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Hereditary spastic paraplegia - adult onset v1.2 Louise Daugherty removed gene:RNASEH2B from the panel
Hereditary spastic paraplegia - adult onset v1.1 RNASEH2B Zerin Hyder gene: RNASEH2B was added
gene: RNASEH2B was added to Hereditary spastic paraplegia - adult onset. Sources: Other
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Phenotypes for gene: RNASEH2B were set to hereditary spastic paraparesis
Mode of pathogenicity for gene: RNASEH2B was set to Other
Review for gene: RNASEH2B was set to GREEN
Added comment: Above publications report association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: Other
Hereditary spastic paraplegia - adult onset v1.1 L1CAM Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI due to upload of review MOI "X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females" in inclusion of 'recessive' would result in an error with tiering, so has been corrected to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females'
Hereditary spastic paraplegia - adult onset v1.1 L1CAM Louise Daugherty Mode of inheritance for gene: L1CAM was changed from X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v1.0 Louise Daugherty promoted panel to version 1.0
Hereditary spastic paraplegia - adult onset v0.158 CCT5 Louise Daugherty Mode of inheritance for gene: CCT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.157 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Hereditary spastic paraplegia - adult onset v0.156 Louise Daugherty List of related panels changed from to R60
Hereditary spastic paraplegia - adult onset v0.155 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Hereditary spastic paraplegia - adult onset v0.155 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Hereditary spastic paraplegia - adult onset v0.155 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Hereditary spastic paraplegia - adult onset v0.155 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Hereditary spastic paraplegia - adult onset v0.155 ARL6IP1 Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from 24482476; 28471035 to Spastic paraplegia 61, autosomal recessive, 615685
Hereditary spastic paraplegia - adult onset v0.153 UBAP1 Louise Daugherty Source London North GLH was added to UBAP1.
Hereditary spastic paraplegia - adult onset v0.153 ARL6IP1 Louise Daugherty Source London North GLH was added to ARL6IP1.
Hereditary spastic paraplegia - adult onset v0.152 ARL6IP1 Louise Daugherty commented on gene: ARL6IP1: Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as AMBER
Hereditary spastic paraplegia - adult onset v0.152 UBAP1 Louise Daugherty commented on gene: UBAP1: Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as GREEN.
Hereditary spastic paraplegia - adult onset v0.152 ARL6IP1 Louise Daugherty Classified gene: ARL6IP1 as Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.152 ARL6IP1 Louise Daugherty Added comment: Comment on list classification: Gene discussed in view of onset. Gene downgraded from Green to Amber, rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.152 ARL6IP1 Louise Daugherty Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - adult onset v0.151 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Hereditary spastic paraplegia - adult onset v0.151 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN
Hereditary spastic paraplegia - adult onset v0.151 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN
Hereditary spastic paraplegia - adult onset v0.151 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Hereditary spastic paraplegia - adult onset v0.151 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Hereditary spastic paraplegia - adult onset v0.151 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN
Hereditary spastic paraplegia - adult onset v0.151 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Hereditary spastic paraplegia - adult onset v0.151 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN
Hereditary spastic paraplegia - adult onset v0.151 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN
Hereditary spastic paraplegia - adult onset v0.151 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.151 HTT_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. Further comment: risk element- needs further discussion from data analysis from 100K Genomes Project.
Hereditary spastic paraplegia - adult onset v0.151 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - adult onset v0.150 FXN Louise Daugherty Classified gene: FXN as Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.150 FXN Louise Daugherty Gene: fxn has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - adult onset v0.149 FXN Louise Daugherty gene: FXN was added
gene: FXN was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Review for gene: FXN was set to GREEN
Added comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV)
Sources: Expert Review
Hereditary spastic paraplegia - adult onset v0.148 WDR45B Louise Daugherty commented on gene: WDR45B: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 VPS37A Louise Daugherty commented on gene: VPS37A: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 VAMP1 Louise Daugherty commented on gene: VAMP1: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 UCHL1 Louise Daugherty commented on gene: UCHL1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 TECPR2 Louise Daugherty commented on gene: TECPR2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 SPART Louise Daugherty commented on gene: SPART: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 SERAC1 Louise Daugherty commented on gene: SERAC1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 REEP2 Louise Daugherty commented on gene: REEP2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 PSEN1 Louise Daugherty commented on gene: PSEN1: Green gene with Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 POLR3A Louise Daugherty commented on gene: POLR3A: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 NT5C2 Louise Daugherty commented on gene: NT5C2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 MTPAP Louise Daugherty commented on gene: MTPAP: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 MARS2 Louise Daugherty commented on gene: MARS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 MAG Louise Daugherty commented on gene: MAG: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 LYST Louise Daugherty commented on gene: LYST: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 L1CAM Louise Daugherty commented on gene: L1CAM: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 KIF1C Louise Daugherty commented on gene: KIF1C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 KDM5C Louise Daugherty commented on gene: KDM5C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 IBA57 Louise Daugherty commented on gene: IBA57: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 HACE1 Louise Daugherty commented on gene: HACE1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 GJC2 Louise Daugherty commented on gene: GJC2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 GCH1 Louise Daugherty commented on gene: GCH1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 FARS2 Louise Daugherty commented on gene: FARS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ENTPD1 Louise Daugherty commented on gene: ENTPD1: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 DSTYK Louise Daugherty commented on gene: DSTYK: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 DARS Louise Daugherty commented on gene: DARS: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 CPT1C Louise Daugherty commented on gene: CPT1C: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 C19orf12 Louise Daugherty commented on gene: C19orf12: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 C12orf65 Louise Daugherty commented on gene: C12orf65: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 BSCL2 Louise Daugherty commented on gene: BSCL2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ARG1 Louise Daugherty commented on gene: ARG1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AP4S1 Louise Daugherty commented on gene: AP4S1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AP4M1 Louise Daugherty commented on gene: AP4M1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AP4E1 Louise Daugherty commented on gene: AP4E1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AP4B1 Louise Daugherty commented on gene: AP4B1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AMPD2 Louise Daugherty commented on gene: AMPD2: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ALS2 Louise Daugherty commented on gene: ALS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AIMP1 Louise Daugherty commented on gene: AIMP1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.148 ADAR Louise Daugherty commented on gene: ADAR: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia - adult onset v0.147 VPS37A Louise Daugherty Source Expert Review Amber was added to VPS37A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 VAMP1 Louise Daugherty Source Expert Review Amber was added to VAMP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 TECPR2 Louise Daugherty Source Expert Review Amber was added to TECPR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 SLC33A1 Louise Daugherty Source Expert Review Red was added to SLC33A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary spastic paraplegia - adult onset v0.147 POLR3A Louise Daugherty Source Expert Review Green was added to POLR3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.147 MTPAP Louise Daugherty Source Expert Review Amber was added to MTPAP.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 MARS2 Louise Daugherty Source Expert Review Amber was added to MARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 MAG Louise Daugherty Source Expert Review Amber was added to MAG.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 LYST Louise Daugherty Source Expert Review Amber was added to LYST.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 IBA57 Louise Daugherty Source Expert Review Amber was added to IBA57.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 GJC2 Louise Daugherty Source Expert Review Amber was added to GJC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 ENTPD1 Louise Daugherty Source Expert Review Green was added to ENTPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.147 DSTYK Louise Daugherty Source Expert Review Amber was added to DSTYK.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 CPT1C Louise Daugherty Source Expert Review Amber was added to CPT1C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.147 AMPD2 Louise Daugherty Source Expert Review Amber was added to AMPD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.146 SLC25A46 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 POLR3A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CDK16 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 HSPD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ZFYVE26 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 WDR45B Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 WASHC5 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 VPS37A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 VAMP1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 UCHL1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 TUBB4A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 TFG Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 TECPR2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SPG7 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SPG21 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SPG11 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SPAST Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SPART Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SLC33A1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SLC1A4 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SLC16A2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SERAC1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 SACS Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 RTN2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 REEP2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 REEP1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 PSEN1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 PNPLA6 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 PLP1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 OPA3 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 NT5C2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 NKX6-2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 NIPA1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 MTPAP Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 MARS2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 MAG Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 LYST Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 L1CAM Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KIF5A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KIF1C Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KIF1A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KIDINS220 