0.62 SLC16A2 Arianna Tucci commented on gene: SLC16A2
Childhood onset hereditary spastic paraplegia v0.62 SERAC1 Arianna Tucci commented on gene: SERAC1
Childhood onset hereditary spastic paraplegia v0.62 SACS Arianna Tucci commented on gene: SACS
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2: Onset of SPG12 usually in the first decade
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2
Childhood onset hereditary spastic paraplegia v0.62 REEP1 Arianna Tucci commented on gene: REEP1
Childhood onset hereditary spastic paraplegia v0.62 POLR3A Arianna Tucci commented on gene: POLR3A
Childhood onset hereditary spastic paraplegia v0.62 PNPLA6 Arianna Tucci commented on gene: PNPLA6
Childhood onset hereditary spastic paraplegia v0.62 PLP1 Arianna Tucci commented on gene: PLP1
Childhood onset hereditary spastic paraplegia v0.62 OPA3 Arianna Tucci commented on gene: OPA3
Childhood onset hereditary spastic paraplegia v0.62 NKX6-2 Arianna Tucci commented on gene: NKX6-2
Childhood onset hereditary spastic paraplegia v0.62 NIPA1 Arianna Tucci commented on gene: NIPA1
Childhood onset hereditary spastic paraplegia v0.62 L1CAM Arianna Tucci commented on gene: L1CAM
Childhood onset hereditary spastic paraplegia v0.62 KIF5A Arianna Tucci commented on gene: KIF5A
Childhood onset hereditary spastic paraplegia v0.62 KIF1A Arianna Tucci commented on gene: KIF1A
Childhood onset hereditary spastic paraplegia v0.62 KIDINS220 Arianna Tucci commented on gene: KIDINS220
Childhood onset hereditary spastic paraplegia v0.62 HSPD1 Arianna Tucci commented on gene: HSPD1
Childhood onset hereditary spastic paraplegia v0.62 GBA2 Arianna Tucci commented on gene: GBA2
Childhood onset hereditary spastic paraplegia v0.62 FARS2 Arianna Tucci commented on gene: FARS2
Childhood onset hereditary spastic paraplegia v0.62 FA2H Arianna Tucci commented on gene: FA2H
Childhood onset hereditary spastic paraplegia v0.62 ERLIN2 Arianna Tucci commented on gene: ERLIN2
Childhood onset hereditary spastic paraplegia v0.62 DDHD2 Arianna Tucci commented on gene: DDHD2
Childhood onset hereditary spastic paraplegia v0.62 DDHD1 Arianna Tucci commented on gene: DDHD1
Childhood onset hereditary spastic paraplegia v0.62 CYP7B1 Arianna Tucci commented on gene: CYP7B1
Childhood onset hereditary spastic paraplegia v0.62 CYP2U1 Arianna Tucci commented on gene: CYP2U1
Childhood onset hereditary spastic paraplegia v0.62 CAPN1 Arianna Tucci reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v0.62 C19orf12 Arianna Tucci commented on gene: C19orf12
Childhood onset hereditary spastic paraplegia v0.62 C12orf65 Arianna Tucci commented on gene: C12orf65
Childhood onset hereditary spastic paraplegia v0.62 BSCL2 Arianna Tucci commented on gene: BSCL2
Childhood onset hereditary spastic paraplegia v0.62 B4GALNT1 Arianna Tucci commented on gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v0.62 ATL1 Arianna Tucci commented on gene: ATL1
Childhood onset hereditary spastic paraplegia v0.62 AP4S1 Arianna Tucci commented on gene: AP4S1
Childhood onset hereditary spastic paraplegia v0.62 AP4M1 Arianna Tucci commented on gene: AP4M1
Childhood onset hereditary spastic paraplegia v0.62 AP4E1 Arianna Tucci commented on gene: AP4E1
Childhood onset hereditary spastic paraplegia v0.62 AP4B1 Arianna Tucci commented on gene: AP4B1
Childhood onset hereditary spastic paraplegia v0.62 ALS2 Arianna Tucci commented on gene: ALS2
Childhood onset hereditary spastic paraplegia v0.62 ALDH18A1 Arianna Tucci commented on gene: ALDH18A1
Childhood onset hereditary spastic paraplegia v0.62 AIMP1 Arianna Tucci commented on gene: AIMP1
Childhood onset hereditary spastic paraplegia v0.62 AFG3L2 Arianna Tucci commented on gene: AFG3L2
Childhood onset hereditary spastic paraplegia v0.62 ADAR Arianna Tucci commented on gene: ADAR
Childhood onset hereditary spastic paraplegia v0.61 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.60 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.59 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.58 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.57 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Childhood onset hereditary spastic paraplegia v0.56 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
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 v0.53 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.53 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.53 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.52 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Childhood onset hereditary spastic paraplegia v0.51 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v0.50 KLC4 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 v0.50 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.49 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.47 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.45 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Childhood onset hereditary spastic paraplegia v0.44 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.42 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from leg spasticity; Brain stem and spinal cord Hypomyelination to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.40 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Childhood onset hereditary spastic paraplegia v0.39 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel.
