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Hereditary Spastic Paraplegia - adult onset v1.11 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - adult onset v1.10 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607
Hereditary Spastic Paraplegia - adult onset v1.9 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Mode of pathogenicity for gene: TUBA4A was set to Other
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v1.8 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Hereditary Spastic Paraplegia - adult onset v1.7 ERLIN2 Zornitza Stark edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Hereditary Spastic Paraplegia - adult onset v1.5 GFAP Bryony Thompson gene: GFAP was added
gene: GFAP was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GFAP were set to 11138011; 18684770
Phenotypes for gene: GFAP were set to Alexander disease MONDO:0008752
Mode of pathogenicity for gene: GFAP was set to Other
Review for gene: GFAP was set to GREEN
gene: GFAP was marked as current diagnostic
Added comment: Spastic paraparesis/spasticity has been reported as a prevalent feature of the adult form of the disease.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v1.4 COQ7 Elena Savva gene: COQ7 was added
gene: COQ7 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 33215859
Phenotypes for gene: COQ7 were set to Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Review for gene: COQ7 was set to RED
Added comment: PMID: 33215859: review of current and previous cohort finds three homozygous families with missense variants (p.(Leu111Pro) recurring, likely Iranian founder), with mod-severe progressive spastic paraplegia, moderate spastic paraparesis or moderate progressive spastic paraparesis .
- No supportive functional studies to validate missense variants.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v1.3 Zornitza Stark HPO terms changed from to Spasticity, HP:0001257
List of related panels changed from to Spasticity; HP:0001257
Hereditary Spastic Paraplegia - adult onset v1.1 NOTCH1 Chern Lim gene: NOTCH1 was added
gene: NOTCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 35947102
Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Mode of pathogenicity for gene: NOTCH1 was set to Other
Review for gene: NOTCH1 was set to GREEN
gene: NOTCH1 was marked as current diagnostic
Added comment: PMID: 35947102:
- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1.
- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.
- Missense and small inframe insertion variants in the negative regulatory region.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v1.0 TSPOAP1 Ain Roesley gene: TSPOAP1 was added
gene: TSPOAP1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPOAP1 were set to 33539324
Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
Penetrance for gene: TSPOAP1 were set to unknown
Review for gene: TSPOAP1 was set to AMBER
Added comment: 7 affecteds from 3 families (1 consanguineous)
2x null, 1x missense

Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted)

mice KO models were investigated
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v0.125 ZFYVE27 Zornitza Stark Phenotypes for gene: ZFYVE27 were changed from Spastic paraplegia 33, autosomal dominant to Spastic paraplegia 33, autosomal dominant, MIM#610244
Hereditary Spastic Paraplegia - adult onset v0.119 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive, 270700 to Spastic paraplegia 15, autosomal recessive, 270700; MONDO:0010044
Hereditary Spastic Paraplegia - adult onset v0.117 ZFYVE26 Zornitza Stark changed review comment from: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Late childhood onset reported.
Sources: Expert list; to: Complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable intellectual disability, hearing and visual defects, and thin corpus callosum. Onset in second decade reported.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.117 ZFYVE26 Zornitza Stark edited their review of gene: ZFYVE26: Changed publications: 31385551; Changed phenotypes: Spastic paraplegia 15, autosomal recessive, MIM# 270700
Hereditary Spastic Paraplegia - adult onset v0.117 WASHC5 Zornitza Stark Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, 603563; MONDO:0011339
Hereditary Spastic Paraplegia - adult onset v0.114 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455931, 17160902, 31814071, 26572744; Phenotypes: Spastic paraplegia 8, autosomal dominant, MIM# 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.114 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from Hereditary spastic paraplegia to Spastic paraplegia 80, autosomal dominant 618418
Hereditary Spastic Paraplegia - adult onset v0.110 UBAP1 Zornitza Stark edited their review of gene: UBAP1: Changed publications: 31696996, 32934340; Changed phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418
Hereditary Spastic Paraplegia - adult onset v0.107 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, 607259; MONDO:0011803
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark changed review comment from: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.
Sources: Expert list; to: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.