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KDM5C Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 KCNA2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 IBA57 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 HACE1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 GJC2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 GCH1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 GBA2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 FARS2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 FA2H Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ERLIN2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ERLIN1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 DSTYK Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 DDHD2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 DDHD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 DARS Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CYP7B1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CYP2U1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CYP27A1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CPT1C Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 CAPN1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 C19orf12 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 C12orf65 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 BSCL2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 B4GALNT1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ATP13A2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ATL1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ARG1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AP5Z1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AP4S1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AP4M1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AP4E1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AP4B1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AMPD2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AMPD2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ALS2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ALDH18A1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AIMP1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 AFG3L2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ADAR Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ABCD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - adult onset v0.146 ZFYVE27 Louise Daugherty Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Hereditary spastic paraplegia - adult onset v0.145 ZFYVE27 Louise Daugherty Mode of inheritance for gene: ZFYVE27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.144 ZFYVE26 Louise Daugherty Publications for gene: ZFYVE26 were set to
Hereditary spastic paraplegia - adult onset v0.143 WDR48 Louise Daugherty Phenotypes for gene: WDR48 were changed from to Spastic paraplegia
Hereditary spastic paraplegia - adult onset v0.142 WDR48 Louise Daugherty Publications for gene: WDR48 were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.141 WDR48 Louise Daugherty Mode of inheritance for gene: WDR48 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.140 WDR45B Louise Daugherty Publications for gene: WDR45B were set to
Hereditary spastic paraplegia - adult onset v0.139 WASHC5 Louise Daugherty Publications for gene: WASHC5 were set to
Hereditary spastic paraplegia - adult onset v0.138 VPS37A Louise Daugherty Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Hereditary spastic paraplegia - adult onset v0.137 VAMP1 Louise Daugherty Publications for gene: VAMP1 were set to 22958904
Hereditary spastic paraplegia - adult onset v0.136 USP8 Louise Daugherty Publications for gene: USP8 were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.135 USP8 Louise Daugherty Mode of inheritance for gene: USP8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.134 UCHL1 Louise Daugherty Publications for gene: UCHL1 were set to
Hereditary spastic paraplegia - adult onset v0.133 TFG Louise Daugherty Publications for gene: TFG were set to Beetz (2013) 23479643
Hereditary spastic paraplegia - adult onset v0.132 SPG21 Louise Daugherty Publications for gene: SPG21 were set to
Hereditary spastic paraplegia - adult onset v0.131 SPG11 Louise Daugherty Publications for gene: SPG11 were set to
Hereditary spastic paraplegia - adult onset v0.130 SPAST Louise Daugherty Publications for gene: SPAST were set to
Hereditary spastic paraplegia - adult onset v0.129 SPART Louise Daugherty Publications for gene: SPART were set to
Hereditary spastic paraplegia - adult onset v0.128 SLC33A1 Louise Daugherty Publications for gene: SLC33A1 were set to Lin et al. (2008)
Hereditary spastic paraplegia - adult onset v0.127 SLC25A46 Louise Daugherty Publications for gene: SLC25A46 were set to
Hereditary spastic paraplegia - adult onset v0.126 SLC1A4 Louise Daugherty Publications for gene: SLC1A4 were set to
Hereditary spastic paraplegia - adult onset v0.125 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to
Hereditary spastic paraplegia - adult onset v0.124 SERAC1 Louise Daugherty Publications for gene: SERAC1 were set to
Hereditary spastic paraplegia - adult onset v0.123 SACS Louise Daugherty Publications for gene: SACS were set to
Hereditary spastic paraplegia - adult onset v0.122 RTN2 Louise Daugherty Publications for gene: RTN2 were set to
Hereditary spastic paraplegia - adult onset v0.121 REEP2 Louise Daugherty Publications for gene: REEP2 were set to 24388663
Hereditary spastic paraplegia - adult onset v0.120 REEP1 Louise Daugherty Publications for gene: REEP1 were set to
Hereditary spastic paraplegia - adult onset v0.119 RAB3GAP2 Louise Daugherty Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.118 PSEN1 Louise Daugherty Publications for gene: PSEN1 were set to
Hereditary spastic paraplegia - adult onset v0.117 POLR3A Louise Daugherty Publications for gene: POLR3A were set to
Hereditary spastic paraplegia - adult onset v0.116 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to
Hereditary spastic paraplegia - adult onset v0.115 PLP1 Louise Daugherty Publications for gene: PLP1 were set to
Hereditary spastic paraplegia - adult onset v0.114 PGAP1 Louise Daugherty Publications for gene: PGAP1 were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.113 PCDH12 Louise Daugherty Publications for gene: PCDH12 were set to 27164683
Hereditary spastic paraplegia - adult onset v0.112 PCDH12 Louise Daugherty Mode of inheritance for gene: PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.111 NKX6-2 Louise Daugherty Publications for gene: NKX6-2 were set to
Hereditary spastic paraplegia - adult onset v0.110 NIPA1 Louise Daugherty Publications for gene: NIPA1 were set to
Hereditary spastic paraplegia - adult onset v0.109 MTPAP Louise Daugherty Publications for gene: MTPAP were set to
Hereditary spastic paraplegia - adult onset v0.108 MARS Louise Daugherty Publications for gene: MARS were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.107 MARS Louise Daugherty Mode of inheritance for gene: MARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.106 L1CAM Louise Daugherty Publications for gene: L1CAM were set to
Hereditary spastic paraplegia - adult onset v0.105 KLC4 Louise Daugherty Mode of inheritance for gene: KLC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.104 KIF5A Louise Daugherty Publications for gene: KIF5A were set to
Hereditary spastic paraplegia - adult onset v0.103 KIF1C Louise Daugherty Publications for gene: KIF1C were set to 24482476; 24319291; 17273843
Hereditary spastic paraplegia - adult onset v0.102 KIF1A Louise Daugherty Publications for gene: KIF1A were set to
Hereditary spastic paraplegia - adult onset v0.101 KIF1A Louise Daugherty Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.100 KIDINS220 Louise Daugherty Publications for gene: KIDINS220 were set to
Hereditary spastic paraplegia - adult onset v0.99 KDM5C Louise Daugherty Publications for gene: KDM5C were set to 10982473; 26919706; 15586325
Hereditary spastic paraplegia - adult onset v0.98 KCNA2 Louise Daugherty Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.97 KCNA2 Louise Daugherty Publications for gene: KCNA2 were set to 5129488
Hereditary spastic paraplegia - adult onset v0.96 HSPD1 Louise Daugherty Publications for gene: HSPD1 were set to
Hereditary spastic paraplegia - adult onset v0.95 HACE1 Louise Daugherty Publications for gene: HACE1 were set to
Hereditary spastic paraplegia - adult onset v0.94 GJC2 Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR to Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR
Hereditary spastic paraplegia - adult onset v0.93 GJC2 Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Hereditary spastic paraplegia - adult onset v0.92 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Hereditary spastic paraplegia - adult onset v0.91 GAD1 Louise Daugherty Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1, 603513 to Cerebralpalsy, spasticquadriplegic,1, 603513
Hereditary spastic paraplegia - adult onset v0.90 GAD1 Louise Daugherty Publications for gene: GAD1 were set to
Hereditary spastic paraplegia - adult onset v0.89 GAD1 Louise Daugherty Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.88 FA2H Louise Daugherty Publications for gene: FA2H were set to
Hereditary spastic paraplegia - adult onset v0.87 ERLIN2 Louise Daugherty Publications for gene: ERLIN2 were set to
Hereditary spastic paraplegia - adult onset v0.86 ENTPD1 Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64,615683 to Spasticparaplegia 64, 615683
Hereditary spastic paraplegia - adult onset v0.85 ENTPD1 Louise Daugherty Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.84 DDHD2 Louise Daugherty Publications for gene: DDHD2 were set to
Hereditary spastic paraplegia - adult onset v0.83 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to
Hereditary spastic paraplegia - adult onset v0.82 CYP7B1 Louise Daugherty Publications for gene: CYP7B1 were set to
Hereditary spastic paraplegia - adult onset v0.81 CYP2U1 Louise Daugherty Publications for gene: CYP2U1 were set to
Hereditary spastic paraplegia - adult onset v0.80 CPT1C Louise Daugherty Publications for gene: CPT1C were set to
Hereditary spastic paraplegia - adult onset v0.79 CDK16 Louise Daugherty Publications for gene: CDK16 were set to
Hereditary spastic paraplegia - adult onset v0.78 CCT5 Louise Daugherty Publications for gene: CCT5 were set to
Hereditary spastic paraplegia - adult onset v0.77 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to
Hereditary spastic paraplegia - adult onset v0.76 C19orf12 Louise Daugherty Publications for gene: C19orf12 were set to
Hereditary spastic paraplegia - adult onset v0.75 C12orf65 Louise Daugherty Publications for gene: C12orf65 were set to
Hereditary spastic paraplegia - adult onset v0.74 BSCL2 Louise Daugherty Publications for gene: BSCL2 were set to
Hereditary spastic paraplegia - adult onset v0.73 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to
Hereditary spastic paraplegia - adult onset v0.72 ATP13A2 Louise Daugherty Publications for gene: ATP13A2 were set to 28137957; 27217339
Hereditary spastic paraplegia - adult onset v0.71 ATL1 Louise Daugherty Publications for gene: ATL1 were set to
Hereditary spastic paraplegia - adult onset v0.70 ARSI Louise Daugherty Publications for gene: ARSI were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.70 ARSI Louise Daugherty Publications for gene: ARSI were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.69 ARSI Louise Daugherty Mode of inheritance for gene: ARSI was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.68 ARL6IP1 Louise Daugherty Phenotypes for gene: ARL6IP1 were changed from to 24482476; 28471035
Hereditary spastic paraplegia - adult onset v0.67 ARG1 Louise Daugherty Publications for gene: ARG1 were set to
Hereditary spastic paraplegia - adult onset v0.66 AP5Z1 Louise Daugherty Publications for gene: AP5Z1 were set to 27606357
Hereditary spastic paraplegia - adult onset v0.65 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to
Hereditary spastic paraplegia - adult onset v0.64 AP4M1 Louise Daugherty Publications for gene: AP4M1 were set to
Hereditary spastic paraplegia - adult onset v0.63 AP4E1 Louise Daugherty Publications for gene: AP4E1 were set to
Hereditary spastic paraplegia - adult onset v0.62 AP4B1 Louise Daugherty Publications for gene: AP4B1 were set to
Hereditary spastic paraplegia - adult onset v0.61 AMPD2 Louise Daugherty Publications for gene: AMPD2 were set to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.60 ALS2 Louise Daugherty Publications for gene: ALS2 were set to
Hereditary spastic paraplegia - adult onset v0.59 ALDH18A1 Louise Daugherty Publications for gene: ALDH18A1 were set to
Hereditary spastic paraplegia - adult onset v0.58 AIMP1 Louise Daugherty Publications for gene: AIMP1 were set to
Hereditary spastic paraplegia - adult onset v0.57 ADAR Louise Daugherty Publications for gene: ADAR were set to
Hereditary spastic paraplegia - adult onset v0.56 ABCD1 Louise Daugherty Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia - adult onset v0.55 ZFYVE27 Louise Daugherty Source NHS GMS was added to ZFYVE27.