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.37 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Childhood onset hereditary spastic paraplegia v0.36 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.34 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 23859858; 26310552
Childhood onset hereditary spastic paraplegia v0.33 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Childhood onset hereditary spastic paraplegia v0.32 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Childhood onset hereditary spastic paraplegia v0.31 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.28 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.27 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.27 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.26 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty Marked STR: HTT_CAG as ready
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.23 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.23 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.22 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.21 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.21 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.20 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.19 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.19 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.18 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.17 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.17 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.16 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.15 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.15 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.14 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.13 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.13 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.12 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.10 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.6 ZFYVE27 Sarah Leigh gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 ZFYVE26 Sarah Leigh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ZEB2 Sarah Leigh gene: ZEB2 was added
gene: ZEB2 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert Review Red
Mode of inheritance for gene: ZEB2 was set to
Childhood onset hereditary spastic paraplegia v0.6 WDR48 Sarah Leigh gene: WDR48 was added
gene: WDR48 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 WDR45B Sarah Leigh gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992; 28503735
Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Childhood onset hereditary spastic paraplegia v0.6 WASHC5 Sarah Leigh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 VPS37A Sarah Leigh gene: VPS37A was added
gene: VPS37A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 VAMP1 Sarah Leigh gene: VAMP1 was added
gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Childhood onset hereditary spastic paraplegia v0.6 USP8 Sarah Leigh gene: USP8 was added
gene: USP8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 TUBB4A Sarah Leigh gene: TUBB4A was added
gene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438
Childhood onset hereditary spastic paraplegia v0.6 TFG Sarah Leigh gene: TFG was added
gene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFG were set to Beetz et al. (2013)
Childhood onset hereditary spastic paraplegia v0.6 TECPR2 Sarah Leigh gene: TECPR2 was added
gene: TECPR2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031
Childhood onset hereditary spastic paraplegia v0.6 SPG7 Sarah Leigh gene: SPG7 was added
gene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 SPG21 Sarah Leigh gene: SPG21 was added
gene: SPG21 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to Simpson et al. (2003)
Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive
Childhood onset hereditary spastic paraplegia v0.6 SPG11 Sarah Leigh gene: SPG11 was added
gene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to Stevanin et al. (2007)
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 SPAST Sarah Leigh gene: SPAST was added
gene: SPAST was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to Hazan et al (1999)
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 SPART Sarah Leigh gene: SPART was added
gene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to Patel et al. (2002
Childhood onset hereditary spastic paraplegia v0.6 SLC33A1 Sarah Leigh gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,
Childhood onset hereditary spastic paraplegia v0.6 SLC2A1 Sarah Leigh gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715
Phenotypes for gene: SLC2A1 were set to paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay
Childhood onset hereditary spastic paraplegia v0.6 SLC25A46 Sarah Leigh gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 28369803; 26168012
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505
Childhood onset hereditary spastic paraplegia v0.6 SLC1A4 Sarah Leigh gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 25930971; 26041762; 29989513; 26138499; 27193218
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Childhood onset hereditary spastic paraplegia v0.6 SLC16A2 Sarah Leigh gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Childhood onset hereditary spastic paraplegia v0.6 SERAC1 Sarah Leigh gene: SERAC1 was added
gene: SERAC1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Childhood onset hereditary spastic paraplegia v0.6 SACS Sarah Leigh gene: SACS was added