Note allelic disorders: ALS and neuropathy.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.105 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Hereditary Spastic Paraplegia - adult onset v0.103 SPG11 Zornitza Stark changed review comment from: ID, thin corpus callosum, neuropathy reported in some individuals.
Sources: Expert list; to: ID, thin corpus callosum, neuropathy reported in some individuals. Spasticity onset in first, second, third decades.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.103 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 to Spastic ataxia, Charlevoix-Saguenay type, 270550; MONDO:0010041
Hereditary Spastic Paraplegia - adult onset v0.102 RTN2 Zornitza Stark Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Hereditary Spastic Paraplegia - adult onset v0.99 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant, 610250 to Spastic paraplegia 31, autosomal dominant, 610250; MONDO:0012453
Hereditary Spastic Paraplegia - adult onset v0.96 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques to Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822
Hereditary Spastic Paraplegia - adult onset v0.93 PSEN1 Zornitza Stark reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33274538; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.92 PNPLA6 Zornitza Stark changed review comment from: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood, although at least one family with onset of spasticity in childhood reported.
Sources: Expert list; to: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.92 PNPLA6 Zornitza Stark edited their review of gene: PNPLA6: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia 39, autosomal recessive, MIM# 612020
Hereditary Spastic Paraplegia - adult onset v0.91 PCYT2 Zornitza Stark Phenotypes for gene: PCYT2 were changed from global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy to Spastic paraplegia 82, autosomal recessive, MIM# 618770; global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark edited their review of gene: NIPA1: Changed publications: 14508710, 15711826, 32500351, 25133278; Changed phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363
Hereditary Spastic Paraplegia - adult onset v0.87 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6, autosomal dominant, MIM# 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878
Hereditary Spastic Paraplegia - adult onset v0.86 NIPA1 Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363
Hereditary Spastic Paraplegia - adult onset v0.84 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 to Spastic paraplegia 10, autosomal dominant, MIM# 604187
Hereditary Spastic Paraplegia - adult onset v0.82 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from Mental retardation, autosomal dominant 9, 614255, AD; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR to Spastic paraplegia 30, autosomal recessive, 610357
Hereditary Spastic Paraplegia - adult onset v0.80 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 to Spastic paraplegia 46, autosomal recessive, 614409; MONDO:0013737
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark edited their review of gene: GBA2: Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark edited their review of gene: GBA2: Changed publications: 23332916, 23332917, 29524657; Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409
Hereditary Spastic Paraplegia - adult onset v0.79 GBA2 Zornitza Stark changed review comment from: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
Sources: Expert list; to: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.

Adult onset reported, PMID 29524657.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.75 FA2H Zornitza Stark Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 611026 to Spastic paraplegia 35, autosomal recessive, 611026; MONDO:0012866
Hereditary Spastic Paraplegia - adult onset v0.73 FA2H Zornitza Stark changed review comment from: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).
Sources: Expert list; to: Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some indviduals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA).

Rare reports of adult onset, PMID 30446360
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.73 FA2H Zornitza Stark edited their review of gene: FA2H: Changed publications: 20104589, 23745665, 19068277, 20853438, 22146942, 30446360; Changed phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319
Hereditary Spastic Paraplegia - adult onset v0.73 ERLIN2 Zornitza Stark Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225 to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; MONDO:0012639
Hereditary Spastic Paraplegia - adult onset v0.69 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23486545; 24482476; 23176823; 31302745
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Review for gene: DDHD2 was set to GREEN
Added comment: SPG54 is typically characterized by early-onset (i.e., congenital or, more frequently, infantile) delay in motor and cognitive milestones, coupled or followed by appearance of spasticity. Cognitive impairment is absent in adult-onset cases.

More than 10 unrelated families reported.
Sources: Literature
Hereditary Spastic Paraplegia - adult onset v0.67 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 609340 to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Hereditary Spastic Paraplegia - adult onset v0.64 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, 270800; MONDO:0010047
Hereditary Spastic Paraplegia - adult onset v0.62 CYP7B1 Zornitza Stark changed review comment from: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals.
Sources: Expert list; to: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, 8-40 years.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.62 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; MONDO:0008948; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary Spastic Paraplegia - adult onset v0.61 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant, MIM#616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282; MONDO:0014568
Hereditary Spastic Paraplegia - adult onset v0.60 CPT1C Zornitza Stark changed review comment from: Two more individuals identified as part of a cohort study.; to: Two more individuals identified as part of a cohort study.