Hereditary spastic paraplegia - adult onset v0.55 ZEB2 Louise Daugherty Source NHS GMS was added to ZEB2.
Hereditary spastic paraplegia - adult onset v0.55 WDR48 Louise Daugherty Source NHS GMS was added to WDR48.
Hereditary spastic paraplegia - adult onset v0.55 USP8 Louise Daugherty Source NHS GMS was added to USP8.
Hereditary spastic paraplegia - adult onset v0.55 UBAP1 Louise Daugherty Source NHS GMS was added to UBAP1.
Hereditary spastic paraplegia - adult onset v0.55 RAB3GAP2 Louise Daugherty Source NHS GMS was added to RAB3GAP2.
Hereditary spastic paraplegia - adult onset v0.55 PGAP1 Louise Daugherty Source NHS GMS was added to PGAP1.
Hereditary spastic paraplegia - adult onset v0.55 PCDH12 Louise Daugherty Source NHS GMS was added to PCDH12.
Hereditary spastic paraplegia - adult onset v0.55 MARS Louise Daugherty Source NHS GMS was added to MARS.
Hereditary spastic paraplegia - adult onset v0.55 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Hereditary spastic paraplegia - adult onset v0.55 GAD1 Louise Daugherty Source NHS GMS was added to GAD1.
Hereditary spastic paraplegia - adult onset v0.55 ENTPD1 Louise Daugherty Source NHS GMS was added to ENTPD1.
Hereditary spastic paraplegia - adult onset v0.55 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Hereditary spastic paraplegia - adult onset v0.55 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Hereditary spastic paraplegia - adult onset v0.55 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Hereditary spastic paraplegia - adult onset v0.54 ZFYVE27 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE27.
Hereditary spastic paraplegia - adult onset v0.54 ZFYVE26 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE26.
Hereditary spastic paraplegia - adult onset v0.54 ZEB2 Louise Daugherty Source Yorkshire and North East GLH was added to ZEB2.
Hereditary spastic paraplegia - adult onset v0.54 WDR48 Louise Daugherty Source Yorkshire and North East GLH was added to WDR48.
Hereditary spastic paraplegia - adult onset v0.54 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Hereditary spastic paraplegia - adult onset v0.54 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Hereditary spastic paraplegia - adult onset v0.54 VPS37A Louise Daugherty Source Yorkshire and North East GLH was added to VPS37A.
Hereditary spastic paraplegia - adult onset v0.54 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Hereditary spastic paraplegia - adult onset v0.54 USP8 Louise Daugherty Source Yorkshire and North East GLH was added to USP8.
Hereditary spastic paraplegia - adult onset v0.54 UCHL1 Louise Daugherty Source Yorkshire and North East GLH was added to UCHL1.
Hereditary spastic paraplegia - adult onset v0.54 UBAP1 Louise Daugherty Source Yorkshire and North East GLH was added to UBAP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.54 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Hereditary spastic paraplegia - adult onset v0.54 TFG Louise Daugherty Source Yorkshire and North East GLH was added to TFG.
Hereditary spastic paraplegia - adult onset v0.54 TECPR2 Louise Daugherty Source Yorkshire and North East GLH was added to TECPR2.
Hereditary spastic paraplegia - adult onset v0.54 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Hereditary spastic paraplegia - adult onset v0.54 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Hereditary spastic paraplegia - adult onset v0.54 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Hereditary spastic paraplegia - adult onset v0.54 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Hereditary spastic paraplegia - adult onset v0.54 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Hereditary spastic paraplegia - adult onset v0.54 SLC33A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC33A1.
Hereditary spastic paraplegia - adult onset v0.54 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Hereditary spastic paraplegia - adult onset v0.54 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Hereditary spastic paraplegia - adult onset v0.54 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Hereditary spastic paraplegia - adult onset v0.54 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Hereditary spastic paraplegia - adult onset v0.54 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Hereditary spastic paraplegia - adult onset v0.54 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Hereditary spastic paraplegia - adult onset v0.54 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Hereditary spastic paraplegia - adult onset v0.54 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Hereditary spastic paraplegia - adult onset v0.54 RAB3GAP2 Louise Daugherty Source Yorkshire and North East GLH was added to RAB3GAP2.
Hereditary spastic paraplegia - adult onset v0.54 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Hereditary spastic paraplegia - adult onset v0.54 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Hereditary spastic paraplegia - adult onset v0.54 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Hereditary spastic paraplegia - adult onset v0.54 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Hereditary spastic paraplegia - adult onset v0.54 PGAP1 Louise Daugherty Source Yorkshire and North East GLH was added to PGAP1.
Hereditary spastic paraplegia - adult onset v0.54 PCDH12 Louise Daugherty Source Yorkshire and North East GLH was added to PCDH12.
Hereditary spastic paraplegia - adult onset v0.54 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Hereditary spastic paraplegia - adult onset v0.54 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Hereditary spastic paraplegia - adult onset v0.54 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Hereditary spastic paraplegia - adult onset v0.54 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Hereditary spastic paraplegia - adult onset v0.54 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Hereditary spastic paraplegia - adult onset v0.54 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Hereditary spastic paraplegia - adult onset v0.54 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Hereditary spastic paraplegia - adult onset v0.54 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Hereditary spastic paraplegia - adult onset v0.54 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Hereditary spastic paraplegia - adult onset v0.54 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Hereditary spastic paraplegia - adult onset v0.54 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Hereditary spastic paraplegia - adult onset v0.54 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Hereditary spastic paraplegia - adult onset v0.54 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Hereditary spastic paraplegia - adult onset v0.54 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Hereditary spastic paraplegia - adult onset v0.54 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Hereditary spastic paraplegia - adult onset v0.54 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Hereditary spastic paraplegia - adult onset v0.54 KCNA2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA2.
Hereditary spastic paraplegia - adult onset v0.54 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Hereditary spastic paraplegia - adult onset v0.54 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Hereditary spastic paraplegia - adult onset v0.54 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Hereditary spastic paraplegia - adult onset v0.54 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Hereditary spastic paraplegia - adult onset v0.54 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Hereditary spastic paraplegia - adult onset v0.54 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Hereditary spastic paraplegia - adult onset v0.54 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Hereditary spastic paraplegia - adult onset v0.54 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Hereditary spastic paraplegia - adult onset v0.54 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Hereditary spastic paraplegia - adult onset v0.54 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Hereditary spastic paraplegia - adult onset v0.54 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Hereditary spastic paraplegia - adult onset v0.54 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Hereditary spastic paraplegia - adult onset v0.54 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Hereditary spastic paraplegia - adult onset v0.54 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Hereditary spastic paraplegia - adult onset v0.54 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Hereditary spastic paraplegia - adult onset v0.54 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Hereditary spastic paraplegia - adult onset v0.54 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Hereditary spastic paraplegia - adult onset v0.54 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Hereditary spastic paraplegia - adult onset v0.54 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Hereditary spastic paraplegia - adult onset v0.54 CPT1C Louise Daugherty Source Yorkshire and North East GLH was added to CPT1C.