gene: SACS was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Childhood onset hereditary spastic paraplegia v0.6 RTN2 Sarah Leigh gene: RTN2 was added
gene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 REEP2 Sarah Leigh gene: REEP2 was added
gene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REEP2 were set to 24388663
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625
Childhood onset hereditary spastic paraplegia v0.6 REEP1 Sarah Leigh gene: REEP1 was added
gene: REEP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REEP1 were set to Zuchner et al. (2006)
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant
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
Childhood onset hereditary spastic paraplegia v0.6 PSEN1 Sarah Leigh gene: PSEN1 was added
gene: PSEN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PSEN1 was set to
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia
Childhood onset hereditary spastic paraplegia v0.6 POLR3A Sarah Leigh gene: POLR3A was added
gene: POLR3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 21855841; 25655951
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Childhood onset hereditary spastic paraplegia v0.6 PNPLA6 Sarah Leigh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 PLP1 Sarah Leigh gene: PLP1 was added
gene: PLP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked
Childhood onset hereditary spastic paraplegia v0.6 PGAP1 Sarah Leigh gene: PGAP1 was added
gene: PGAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 PCDH12 Sarah Leigh gene: PCDH12 was added
gene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Childhood onset hereditary spastic paraplegia v0.6 OPA3 Sarah Leigh gene: OPA3 was added
gene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Childhood onset hereditary spastic paraplegia v0.6 NT5C2 Sarah Leigh gene: NT5C2 was added
gene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162
Childhood onset hereditary spastic paraplegia v0.6 NKX6-2 Sarah Leigh gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Childhood onset hereditary spastic paraplegia v0.6 NIPA1 Sarah Leigh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to Rainier et al. (2003)
Phenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 MTPAP Sarah Leigh gene: MTPAP was added
gene: MTPAP was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Spastic ataxia 4, autosomal recessive; Ataxia, spastic, 4
Childhood onset hereditary spastic paraplegia v0.6 MARS2 Sarah Leigh gene: MARS2 was added
gene: MARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: MARS2 was set to
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 MARS Sarah Leigh gene: MARS was added
gene: MARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 MAG Sarah Leigh gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Childhood onset hereditary spastic paraplegia v0.6 LYST Sarah Leigh gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 24521565
Phenotypes for gene: LYST were set to spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 L1CAM Sarah Leigh gene: L1CAM was added
gene: L1CAM was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to PMID: 7920659
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 KLC4 Sarah Leigh gene: KLC4 was added
gene: KLC4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 KIF5A Sarah Leigh gene: KIF5A was added
gene: KIF5A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to Reid et al. (2002)
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 KIF1C Sarah Leigh gene: KIF1C was added
gene: KIF1C was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 17273843; 24482476; 24319291
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 KIF1A Sarah Leigh gene: KIF1A was added
gene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to Erlich et al. (2011)
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 KIDINS220 Sarah Leigh gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
Childhood onset hereditary spastic paraplegia v0.6 KDM5C Sarah Leigh gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 26919706; 15586325; 10982473
Phenotypes for gene: KDM5C were set to Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay
Childhood onset hereditary spastic paraplegia v0.6 IBA57 Sarah Leigh gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 30258207; 25609768
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Childhood onset hereditary spastic paraplegia v0.6 HSPD1 Sarah Leigh gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 HACE1 Sarah Leigh gene: HACE1 was added
gene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26437029; 26424145
Phenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure
Childhood onset hereditary spastic paraplegia v0.6 GJC2 Sarah Leigh gene: GJC2 was added
gene: GJC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 GCH1 Sarah Leigh gene: GCH1 was added
gene: GCH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCH1 were set to 21935284; 24509643
Phenotypes for gene: GCH1 were set to progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia
Childhood onset hereditary spastic paraplegia v0.6 GBA2 Sarah Leigh gene: GBA2 was added
gene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to Martin et al. (2013)
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 GAD1 Sarah Leigh gene: GAD1 was added
gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: GAD1 was set to
Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513
Childhood onset hereditary spastic paraplegia v0.6 FARS2 Sarah Leigh gene: FARS2 was added
gene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Childhood onset hereditary spastic paraplegia v0.6 FA2H Sarah Leigh gene: FA2H was added
gene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ERLIN2 Sarah Leigh gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 ERLIN1 Sarah Leigh gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 ENTPD1 Sarah Leigh gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683
Childhood onset hereditary spastic paraplegia v0.6 DSTYK Sarah Leigh gene: DSTYK was added
gene: DSTYK was added to Hereditary spastic paraplegia - childhood onset. Sources: Other
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSTYK were set to 28157540
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750
Childhood onset hereditary spastic paraplegia v0.6 DDHD2 Sarah Leigh gene: DDHD2 was added
gene: DDHD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 DDHD1 Sarah Leigh gene: DDHD1 was added
gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 DARS Sarah Leigh gene: DARS was added
gene: DARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 25527264; 23643384
Phenotypes for gene: DARS were set to leg spasticity; Brain stem and spinal cord Hypomyelination
Childhood onset hereditary spastic paraplegia v0.6 CYP7B1 Sarah Leigh gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 CYP2U1 Sarah Leigh gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 CYP27A1 Sarah Leigh gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 25862734
Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness
Childhood onset hereditary spastic paraplegia v0.6 CDK16 Sarah Leigh gene: CDK16 was added
gene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381; 26350204
Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 CCT5 Sarah Leigh gene: CCT5 was added
gene: CCT5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Childhood onset hereditary spastic paraplegia v0.6 CAPN1 Sarah Leigh gene: CAPN1 was added
gene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907
Childhood onset hereditary spastic paraplegia v0.6 C19orf12 Sarah Leigh gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)
Childhood onset hereditary spastic paraplegia v0.6 C12orf65 Sarah Leigh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035
Childhood onset hereditary spastic paraplegia v0.6 BSCL2 Sarah Leigh gene: BSCL2 was added
gene: BSCL2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,
Childhood onset hereditary spastic paraplegia v0.6 B4GALNT1 Sarah Leigh gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ATP13A2 Sarah Leigh gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957
Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis
Childhood onset hereditary spastic paraplegia v0.6 ATL1 Sarah Leigh gene: ATL1 was added
gene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to PMID: 11685207
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant
Childhood onset hereditary spastic paraplegia v0.6 ARSI Sarah Leigh gene: ARSI was added
gene: ARSI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 ARL6IP1 Sarah Leigh gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 ARG1 Sarah Leigh gene: ARG1 was added
gene: ARG1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 23859858; 26310552
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Childhood onset hereditary spastic paraplegia v0.6 AP5Z1 Sarah Leigh gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4S1 Sarah Leigh gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4M1 Sarah Leigh gene: AP4M1 was added
gene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4E1 Sarah Leigh gene: AP4E1 was added
gene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4B1 Sarah Leigh gene: AP4B1 was added
gene: AP4B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AMPD2 Sarah Leigh gene: AMPD2 was added
gene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014)
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?
Childhood onset hereditary spastic paraplegia v0.6 ALS2 Sarah Leigh gene: ALS2 was added
gene: ALS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 12145748
Phenotypes for gene: ALS2 were set to 607225
Childhood onset hereditary spastic paraplegia v0.6 ALDH18A1 Sarah Leigh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 AIMP1 Sarah Leigh gene: AIMP1 was added
gene: AIMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to 260600
Childhood onset hereditary spastic paraplegia v0.6 AFG3L2 Sarah Leigh gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ADAR Sarah Leigh gene: ADAR was added
gene: ADAR was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 25243380
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010
Childhood onset hereditary spastic paraplegia v0.6 ABCD1 Sarah Leigh gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.5 Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia; GMS R61 to Childhood onset hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.2 Ellen McDonagh List of related panels changed from to Childhood onset hereditary spastic paraplegia; GMS R61
Childhood onset hereditary spastic paraplegia v0.1 Ellen McDonagh Panel status changed from internal to public
Childhood onset hereditary spastic paraplegia v0.0 Ellen McDonagh Added Panel Hereditary spastic paraplegia - childhood onset
Set panel types to: GMS Rare Disease Virtual