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Severe Paediatric Disorders v1.161 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491 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
Severe Paediatric Disorders v1.151 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
Severe Paediatric Disorders v1.148 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
Severe Paediatric Disorders v1.43 TRAPPC12 Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Severe Paediatric Disorders v1.37 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
Severe Paediatric Disorders v1.12 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Severe Paediatric Disorders v1.10 PTPN23 Eleanor Williams Phenotypes for gene: PTPN23 were changed from Developmental epileptic encephalopathy with hypomyelination and brain atrophy to Developmental epileptic encephalopathy with hypomyelination and brain atrophy; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Severe Paediatric Disorders v0.12 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DARS Louise Daugherty edited their review of gene: DARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 SPAST Louise Daugherty Publications for gene SPAST were updated from to 30847515
Severe Paediatric Disorders v0.10 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.10 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.10 GAD1 Louise Daugherty Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.10 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.10 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.10 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.10 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.10 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.10 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.10 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.10 UBAP1 Louise Daugherty Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.10 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.10 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.10 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.10 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.10 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.10 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.10 SLC33A1 Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
Severe Paediatric Disorders v0.10 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.10 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.10 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.10 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.10 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.10 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.10 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Severe Paediatric Disorders v0.10 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.10 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.10 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.10 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.10 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.10 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.10 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.10 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.10 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.10 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.10 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 for gene: HSPD1
Severe Paediatric Disorders v0.10 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.10 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.10 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.10 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.10 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.10 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.10 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.10 ERLIN1 Louise Daugherty Added phenotypes Spastic paraplegia 62, 615681 for gene: ERLIN1
Severe Paediatric Disorders v0.10 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.10 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.10 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.10 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.10 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.10 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.10 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.10 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.10 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
Severe Paediatric Disorders v0.10 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
Severe Paediatric Disorders v0.10 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.10 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.10 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.10 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.10 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.10 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.10 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.10 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.10 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.10 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.10 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.10 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.10 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.10 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.10 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.10 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.10 ADD3 Louise Daugherty Added phenotypes Cerebral palsy, spastic quadriplegic, 3, 617008 for gene: ADD3
Severe Paediatric Disorders v0.9 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.9 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.9 GAD1 Louise Daugherty Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.9 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.9 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.9 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.9 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.9 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.9 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UBAP1 Louise Daugherty Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.9 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.9 SLC33A1 Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
Severe Paediatric Disorders v0.9 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.9 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.9 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.9 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Severe Paediatric Disorders v0.9 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.9 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.9 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.9 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.9 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.9 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 for gene: HSPD1
Severe Paediatric Disorders v0.9 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.9 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.9 ERLIN1 Louise Daugherty Added phenotypes Spastic paraplegia 62, 615681 for gene: ERLIN1
Severe Paediatric Disorders v0.9 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.9 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.9 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.9 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.9 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.9 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.9 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.9 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
Severe Paediatric Disorders v0.9 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