Hereditary spastic paraplegia - adult onset v0.54 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Hereditary spastic paraplegia - adult onset v0.54 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Hereditary spastic paraplegia - adult onset v0.54 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Hereditary spastic paraplegia - adult onset v0.54 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Hereditary spastic paraplegia - adult onset v0.54 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Hereditary spastic paraplegia - adult onset v0.54 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Hereditary spastic paraplegia - adult onset v0.54 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Hereditary spastic paraplegia - adult onset v0.54 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Hereditary spastic paraplegia - adult onset v0.54 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Hereditary spastic paraplegia - adult onset v0.54 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Hereditary spastic paraplegia - adult onset v0.54 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.54 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Hereditary spastic paraplegia - adult onset v0.54 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Hereditary spastic paraplegia - adult onset v0.54 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Hereditary spastic paraplegia - adult onset v0.54 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Hereditary spastic paraplegia - adult onset v0.54 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Hereditary spastic paraplegia - adult onset v0.54 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Hereditary spastic paraplegia - adult onset v0.54 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Hereditary spastic paraplegia - adult onset v0.54 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Hereditary spastic paraplegia - adult onset v0.54 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Hereditary spastic paraplegia - adult onset v0.54 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Hereditary spastic paraplegia - adult onset v0.54 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Hereditary spastic paraplegia - adult onset v0.54 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Hereditary spastic paraplegia - adult onset v0.54 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Hereditary spastic paraplegia - adult onset v0.53 ZFYVE27 Nick Beauchamp reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 22554690, 29980238; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.53 ZEB2 Nick Beauchamp reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia - adult onset v0.53 USP8 Nick Beauchamp reviewed gene: USP8: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 RAB3GAP2 Nick Beauchamp reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 PGAP1 Nick Beauchamp reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 PCDH12 Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 WDR48 Nick Beauchamp reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 29691679; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.53 UBAP1 Nick Beauchamp reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929741; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.53 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 24482476, 28471035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 CPT1C Nick Beauchamp reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 VPS37A Nick Beauchamp reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 28503735; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.53 TFG Nick Beauchamp reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 TECPR2 Nick Beauchamp reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SPG21 Nick Beauchamp commented on gene: SPG21: Adult onset, three families reported. No additional patients identified using Sheffield panel.
Hereditary spastic paraplegia - adult onset v0.53 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SPART Nick Beauchamp reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 SLC33A1 Nick Beauchamp reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29989513, 27193218, 26138499, 26041762, 25930971; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.53 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29205472, 22683713, 16527507, 28482397, 28778788, 27186703, 27604308; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 SACS Nick Beauchamp reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 20876471; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22517194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 MAG Nick Beauchamp reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 LYST Nick Beauchamp reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 7920659, 7920660, 7562969; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12355402, 16476820; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KCNA2 Nick Beauchamp reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.53 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.53 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.53 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.53 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 VPS37A Louise Daugherty commented on gene: VPS37A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 UCHL1 Louise Daugherty commented on gene: UCHL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 TFG Louise Daugherty commented on gene: TFG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 TECPR2 Louise Daugherty commented on gene: TECPR2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SPAST Louise Daugherty commented on gene: SPAST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SPART Louise Daugherty commented on gene: SPART: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 SACS Louise Daugherty commented on gene: SACS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 NT5C2 Louise Daugherty commented on gene: NT5C2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 MTPAP Louise Daugherty commented on gene: MTPAP: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 MAG Louise Daugherty commented on gene: MAG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 LYST Louise Daugherty commented on gene: LYST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 KCNA2 Louise Daugherty commented on gene: KCNA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 FA2H Louise Daugherty commented on gene: FA2H: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 DSTYK Louise Daugherty commented on gene: DSTYK: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 DARS Louise Daugherty commented on gene: DARS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CPT1C Louise Daugherty commented on gene: CPT1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ADAR Louise Daugherty commented on gene: ADAR: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.53 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.52 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679, 29528531; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia - adult onset v0.52 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176823, 23486545, 25417924; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 DARS Nick Beauchamp reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643384, 25527264; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 2365823, 1463019, 23859858; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.52 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hereditary spastic paraplegia - adult onset v0.52 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.52 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - adult onset v0.51 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Hereditary spastic paraplegia - adult onset v0.50 WDR48 Louise Daugherty Classified gene: WDR48 as Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.50 WDR48 Louise Daugherty Gene: wdr48 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - adult onset v0.49 GCH1 Michael Bonello commented on gene: GCH1: Upgrade from Amber to Green on the HSP panel. General neurologists may have difficulty distinguishing between patients with HSP and DOPA-responsive dystonia. Therefore if the clinician puts them forward for the HSP panel and this gene isn't included a differential diagnosis could be missed. Importantly - this is a life changing condition that could be treated if a pathogenic variant was identified.
Hereditary spastic paraplegia - adult onset v0.48 ENTPD1 Louise Daugherty Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64,615683
Hereditary spastic paraplegia - adult onset v0.47 ENTPD1 Louise Daugherty Mode of inheritance for gene: ENTPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.46 ENTPD1 Louise Daugherty Classified gene: ENTPD1 as Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.46 ENTPD1 Louise Daugherty Gene: entpd1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - adult onset v0.45 GAD1 Louise Daugherty Classified gene: GAD1 as Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.45 GAD1 Louise Daugherty Gene: gad1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - adult onset v0.44 ARL6IP1 Louise Daugherty Classified gene: ARL6IP1 as Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.44 ARL6IP1 Louise Daugherty Gene: arl6ip1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - adult onset v0.43 PGAP1 Louise Daugherty Mode of inheritance for gene: PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.42 ZFYVE27 Louise Daugherty reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 ZEB2 Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 WDR48 Louise Daugherty reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 VPS37A Louise Daugherty commented on gene: VPS37A: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 USP8 Louise Daugherty reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 TFG Louise Daugherty commented on gene: TFG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 TECPR2 Louise Daugherty commented on gene: TECPR2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 RAB3GAP2 Louise Daugherty reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 PGAP1 Louise Daugherty reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 PCDH12 Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 NT5C2 Louise Daugherty commented on gene: NT5C2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 MTPAP Louise Daugherty commented on gene: MTPAP: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 MAG Louise Daugherty commented on gene: MAG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 LYST Louise Daugherty commented on gene: LYST: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 DSTYK Louise Daugherty commented on gene: DSTYK: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 DARS Louise Daugherty commented on gene: DARS: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.42 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.42 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.41 UCHL1 Louise Daugherty Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.40 MARS2 Louise Daugherty Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.39 MTPAP Louise Daugherty Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.38 NT5C2 Louise Daugherty Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.37 SLC33A1 Louise Daugherty Mode of inheritance for gene: SLC33A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.36 TFG Louise Daugherty Mode of inheritance for gene: TFG was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.35 VAMP1 Louise Daugherty Mode of inheritance for gene: VAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.34 VPS37A Louise Daugherty Mode of inheritance for gene: VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.33 ARL6IP1 Louise Daugherty Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.32 KIF1C Louise Daugherty Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.31 GJC2 Louise Daugherty Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.30 ZFYVE27 Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27
Publications for gene ZFYVE27 were changed from to Mannan AU (2006)
Hereditary spastic paraplegia - adult onset v0.30 WDR48 Louise Daugherty Publications for gene WDR48 were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Publications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)
Hereditary spastic paraplegia - adult onset v0.30 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Publications for gene VAMP1 were changed from to 22958904