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Hereditary Spastic Paraplegia - adult onset v0.59 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76 autosomal recessive, 616907 to Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827
Hereditary Spastic Paraplegia - adult onset v0.57 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043 to Silver spastic paraplegia syndrome, 270685; HSP 17, MONDO:0010043
Hereditary Spastic Paraplegia - adult onset v0.56 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043
Hereditary Spastic Paraplegia - adult onset v0.55 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Silver spastic paraplegia syndrome MIM#270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.54 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 to Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR
Hereditary Spastic Paraplegia - adult onset v0.50 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, MIM# 613647 to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342
Hereditary Spastic Paraplegia - adult onset v0.49 AP5Z1 Zornitza Stark Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, MIM# 613647
Hereditary Spastic Paraplegia - adult onset v0.47 AP5Z1 Zornitza Stark edited their review of gene: AP5Z1: Changed rating: GREEN; Changed phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647
Hereditary Spastic Paraplegia - adult onset v0.47 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; 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; Spastic paraplegia 9A, autosomal dominant 601162 to Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Marked gene: SPAST as ready
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Gene: spast has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.41 SPAST Zornitza Stark Publications for gene: SPAST were set to
Hereditary Spastic Paraplegia - adult onset v0.40 SPAST Zornitza Stark reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 30476002, 30006150; Phenotypes: Spastic paraplegia 4, autosomal dominant (MIM#182601); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.38 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.38 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, MIM# 605280
Hereditary Spastic Paraplegia - adult onset v0.35 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26900593, 11898127, 17420924; Phenotypes: Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.35 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR to Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR
Hereditary Spastic Paraplegia - adult onset v0.32 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19056803, 23684670; Phenotypes: Spastic paraplegia 44, autosomal recessive, MIM# 613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.31 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 21935284; 24509643
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Review for gene: GCH1 was set to GREEN
Added comment: Misdiagnosis as spasticity/CP documented. Treatable disorder. Include on panel due to phenotypic overlap.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.29 CPT1C Zornitza Stark Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282
Hereditary Spastic Paraplegia - adult onset v0.27 CPT1C Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.26 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 20039086; 21981780; 23269600; 31087512
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Review for gene: C19orf12 was set to GREEN
Added comment: Single family reported with SPG phenotype. However, spasticity is also a feature of the NBIA phenotype, which can be of variable age of onset, including in young adults.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.25 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia to Spastic ataxia
Hereditary Spastic Paraplegia - adult onset v0.23 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490; Phenotypes: Spastic ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.21 STUB1 Elena Savva gene: STUB1 was added
gene: STUB1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: STUB1 were set to PMID: 32342324; 32337344
Phenotypes for gene: STUB1 were set to ?Spinocerebellar ataxia 48 618093; Spinocerebellar ataxia, autosomal recessive 16 615768
Review for gene: STUB1 was set to AMBER
Added comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic–clonic seizures (4/31), peripheral nervous system involvement (4/12).

PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.20 SLC25A15 Bryony Thompson gene: SLC25A15 was added
gene: SLC25A15 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 16376511; 22465082; 28592010
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
Review for gene: SLC25A15 was set to GREEN
Added comment: At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.18 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 23034915
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form MIM#263570
Review for gene: GBE1 was set to GREEN
Added comment: Spastic paraplegia is a reported as a prominent feature of the condition in 45/50 cases diagnosed with adult polyglucosan body disease.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.16 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984
Phenotypes for gene: GALC were set to Krabbe disease MIM#245200
Review for gene: GALC was set to GREEN
Added comment: Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.13 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 31023660
Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Review for gene: GJA1 was set to GREEN
Added comment: 8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.11 ZFYVE27 Bryony Thompson reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 29980238, 18606302; Phenotypes: Spastic paraplegia 33, autosomal dominant MIM#610244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.11 KCNA2 Bryony Thompson reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.7 DNM2 Bryony Thompson reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26517984; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.7 DARS Bryony Thompson reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity MIM#615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.7 CPT1C Bryony Thompson reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25751282, 23973755; Phenotypes: Spastic paraplegia 73, autosomal dominant 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.6 ATP2B4 Bryony Thompson reviewed gene: ATP2B4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25119969, 25798335, 29691679; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - adult onset v0.6 ATP13A2 Bryony Thompson reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27217339, 28137957; Phenotypes: Spastic paraplegia 78, autosomal recessive MIM#617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - adult onset v0.6 Bryony Thompson Panel name changed from Hereditary Spastic Paraplegia - adult onset_RMH to Hereditary Spastic Paraplegia - adult onset
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hereditary Spastic Paraplegia - adult onset v0.3 PCYT2 Bryony Thompson gene: PCYT2 was added
gene: PCYT2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list
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 global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age (included in adult onset panel, because of adolescent onset). Zebrafish model similar to previous HSP zebrafish models.
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.1 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICD2 were set to 23664120; 25497877; 24482476
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
Review for gene: BICD2 was set to AMBER
Added comment: One family reported with a heterozygous missense in an adult-onset ADHSP family (PMID: 23664120, 25497877), and one homozygous missense in an early-onset HSP family (PMID: 24482476).
Sources: Expert list
Hereditary Spastic Paraplegia - adult onset v0.0 ZFYVE27 Bryony Thompson gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to 29980238; 18606302; 16826525
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Hereditary Spastic Paraplegia - adult onset v0.0 SLC33A1 Bryony Thompson gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to 27935820; 19061983
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
Hereditary Spastic Paraplegia - adult onset v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 26307451; 24521565
Phenotypes for gene: LYST were set to spastic paraplegia; Spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary Spastic Paraplegia - adult onset v0.0 FBXO7 Bryony Thompson gene: FBXO7 was added
gene: FBXO7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15
Hereditary Spastic Paraplegia - adult onset v0.0 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 26517984
Phenotypes for gene: DNM2 were set to Complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2B4 were set to 29691679; 25798335; 25119969
Phenotypes for gene: ATP2B4 were set to Pure and complicated hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 22824007; 30381913
Phenotypes for gene: AAAS were set to Glucocorticoid deficiency with achalasia
Hereditary Spastic Paraplegia - adult onset v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700
Hereditary Spastic Paraplegia - adult onset v0.0 WASHC5 Bryony Thompson gene: WASHC5 was added
gene: WASHC5 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant, 603563
Hereditary Spastic Paraplegia - adult onset v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Hereditary Spastic Paraplegia - adult onset v0.0 UBAP1 Bryony Thompson gene: UBAP1 was added
gene: UBAP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Hereditary Spastic Paraplegia - adult onset v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to ataxia; Leukodystrophy, hypomyelinating, 612438 AD; Dystonia 4, torsion, autosomal dominant, 128101
Hereditary Spastic Paraplegia - adult onset v0.0 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259
Hereditary Spastic Paraplegia - adult onset v0.0 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG21 were set to Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive
Hereditary Spastic Paraplegia - adult onset v0.0 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile, 602099, AR; Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR
Hereditary Spastic Paraplegia - adult onset v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, 182601
Hereditary Spastic Paraplegia - adult onset v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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, 270550
Hereditary Spastic Paraplegia - adult onset v0.0 RTN2 Bryony Thompson gene: RTN2 was added
gene: RTN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, 604805
Hereditary Spastic Paraplegia - adult onset v0.0 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, 610250
Hereditary Spastic Paraplegia - adult onset v0.0 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Hereditary Spastic Paraplegia - adult onset v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia
Hereditary Spastic Paraplegia - adult onset v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive, 612020
Hereditary Spastic Paraplegia - adult onset v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked recessive, 312920
Hereditary Spastic Paraplegia - adult onset v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; 3-methylglutaconic aciduria, type III, 258501
Hereditary Spastic Paraplegia - adult onset v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPA1 were set to Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363
Hereditary Spastic Paraplegia - adult onset v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Hereditary Spastic Paraplegia - adult onset v0.0 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Mental retardation, autosomal dominant 9, 614255, AD; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR
Hereditary Spastic Paraplegia - adult onset v0.0 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Hereditary spastic paraplegia and ataxia
Hereditary Spastic Paraplegia - adult onset v0.0 IBA57 Bryony Thompson gene: IBA57 was added
gene: IBA57 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Hereditary Spastic Paraplegia - adult onset v0.0 HSPD1 Bryony Thompson gene: HSPD1 was added
gene: HSPD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280
Hereditary Spastic Paraplegia - adult onset v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR
Hereditary Spastic Paraplegia - adult onset v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary Spastic Paraplegia - adult onset v0.0 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Hereditary Spastic Paraplegia - adult onset v0.0 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 611026
Hereditary Spastic Paraplegia - adult onset v0.0 ERLIN2 Bryony Thompson gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225
Hereditary Spastic Paraplegia - adult onset v0.0 DDHD2 Bryony Thompson gene: DDHD2 was added
gene: DDHD2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033
Hereditary Spastic Paraplegia - adult onset v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive, 609340
Hereditary Spastic Paraplegia - adult onset v0.0 DARS Bryony Thompson gene: DARS was added
gene: DARS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Hereditary Spastic Paraplegia - adult onset v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, 270800
Hereditary Spastic Paraplegia - adult onset v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Hereditary Spastic Paraplegia - adult onset v0.0 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CPT1C were set to 25751282; 30911584
Phenotypes for gene: CPT1C were set to ?Spastic paraplegia 73, autosomal dominant, 616282
Hereditary Spastic Paraplegia - adult onset v0.0 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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
Hereditary Spastic Paraplegia - adult onset v0.0 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, 270685
Hereditary Spastic Paraplegia - adult onset v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195
Hereditary Spastic Paraplegia - adult onset v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 AR; complicated hereditary spastic paraplegia; Adult-onset lower-limb predominant spastic paraparesis
Hereditary Spastic Paraplegia - adult onset v0.0 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708
Hereditary Spastic Paraplegia - adult onset v0.0 AP5Z1 Bryony Thompson gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive
Hereditary Spastic Paraplegia - adult onset v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal dominant 3 616603; SPG9; Spastic paraplegia 9B, autosomal recessive 616586; 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; Spastic paraplegia 9A, autosomal dominant 601162
Hereditary Spastic Paraplegia - adult onset v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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 spastic paraparesis; Hereditary spastic paraplegia; Adrenoleukodystrophy, 300100; VLCFA accumulation; adrenal failure
Hereditary Spastic Paraplegia - adult onset v0.0 Bryony Thompson Added panel Hereditary Spastic Paraplegia - adult onset_RMH