Severe Paediatric Disorders v0.9 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.9 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.9 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.9 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.9 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.9 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.9 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.9 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.9 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.9 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.9 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.9 ADD3 Louise Daugherty Added phenotypes Cerebral palsy, spastic quadriplegic, 3, 617008 for gene: ADD3
Severe Paediatric Disorders v0.9 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.9 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.9 GAD1 Louise Daugherty Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.9 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.9 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.9 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.9 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.9 VAMP1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.9 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UBAP1 Louise Daugherty Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.9 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.9 TFG Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.9 SLC33A1 Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
Severe Paediatric Disorders v0.9 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.9 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.9 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.9 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Severe Paediatric Disorders v0.9 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.9 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.9 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.9 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.9 KIF1A Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Severe Paediatric Disorders v0.9 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 for gene: HSPD1
Severe Paediatric Disorders v0.9 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.9 GLRX5 Louise Daugherty Added phenotypes Spasticity, childhood-onset, with hyperglycinemia, 616859; Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 for gene: GLRX5
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.9 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.9 ERLIN1 Louise Daugherty Added phenotypes Spastic paraplegia 62, 615681 for gene: ERLIN1
Severe Paediatric Disorders v0.9 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.9 ELOVL4 Louise Daugherty Added phenotypes Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190 for gene: ELOVL4
Severe Paediatric Disorders v0.9 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.9 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.9 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.9 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.9 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.9 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.9 CTNNB1 Louise Daugherty Added phenotypes Exudative vitreoretinopathy 7, 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 for gene: CTNNB1
Severe Paediatric Disorders v0.9 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
Severe Paediatric Disorders v0.9 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 BSCL2 Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2
Severe Paediatric Disorders v0.9 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.9 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.9 ATL1 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type ID, 613708; Spastic paraplegia 3A, autosomal dominant, 182600 for gene: ATL1
Severe Paediatric Disorders v0.9 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.9 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.9 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.9 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744; Stuttering, familial persistent, 1, 184450 for gene: AP4E1
Severe Paediatric Disorders v0.9 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.9 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9A, autosomal dominant, 601162; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9B, autosomal recessive, 616586 for gene: ALDH18A1
Severe Paediatric Disorders v0.9 AFG3L2 Louise Daugherty Added phenotypes Spinocerebellar ataxia 28, 610246; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Severe Paediatric Disorders v0.9 ADD3 Louise Daugherty Added phenotypes Cerebral palsy, spastic quadriplegic, 3, 617008 for gene: ADD3
Severe Paediatric Disorders v0.8 RHOH Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 for gene: RHOH
Severe Paediatric Disorders v0.8 MTPAP Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.8 GAD1 Louise Daugherty Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.8 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.8 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.8 WDR45B Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.8 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.8 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600; Myasthenic syndrome, congenital, 25, 618323 for gene: VAMP1
Severe Paediatric Disorders v0.8 UFC1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.8 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.8 UBAP1 Louise Daugherty Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.8 TRAPPC12 Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.8 TFG Louise Daugherty Added phenotypes ?Spastic paraplegia 57, autosomal recessive, 615658; Hereditary motor and sensory neuropathy, Okinawa type, 604484 for gene: TFG
Severe Paediatric Disorders v0.8 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.8 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.8 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Amyotrophic lateral sclerosis 5, juvenile, 602099; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11
Severe Paediatric Disorders v0.8 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.8 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, 612539; Congenital cataracts, hearing loss, and neurodegeneration, 614482 for gene: SLC33A1
Severe Paediatric Disorders v0.8 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.8 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.8 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.8 REEP1 Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Severe Paediatric Disorders v0.8 PSEN1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; ?Acne inversa, familial, 3, 613737; Pick disease, 172700; Alzheimer disease, type 3, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.8 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Oliver-McFarlane syndrome, 275400; Boucher-Neuhauser syndrome, 215470 for gene: PNPLA6
Severe Paediatric Disorders v0.8 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Severe Paediatric Disorders v0.8 PLAA Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
Severe Paediatric Disorders v0.8 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Severe Paediatric Disorders v0.8 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Severe Paediatric Disorders v0.8 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
Severe Paediatric Disorders v0.8 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.8 KIF5A Louise Daugherty Added phenotypes Myoclonus, intractable, neonatal, 617235; Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Severe Paediatric Disorders v0.8 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Severe Paediatric Disorders v0.8 KIF1A Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, type IIC, 614213; Mental retardation, autosomal dominant 9, 614255; Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A