Hereditary spastic paraplegia - adult onset v0.30 USP8 Louise Daugherty Publications for gene USP8 were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 TFG Louise Daugherty Publications for gene TFG were changed from to Beetz (2013) 23479643
Hereditary spastic paraplegia - adult onset v0.30 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Publications for gene TECPR2 were changed from to 23176824; 26542466
Hereditary spastic paraplegia - adult onset v0.30 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1
Publications for gene SLC33A1 were changed from to Lin et al. (2008)
Hereditary spastic paraplegia - adult onset v0.30 REEP2 Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Publications for gene REEP2 were changed from to 24388663
Hereditary spastic paraplegia - adult onset v0.30 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2
Publications for gene RAB3GAP2 were changed from to 24482476
Hereditary spastic paraplegia - adult onset v0.30 PSEN1 Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Hereditary spastic paraplegia - adult onset v0.30 PGAP1 Louise Daugherty Publications for gene PGAP1 were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 PCDH12 Louise Daugherty Added phenotypes microcephaly; midbrain abnormalities; perithalamic hyperechogenicity; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12
Publications for gene PCDH12 were changed from to 27164683
Hereditary spastic paraplegia - adult onset v0.30 NT5C2 Louise Daugherty Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2
Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918
Hereditary spastic paraplegia - adult onset v0.30 MTPAP Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Hereditary spastic paraplegia - adult onset v0.30 MARS2 Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Publications for gene MARS2 were changed from to Bayat (2012), 22448145
Hereditary spastic paraplegia - adult onset v0.30 MARS Louise Daugherty Publications for gene MARS were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 MAG Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Publications for gene MAG were changed from to 26179919; 24482476
Hereditary spastic paraplegia - adult onset v0.30 LYST Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST
Publications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960
Hereditary spastic paraplegia - adult onset v0.30 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Publications for gene KLC4 were changed from to 26423925
Hereditary spastic paraplegia - adult onset v0.30 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C
Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843
Hereditary spastic paraplegia - adult onset v0.30 KDM5C Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Publications for gene KDM5C were changed from to 10982473; 26919706; 15586325
Hereditary spastic paraplegia - adult onset v0.30 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Publications for gene IBA57 were changed from to 30258207; 25609768
Hereditary spastic paraplegia - adult onset v0.30 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)
Hereditary spastic paraplegia - adult onset v0.30 GCH1 Louise Daugherty Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Publications for gene GCH1 were changed from to 24509643; 21935284
Hereditary spastic paraplegia - adult onset v0.30 GAD1 Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1
Hereditary spastic paraplegia - adult onset v0.30 ERLIN1 Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Publications for gene ERLIN1 were changed from to 24482476
Hereditary spastic paraplegia - adult onset v0.30 ENTPD1 Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1
Publications for gene ENTPD1 were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK
Publications for gene DSTYK were changed from to 28157540
Hereditary spastic paraplegia - adult onset v0.30 DARS Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Publications for gene DARS were changed from to 23643384; 25527264
Hereditary spastic paraplegia - adult onset v0.30 CCT5 Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
Hereditary spastic paraplegia - adult onset v0.30 ATP13A2 Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Publications for gene ATP13A2 were changed from to 28137957; 27217339
Hereditary spastic paraplegia - adult onset v0.30 ARSI Louise Daugherty Publications for gene ARSI were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.30 ARL6IP1 Louise Daugherty Publications for gene ARL6IP1 were changed from to 24482476; 28471035
Hereditary spastic paraplegia - adult onset v0.30 AP5Z1 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Publications for gene AP5Z1 were changed from to 27606357
Hereditary spastic paraplegia - adult onset v0.30 AMPD2 Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Publications for gene AMPD2 were changed from to Novarino et al. (2014)
Hereditary spastic paraplegia - adult onset v0.29 ZFYVE27 Chris Buxton reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: Mannan AU (2006); Phenotypes: Spastic paraplegia 33, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.29 ZEB2 Chris Buxton reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.29 WDR48 Chris Buxton reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 VPS37A Chris Buxton reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: Zivony-Elboum et al. (2012); Phenotypes: Spastic paraplegia 53, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 VAMP1 Chris Buxton reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.29 USP8 Chris Buxton reviewed gene: USP8: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 TFG Chris Buxton reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: Beetz (2013) 23479643; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 TECPR2 Chris Buxton reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 SLC33A1 Chris Buxton reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: Lin et al. (2008); Phenotypes: Spastic paraplegia 42, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.29 REEP2 Chris Buxton reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24388663; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 RAB3GAP2 Chris Buxton reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: spastic paraplegia, Warburg micro syndrome 2, 614225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.29 PSEN1 Chris Buxton reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.29 PGAP1 Chris Buxton reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 PCDH12 Chris Buxton reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 NT5C2 Chris Buxton reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 28884889, 28327087, 29123918; Phenotypes: Spasticparaplegia45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 MTPAP Chris Buxton reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 MARS2 Chris Buxton reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: Bayat (2012), 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.29 MARS Chris Buxton reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 MAG Chris Buxton reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476, 26179919; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 LYST Chris Buxton reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: 24521565, 26307451, 25519960, 25519961; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 KLC4 Chris Buxton reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: 26423925; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia - adult onset v0.29 KIF1C Chris Buxton reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: Spastic ataxia 2, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 KDM5C Chris Buxton reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: 10982473, 15586325, 26919706; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia - adult onset v0.29 IBA57 Chris Buxton reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: 25609768, 30258207; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 GJC2 Chris Buxton reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Orthmann-Murphy et al. (2009); Phenotypes: Spastic paraplegia 44, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 GCH1 Chris Buxton reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24509643, 21935284; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.29 GAD1 Chris Buxton reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.29 ERLIN1 Chris Buxton reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 ENTPD1 Chris Buxton reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Spasticparaplegia64,615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 DSTYK Chris Buxton reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 DARS Chris Buxton reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23643384, 25527264; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 CCT5 Chris Buxton reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 ATP13A2 Chris Buxton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28137957, 27217339; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 ARSI Chris Buxton reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 ARL6IP1 Chris Buxton reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 AP5Z1 Chris Buxton reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27606357; Phenotypes: Spastic Paraplegia, Recessive , Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.29 AMPD2 Chris Buxton reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Pontocerebellar hypolplasia (biallelic), Hereditary Spastic Paraplegia?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.28 ZFYVE27 Louise Daugherty gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ZFYVE27 was set to
Hereditary spastic paraplegia - adult onset v0.28 ZEB2 Louise Daugherty gene: ZEB2 was added
gene: ZEB2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ZEB2 was set to
Hereditary spastic paraplegia - adult onset v0.28 WDR48 Louise Daugherty gene: WDR48 was added
gene: WDR48 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: WDR48 was set to
Hereditary spastic paraplegia - adult onset v0.28 VPS37A Louise Daugherty Source South West GLH was added to VPS37A.
Hereditary spastic paraplegia - adult onset v0.28 VAMP1 Louise Daugherty Source South West GLH was added to VAMP1.
Hereditary spastic paraplegia - adult onset v0.28 USP8 Louise Daugherty gene: USP8 was added
gene: USP8 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: USP8 was set to
Hereditary spastic paraplegia - adult onset v0.28 TFG Louise Daugherty Source South West GLH was added to TFG.
Hereditary spastic paraplegia - adult onset v0.28 TECPR2 Louise Daugherty Source South West GLH was added to TECPR2.
Hereditary spastic paraplegia - adult onset v0.28 SLC33A1 Louise Daugherty Source South West GLH was added to SLC33A1.
Hereditary spastic paraplegia - adult onset v0.28 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Hereditary spastic paraplegia - adult onset v0.28 RAB3GAP2 Louise Daugherty gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: RAB3GAP2 was set to
Hereditary spastic paraplegia - adult onset v0.28 PSEN1 Louise Daugherty Source South West GLH was added to PSEN1.
Hereditary spastic paraplegia - adult onset v0.28 PGAP1 Louise Daugherty gene: PGAP1 was added
gene: PGAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: PGAP1 was set to
Hereditary spastic paraplegia - adult onset v0.28 PCDH12 Louise Daugherty gene: PCDH12 was added
gene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: PCDH12 was set to
Hereditary spastic paraplegia - adult onset v0.28 NT5C2 Louise Daugherty Source South West GLH was added to NT5C2.
Hereditary spastic paraplegia - adult onset v0.28 MTPAP Louise Daugherty Source South West GLH was added to MTPAP.
Hereditary spastic paraplegia - adult onset v0.28 MARS2 Louise Daugherty Source South West GLH was added to MARS2.
Hereditary spastic paraplegia - adult onset v0.28 MARS Louise Daugherty gene: MARS was added
gene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: MARS was set to
Hereditary spastic paraplegia - adult onset v0.28 MAG Louise Daugherty Source South West GLH was added to MAG.
Hereditary spastic paraplegia - adult onset v0.28 LYST Louise Daugherty Source South West GLH was added to LYST.
Hereditary spastic paraplegia - adult onset v0.28 KLC4 Louise Daugherty gene: KLC4 was added
gene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: KLC4 was set to
Hereditary spastic paraplegia - adult onset v0.28 KIF1C Louise Daugherty Source South West GLH was added to KIF1C.
Hereditary spastic paraplegia - adult onset v0.28 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Hereditary spastic paraplegia - adult onset v0.28 IBA57 Louise Daugherty Source South West GLH was added to IBA57.
Hereditary spastic paraplegia - adult onset v0.28 GJC2 Louise Daugherty Source South West GLH was added to GJC2.
Hereditary spastic paraplegia - adult onset v0.28 GCH1 Louise Daugherty Source South West GLH was added to GCH1.
Hereditary spastic paraplegia - adult onset v0.28 GAD1 Louise Daugherty gene: GAD1 was added
gene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: GAD1 was set to
Hereditary spastic paraplegia - adult onset v0.28 ERLIN1 Louise Daugherty Source South West GLH was added to ERLIN1.
Hereditary spastic paraplegia - adult onset v0.28 ENTPD1 Louise Daugherty gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ENTPD1 was set to
Hereditary spastic paraplegia - adult onset v0.28 DSTYK Louise Daugherty Source South West GLH was added to DSTYK.
Hereditary spastic paraplegia - adult onset v0.28 DARS Louise Daugherty Source South West GLH was added to DARS.
Hereditary spastic paraplegia - adult onset v0.28 CCT5 Louise Daugherty gene: CCT5 was added
gene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: CCT5 was set to
Hereditary spastic paraplegia - adult onset v0.28 ATP13A2 Louise Daugherty Source South West GLH was added to ATP13A2.
Hereditary spastic paraplegia - adult onset v0.28 ARSI Louise Daugherty gene: ARSI was added
gene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ARSI was set to
Hereditary spastic paraplegia - adult onset v0.28 ARL6IP1 Louise Daugherty gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ARL6IP1 was set to
Hereditary spastic paraplegia - adult onset v0.28 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Hereditary spastic paraplegia - adult onset v0.28 AMPD2 Louise Daugherty Source South West GLH was added to AMPD2.
Hereditary spastic paraplegia - adult onset v0.27 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.27 GCH1 Louise Daugherty Source North West GLH was added to GCH1.
Mode of inheritance for gene GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.26 GCH1 Michael Bonello reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.25 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia - adult onset v0.25 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str (Variants in this STR are reported as part of current diagnostic practice)
Hereditary spastic paraplegia - adult onset v0.25 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment str (Variants in this STR are reported as part of current diagnostic practice); Changed rating: AMBER
Hereditary spastic paraplegia - adult onset v0.25 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.25 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.25 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. Diagnostic utility in question due to the expansion size > 60 CAGs; Changed rating: AMBER
Hereditary spastic paraplegia - adult onset v0.25 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia - adult onset v0.25 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?; Changed rating: AMBER
Hereditary spastic paraplegia - adult onset v0.25 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia - adult onset v0.25 ATXN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia - adult onset v0.25 TBP_CAG Louise Daugherty Source NHS GMS was added to STR: TBP_CAG.
Hereditary spastic paraplegia - adult onset v0.25 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia - adult onset v0.25 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v0.25 FXN_GAA Louise Daugherty Source NHS GMS was added to STR: FXN_GAA.
Hereditary spastic paraplegia - adult onset v0.25 CACNA1A_CAG Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia - adult onset v0.25 ATXN7_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia - adult onset v0.25 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia - adult onset v0.25 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia - adult onset v0.25 ATXN10_ATTCT Louise Daugherty Source NHS GMS was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia - adult onset v0.24 ATXN1_CAG Louise Daugherty Source South West GLH was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia - adult onset v0.24 TBP_CAG Louise Daugherty Source South West GLH was added to STR: TBP_CAG.
Hereditary spastic paraplegia - adult onset v0.24 PPP2R2B_CAG Louise Daugherty Source South West GLH was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia - adult onset v0.24 HTT_CAG Louise Daugherty Source South West GLH was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v0.24 FXN_GAA Louise Daugherty Source South West GLH was added to STR: FXN_GAA.
Hereditary spastic paraplegia - adult onset v0.24 CACNA1A_CAG Louise Daugherty Source South West GLH was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia - adult onset v0.24 ATXN7_CAG Louise Daugherty Source South West GLH was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia - adult onset v0.24 ATXN3_CAG Louise Daugherty Source South West GLH was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia - adult onset v0.24 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia - adult onset v0.24 ATXN10_ATTCT Louise Daugherty Source South West GLH was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia - adult onset v0.23 ATXN1_CAG Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.23 TBP_CAG Louise Daugherty Source London North GLH was added to STR: TBP_CAG.
Hereditary spastic paraplegia - adult onset v0.23 PPP2R2B_CAG Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia - adult onset v0.23 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v0.23 FXN_GAA Louise Daugherty Source London North GLH was added to STR: FXN_GAA.
Hereditary spastic paraplegia - adult onset v0.23 CACNA1A_CAG Louise Daugherty Source London North GLH was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia - adult onset v0.23 ATXN7_CAG Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia - adult onset v0.23 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia - adult onset v0.23 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia - adult onset v0.23 ATXN10_ATTCT Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia - adult onset v0.22 TBP_CAG Louise Daugherty Source Expert Review Green was added to STR: TBP_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 PPP2R2B_CAG Louise Daugherty Source Expert Review Green was added to STR: PPP2R2B_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 HTT_CAG Louise Daugherty Source Expert Review Green was added to STR: HTT_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 FXN_GAA Louise Daugherty Source Expert Review Green was added to STR: FXN_GAA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 CACNA1A_CAG Louise Daugherty Source Expert Review Green was added to STR: CACNA1A_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 ATXN7_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN7_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 ATXN3_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN3_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.22 ATXN2_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN2_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.21 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.20 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.19 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.18 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.17 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.16 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.15 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.14 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.13 ATXN10_ATTCT Louise Daugherty Source Expert Review Green was added to STR: ATXN10_ATTCT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.12 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.11 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.11 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - adult onset v0.10 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.9 Louise Daugherty removed STR:ATN1_CAG from the panel
Hereditary spastic paraplegia - adult onset v0.8 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.8 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia - adult onset v0.7 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Sources: Expert list
Hereditary spastic paraplegia - adult onset v0.6 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SLC33A1 Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CPT1C Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AIMP1 Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.6 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 WDR45B James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 WASHC5 James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 VPS37A James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898, AR ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 VAMP1 James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600 ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 UCHL1 James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 4, torsion, autosomal dominant, 128101, Leukodystrophy, hypomyelinating, 612438 AD, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive 615658,AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 TECPR2 James Polke reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive,615031, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, autosomal recessive, Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 SPART James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SLC33A1 James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.5 SERAC1 James Polke reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739, MEGDEL syndrome, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 RTN2 James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 REEP2 James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Recessive Ataxia, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 PLP1 James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.5 OPA3 James Polke reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 NT5C2 James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 NIPA1 James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 MTPAP James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672 ; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 MARS2 James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 MAG James Polke reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 L1CAM James Polke reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome, 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.5 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 KIF1C James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 KDM5C James Polke reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia - adult onset v0.5 KCNA2 James Polke reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: Hereditary spastic paraplegia and ataxia; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 IBA57 James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 HSPD1 James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 HACE1 James Polke reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 GJC2 James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, AR, Spastic paraplegia 44, autosomal recessive 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance:
Hereditary spastic paraplegia - adult onset v0.5 GCH1 James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 FARS2 James Polke reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 FA2H James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ERLIN1 James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 DSTYK James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 DDHD2 James Polke reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 DDHD1 James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 DARS James Polke reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 CPT1C James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - adult onset v0.5 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55, autosomal recessive, 615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 BSCL2 James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome, 270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ATL1 James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600 autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia - adult onset v0.5 ARG1 James Polke reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AP5Z1 James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive, 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AP4S1 James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AP4M1 James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AP4E1 James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AP4B1 James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AMPD2 James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AIMP1 James Polke reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ADAR James Polke reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010 autosomal recessive, Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v0.5 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary spastic paraplegia - adult onset v0.4 ZFYVE26 Louise Daugherty Source Expert Review Green was added to ZFYVE26.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 WDR45B Louise Daugherty Source Expert Review Green was added to WDR45B.
Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 WASHC5 Louise Daugherty Source Expert Review Green was added to WASHC5.
Mode of inheritance for gene WASHC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 VPS37A Louise Daugherty Source Expert Review Green was added to VPS37A.
Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898, AR for gene: VPS37A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 VAMP1 Louise Daugherty Source Expert Review Green was added to VAMP1.
Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 UCHL1 Louise Daugherty Source Expert Review Green was added to UCHL1.
Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491, AR for gene: UCHL1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 TUBB4A Louise Daugherty Source Expert Review Green was added to TUBB4A.
Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; ataxia; Leukodystrophy, hypomyelinating, 612438 AD for gene: TUBB4A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 TFG Louise Daugherty Source Expert Review Green was added to TFG.
Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR for gene: TFG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 TECPR2 Louise Daugherty Source Expert Review Green was added to TECPR2.
Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 49, autosomal recessive,615031, AR for gene: TECPR2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SPG7 Louise Daugherty Source Expert Review Green was added to SPG7.
Mode of inheritance for gene SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SPG21 Louise Daugherty Source Expert Review Green was added to SPG21.
Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SPG11 Louise Daugherty Source Expert Review Green was added to SPG11.
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, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SPAST Louise Daugherty Source Expert Review Green was added to SPAST.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SPART Louise Daugherty Source Expert Review Green was added to SPART.
Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SLC33A1 Louise Daugherty Source Expert Review Green was added to SLC33A1.
Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SLC25A46 Louise Daugherty Source Expert Review Red was added to SLC25A46.
Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Hereditary spastic paraplegia - adult onset v0.4 SLC1A4 Louise Daugherty Source Expert Review Green was added to SLC1A4.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SLC16A2 Louise Daugherty Source Expert Review Green was added to SLC16A2.
Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SERAC1 Louise Daugherty Source Expert Review Green was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 SACS Louise Daugherty Source Expert Review Green was added to SACS.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 RTN2 Louise Daugherty Source Expert Review Green was added to RTN2.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 REEP2 Louise Daugherty Source Expert Review Green was added to REEP2.
Mode of inheritance for gene REEP2 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: REEP2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 REEP1 Louise Daugherty Source Expert Review Green was added to REEP1.
Mode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 PSEN1 Louise Daugherty Source Expert Review Green was added to PSEN1.
Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques for gene: PSEN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 POLR3A Louise Daugherty Source Expert Review Red was added to POLR3A.
Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A
Hereditary spastic paraplegia - adult onset v0.4 PNPLA6 Louise Daugherty Source Expert Review Green was added to PNPLA6.
Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 PLP1 Louise Daugherty Source Expert Review Green was added to PLP1.
Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spastic paraplegia 2, X-linked recessive, 312920 for gene: PLP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 OPA3 Louise Daugherty Source Expert Review Green was added to OPA3.
Mode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 NT5C2 Louise Daugherty Source Expert Review Green was added to NT5C2.
Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 NKX6-2 Louise Daugherty Source Expert Review Green was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 NIPA1 Louise Daugherty Source Expert Review Green was added to NIPA1.
Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 for gene: NIPA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 MTPAP Louise Daugherty Source Expert Review Green was added to MTPAP.
Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 MARS2 Louise Daugherty Source Expert Review Green was added to MARS2.
Added phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 MAG Louise Daugherty Source Expert Review Green was added to MAG.
Mode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 LYST Louise Daugherty Source Expert Review Green was added to LYST.
Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Chediak-Higashi syndrome, 214500; Spastic paraplegia for gene: LYST
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 L1CAM Louise Daugherty Source Expert Review Green was added to L1CAM.
Mode of inheritance for gene L1CAM was changed from to X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 for gene: L1CAM
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KIF5A Louise Daugherty Source Expert Review Green was added to KIF5A.
Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 for gene: KIF5A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KIF1C Louise Daugherty Source Expert Review Green was added to KIF1C.
Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KIF1A Louise Daugherty Source Expert Review Green was added to KIF1A.
Mode of inheritance for gene KIF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD for gene: KIF1A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KIDINS220 Louise Daugherty Source Expert Review Green was added to KIDINS220.
Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KDM5C Louise Daugherty Source Expert Review Green was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 KCNA2 Louise Daugherty Source Expert Review Green was added to KCNA2.
Added phenotypes Hereditary spastic paraplegia and ataxia for gene: KCNA2
Publications for gene KCNA2 were changed from to 5129488
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 IBA57 Louise Daugherty Source Expert Review Green was added to IBA57.
Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 HSPD1 Louise Daugherty Source Expert Review Amber was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v0.4 HACE1 Louise Daugherty Source Expert Review Green was added to HACE1.
Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 GJC2 Louise Daugherty Source Expert Review Green was added to GJC2.
Added phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 GCH1 Louise Daugherty Source Expert Review Green was added to GCH1.
Mode of inheritance for gene GCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 GBA2 Louise Daugherty Source Expert Review Green was added to GBA2.
Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 FARS2 Louise Daugherty Source Expert Review Green was added to FARS2.
Mode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 FA2H Louise Daugherty Source Expert Review Green was added to FA2H.
Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 35, autosomal recessive, 611026 for gene: FA2H
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ERLIN2 Louise Daugherty Source Expert Review Green was added to ERLIN2.
Mode of inheritance for gene ERLIN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia, autosomal dominant; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia for gene: ERLIN2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ERLIN1 Louise Daugherty Source Expert Review Green was added to ERLIN1.
Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 DSTYK Louise Daugherty Source Expert Review Green was added to DSTYK.
Mode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 DDHD2 Louise Daugherty Source Expert Review Green was added to DDHD2.
Mode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 DDHD1 Louise Daugherty Source Expert Review Green was added to DDHD1.
Mode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 DARS Louise Daugherty Source Expert Review Green was added to DARS.
Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 CYP7B1 Louise Daugherty Source Expert Review Green was added to CYP7B1.
Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 CYP2U1 Louise Daugherty Source Expert Review Green was added to CYP2U1.
Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 CYP27A1 Louise Daugherty Source Expert Review Green was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 CPT1C Louise Daugherty Source Expert Review Green was added to CPT1C.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 CDK16 Louise Daugherty Source Expert Review Red was added to CDK16.
Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16
Hereditary spastic paraplegia - adult onset v0.4 CAPN1 Louise Daugherty Source Expert Review Green was added to CAPN1.
Mode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 C19orf12 Louise Daugherty Source Expert Review Green was added to C19orf12.
Mode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 C12orf65 Louise Daugherty Source Expert Review Green was added to C12orf65.
Mode of inheritance for gene C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 BSCL2 Louise Daugherty Source Expert Review Green was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 B4GALNT1 Louise Daugherty Source Expert Review Green was added to B4GALNT1.
Mode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ATP13A2 Louise Daugherty Source Expert Review Green was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ATL1 Louise Daugherty Source Expert Review Green was added to ATL1.
Mode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ARG1 Louise Daugherty Source Expert Review Green was added to ARG1.
Mode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AP5Z1 Louise Daugherty Source Expert Review Green was added to AP5Z1.
Mode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AP4S1 Louise Daugherty Source Expert Review Green was added to AP4S1.
Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AP4M1 Louise Daugherty Source Expert Review Green was added to AP4M1.
Mode of inheritance for gene AP4M1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AP4E1 Louise Daugherty Source Expert Review Green was added to AP4E1.
Mode of inheritance for gene AP4E1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AP4B1 Louise Daugherty Source Expert Review Green was added to AP4B1.
Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AMPD2 Louise Daugherty Source Expert Review Green was added to AMPD2.
Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ALS2 Louise Daugherty Source Expert Review Green was added to ALS2.
Mode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 for gene: ALS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ALDH18A1 Louise Daugherty Source Expert Review Green was added to ALDH18A1.
Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 9B, autosomal recessive 616586; SPG9; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Cutis laxa, autosomal dominant 3 616603; Spastic paraplegia 9A, autosomal dominant 601162; Cutis laxa, autosomal recessive, type IIIA 219150 for gene: ALDH18A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AIMP1 Louise Daugherty Source Expert Review Green was added to AIMP1.
Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 AFG3L2 Louise Daugherty Source Expert Review Green was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ADAR Louise Daugherty Source Expert Review Green was added to ADAR.
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 for gene: ADAR
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.4 ABCD1 Louise Daugherty Source Expert Review Green was added to ABCD1.
Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes spastic paraparesis; Hereditary spastic paraplegia; VLCFA accumulation; adrenal failure; Adrenoleukodystrophy, 300100 for gene: ABCD1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v0.3 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Hereditary spastic paraplegia - adult onset v0.3 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Hereditary spastic paraplegia - adult onset v0.3 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Hereditary spastic paraplegia - adult onset v0.3 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Hereditary spastic paraplegia - adult onset v0.3 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Hereditary spastic paraplegia - adult onset v0.3 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Hereditary spastic paraplegia - adult onset v0.3 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Hereditary spastic paraplegia - adult onset v0.3 TFG Louise Daugherty Source NHS GMS was added to TFG.
Hereditary spastic paraplegia - adult onset v0.3 TECPR2 Louise Daugherty Source NHS GMS was added to TECPR2.
Hereditary spastic paraplegia - adult onset v0.3 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Hereditary spastic paraplegia - adult onset v0.3 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Hereditary spastic paraplegia - adult onset v0.3 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Hereditary spastic paraplegia - adult onset v0.3 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Hereditary spastic paraplegia - adult onset v0.3 SPART Louise Daugherty Source NHS GMS was added to SPART.