Severe Paediatric Disorders v0.8 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 for gene: KIDINS220
Severe Paediatric Disorders v0.8 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451; Multiple mitochondrial dysfunctions syndrome 3, 615330 for gene: IBA57
Severe Paediatric Disorders v0.8 HSPD1 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Severe Paediatric Disorders v0.8 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.8 GLRX5 Louise Daugherty Added phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory, 616860; Spasticity, childhood-onset, with hyperglycinemia, 616859 for gene: GLRX5
Severe Paediatric Disorders v0.8 GJC2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 2, 608804; Lymphatic malformation 3, 613480; Spastic paraplegia 44, autosomal recessive, 613206 for gene: GJC2
Severe Paediatric Disorders v0.8 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.8 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.8 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Severe Paediatric Disorders v0.8 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia 18, autosomal recessive, 611225 for gene: ERLIN2
Severe Paediatric Disorders v0.8 ERLIN1 Louise Daugherty Added phenotypes Spastic paraplegia 62, 615681 for gene: ERLIN1
Severe Paediatric Disorders v0.8 ENTPD1 Louise Daugherty Added phenotypes Spastic paraplegia 64, autosomal recessive, 615683 for gene: ENTPD1
Severe Paediatric Disorders v0.8 ELOVL4 Louise Daugherty Added phenotypes Ichthyosis, spastic quadriplegia, and mental retardation, 614457; Spinocerebellar ataxia 34, 133190; Stargardt disease 3, 600110 for gene: ELOVL4
Severe Paediatric Disorders v0.8 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.8 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Severe Paediatric Disorders v0.8 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Severe Paediatric Disorders v0.8 DARS Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Severe Paediatric Disorders v0.8 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800; Bile acid synthesis defect, congenital, 3, 613812 for gene: CYP7B1
Severe Paediatric Disorders v0.8 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Severe Paediatric Disorders v0.8 CTNNB1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, 615075; Exudative vitreoretinopathy 7, 617572 for gene: CTNNB1
Severe Paediatric Disorders v0.8 CCT5 Louise Daugherty Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 for gene: CCT5
Severe Paediatric Disorders v0.8 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76, autosomal recessive, 616907 for gene: CAPN1
Severe Paediatric Disorders v0.8 C19orf12 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043 for gene: C19orf12
Severe Paediatric Disorders v0.8 C12orf65 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Severe Paediatric Disorders v0.8 BSCL2 Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type VA, 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2
Severe Paediatric Disorders v0.8 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Severe Paediatric Disorders v0.8 ATP13A2 Louise Daugherty Added phenotypes Spastic paraplegia 78, autosomal recessive, 617225; Kufor-Rakeb syndrome, 606693 for gene: ATP13A2
Severe Paediatric Disorders v0.8 ATL1 Louise Daugherty Added phenotypes Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Severe Paediatric Disorders v0.8 AP5Z1 Louise Daugherty Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Severe Paediatric Disorders v0.8 AP4S1 Louise Daugherty Added phenotypes Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Severe Paediatric Disorders v0.8 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Severe Paediatric Disorders v0.8 AP4E1 Louise Daugherty Added phenotypes Stuttering, familial persistent, 1, 184450; Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Severe Paediatric Disorders v0.8 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Severe Paediatric Disorders v0.8 AMPD2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686 for gene: AMPD2
Severe Paediatric Disorders v0.8 ALS2 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2
Severe Paediatric Disorders v0.8 ALDH18A1 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150; Spastic paraplegia 9B, autosomal recessive, 616586; Cutis laxa, autosomal dominant 3, 616603; Spastic paraplegia 9A, autosomal dominant, 601162 for gene: ALDH18A1
Severe Paediatric Disorders v0.8 AFG3L2 Louise Daugherty Added phenotypes Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 for gene: AFG3L2
Severe Paediatric Disorders v0.8 ADD3 Louise Daugherty Added phenotypes Cerebral palsy, spastic quadriplegic, 3, 617008 for gene: ADD3
Severe Paediatric Disorders v0.8 RHOH Louise Daugherty Mode of inheritance for gene RHOH was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
Severe Paediatric Disorders v0.8 MTPAP Louise Daugherty Mode of inheritance for gene MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Severe Paediatric Disorders v0.8 GAD1 Louise Daugherty Mode of inheritance for gene GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
Severe Paediatric Disorders v0.8 CPT1C Louise Daugherty Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.8 ZFYVE26 Louise Daugherty Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Severe Paediatric Disorders v0.8 WDR45B Louise Daugherty Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Severe Paediatric Disorders v0.8 WASHC5 Louise Daugherty Mode of inheritance for gene WASHC5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
Severe Paediatric Disorders v0.8 VAMP1 Louise Daugherty Mode of inheritance for gene VAMP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Severe Paediatric Disorders v0.8 UFC1 Louise Daugherty Mode of inheritance for gene UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Severe Paediatric Disorders v0.8 UCHL1 Louise Daugherty Mode of inheritance for gene UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.8 UBAP1 Louise Daugherty Mode of inheritance for gene UBAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
Severe Paediatric Disorders v0.8 TRAPPC12 Louise Daugherty Mode of inheritance for gene TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
Severe Paediatric Disorders v0.8 TFG Louise Daugherty Mode of inheritance for gene TFG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
Severe Paediatric Disorders v0.8 TECPR2 Louise Daugherty Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.8 SPG7 Louise Daugherty Mode of inheritance for gene SPG7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Severe Paediatric Disorders v0.8 SPG11 Louise Daugherty Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.8 SPAST Louise Daugherty Mode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Severe Paediatric Disorders v0.8 SLC33A1 Louise Daugherty Mode of inheritance for gene SLC33A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
Severe Paediatric Disorders v0.8 SLC1A4 Louise Daugherty Mode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Severe Paediatric Disorders v0.8 SACS Louise Daugherty Mode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Severe Paediatric Disorders v0.8 RTN2 Louise Daugherty Mode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Severe Paediatric Disorders v0.7 SPAST Louise Daugherty Source Next Generation Children Project was added to SPAST.
Severe Paediatric Disorders v0.5 SPAST Louise Daugherty Source Expert Review Green was added to SPAST.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SPAST Louise Daugherty gene: SPAST was added
gene: SPAST was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SPAST was set to