Hereditary spastic paraplegia - adult onset v0.3 SLC33A1 Louise Daugherty Source NHS GMS was added to SLC33A1.
Hereditary spastic paraplegia - adult onset v0.3 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Hereditary spastic paraplegia - adult onset v0.3 SLC1A4 Louise Daugherty Source NHS GMS was added to SLC1A4.
Hereditary spastic paraplegia - adult onset v0.3 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Hereditary spastic paraplegia - adult onset v0.3 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Hereditary spastic paraplegia - adult onset v0.3 SACS Louise Daugherty Source NHS GMS was added to SACS.
Hereditary spastic paraplegia - adult onset v0.3 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Hereditary spastic paraplegia - adult onset v0.3 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Hereditary spastic paraplegia - adult onset v0.3 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Hereditary spastic paraplegia - adult onset v0.3 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Hereditary spastic paraplegia - adult onset v0.3 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Hereditary spastic paraplegia - adult onset v0.3 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Hereditary spastic paraplegia - adult onset v0.3 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Hereditary spastic paraplegia - adult onset v0.3 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Hereditary spastic paraplegia - adult onset v0.3 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Hereditary spastic paraplegia - adult onset v0.3 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Hereditary spastic paraplegia - adult onset v0.3 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Hereditary spastic paraplegia - adult onset v0.3 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Hereditary spastic paraplegia - adult onset v0.3 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Hereditary spastic paraplegia - adult onset v0.3 MAG Louise Daugherty Source NHS GMS was added to MAG.
Hereditary spastic paraplegia - adult onset v0.3 LYST Louise Daugherty Source NHS GMS was added to LYST.
Hereditary spastic paraplegia - adult onset v0.3 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Hereditary spastic paraplegia - adult onset v0.3 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Hereditary spastic paraplegia - adult onset v0.3 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Hereditary spastic paraplegia - adult onset v0.3 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Hereditary spastic paraplegia - adult onset v0.3 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Hereditary spastic paraplegia - adult onset v0.3 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Hereditary spastic paraplegia - adult onset v0.3 KCNA2 Louise Daugherty Source NHS GMS was added to KCNA2.
Hereditary spastic paraplegia - adult onset v0.3 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Hereditary spastic paraplegia - adult onset v0.3 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Hereditary spastic paraplegia - adult onset v0.3 HACE1 Louise Daugherty Source NHS GMS was added to HACE1.
Hereditary spastic paraplegia - adult onset v0.3 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Hereditary spastic paraplegia - adult onset v0.3 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Hereditary spastic paraplegia - adult onset v0.3 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Hereditary spastic paraplegia - adult onset v0.3 FARS2 Louise Daugherty Source NHS GMS was added to FARS2.
Hereditary spastic paraplegia - adult onset v0.3 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Hereditary spastic paraplegia - adult onset v0.3 ERLIN2 Louise Daugherty Source NHS GMS was added to ERLIN2.
Hereditary spastic paraplegia - adult onset v0.3 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Hereditary spastic paraplegia - adult onset v0.3 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Hereditary spastic paraplegia - adult onset v0.3 DDHD2 Louise Daugherty Source NHS GMS was added to DDHD2.
Hereditary spastic paraplegia - adult onset v0.3 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Hereditary spastic paraplegia - adult onset v0.3 DARS Louise Daugherty Source NHS GMS was added to DARS.
Hereditary spastic paraplegia - adult onset v0.3 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Hereditary spastic paraplegia - adult onset v0.3 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Hereditary spastic paraplegia - adult onset v0.3 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Hereditary spastic paraplegia - adult onset v0.3 CPT1C Louise Daugherty Source NHS GMS was added to CPT1C.
Hereditary spastic paraplegia - adult onset v0.3 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Hereditary spastic paraplegia - adult onset v0.3 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Hereditary spastic paraplegia - adult onset v0.3 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Hereditary spastic paraplegia - adult onset v0.3 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Hereditary spastic paraplegia - adult onset v0.3 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Hereditary spastic paraplegia - adult onset v0.3 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Hereditary spastic paraplegia - adult onset v0.3 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Hereditary spastic paraplegia - adult onset v0.3 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Hereditary spastic paraplegia - adult onset v0.3 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Hereditary spastic paraplegia - adult onset v0.3 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Hereditary spastic paraplegia - adult onset v0.3 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Hereditary spastic paraplegia - adult onset v0.3 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Hereditary spastic paraplegia - adult onset v0.3 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Hereditary spastic paraplegia - adult onset v0.3 AP4B1 Louise Daugherty Source NHS GMS was added to AP4B1.
Hereditary spastic paraplegia - adult onset v0.3 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Hereditary spastic paraplegia - adult onset v0.3 ALS2 Louise Daugherty Source NHS GMS was added to ALS2.
Hereditary spastic paraplegia - adult onset v0.3 ALDH18A1 Louise Daugherty Source NHS GMS was added to ALDH18A1.
Hereditary spastic paraplegia - adult onset v0.3 AIMP1 Louise Daugherty Source NHS GMS was added to AIMP1.
Hereditary spastic paraplegia - adult onset v0.3 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Hereditary spastic paraplegia - adult onset v0.3 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Hereditary spastic paraplegia - adult onset v0.3 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Hereditary spastic paraplegia - adult onset v0.2 ZFYVE26 Louise Daugherty gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ZFYVE26 was set to
Hereditary spastic paraplegia - adult onset v0.2 WDR45B Louise Daugherty gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: WDR45B was set to
Hereditary spastic paraplegia - adult onset v0.2 WASHC5 Louise Daugherty gene: WASHC5 was added
gene: WASHC5 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: WASHC5 was set to
Hereditary spastic paraplegia - adult onset v0.2 VPS37A Louise Daugherty gene: VPS37A was added
gene: VPS37A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: VPS37A was set to
Hereditary spastic paraplegia - adult onset v0.2 VAMP1 Louise Daugherty gene: VAMP1 was added
gene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: VAMP1 was set to
Hereditary spastic paraplegia - adult onset v0.2 UCHL1 Louise Daugherty gene: UCHL1 was added
gene: UCHL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: UCHL1 was set to
Hereditary spastic paraplegia - adult onset v0.2 TUBB4A Louise Daugherty gene: TUBB4A was added
gene: TUBB4A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TUBB4A was set to
Hereditary spastic paraplegia - adult onset v0.2 TFG Louise Daugherty gene: TFG was added
gene: TFG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TFG was set to
Hereditary spastic paraplegia - adult onset v0.2 TECPR2 Louise Daugherty gene: TECPR2 was added
gene: TECPR2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TECPR2 was set to
Hereditary spastic paraplegia - adult onset v0.2 SPG7 Louise Daugherty gene: SPG7 was added
gene: SPG7 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG7 was set to
Hereditary spastic paraplegia - adult onset v0.2 SPG21 Louise Daugherty gene: SPG21 was added
gene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG21 was set to
Hereditary spastic paraplegia - adult onset v0.2 SPG11 Louise Daugherty gene: SPG11 was added
gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG11 was set to
Hereditary spastic paraplegia - adult onset v0.2 SPAST Louise Daugherty gene: SPAST was added
gene: SPAST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPAST was set to
Hereditary spastic paraplegia - adult onset v0.2 SPART Louise Daugherty gene: SPART was added
gene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPART was set to
Hereditary spastic paraplegia - adult onset v0.2 SLC33A1 Louise Daugherty gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC33A1 was set to
Hereditary spastic paraplegia - adult onset v0.2 SLC25A46 Louise Daugherty gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC25A46 was set to
Hereditary spastic paraplegia - adult onset v0.2 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC1A4 was set to
Hereditary spastic paraplegia - adult onset v0.2 SLC16A2 Louise Daugherty gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC16A2 was set to
Hereditary spastic paraplegia - adult onset v0.2 SERAC1 Louise Daugherty gene: SERAC1 was added
gene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SERAC1 was set to
Hereditary spastic paraplegia - adult onset v0.2 SACS Louise Daugherty gene: SACS was added
gene: SACS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SACS was set to
Hereditary spastic paraplegia - adult onset v0.2 RTN2 Louise Daugherty gene: RTN2 was added
gene: RTN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: RTN2 was set to
Hereditary spastic paraplegia - adult onset v0.2 REEP2 Louise Daugherty gene: REEP2 was added
gene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: REEP2 was set to
Hereditary spastic paraplegia - adult onset v0.2 REEP1 Louise Daugherty gene: REEP1 was added
gene: REEP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: REEP1 was set to
Hereditary spastic paraplegia - adult onset v0.2 PSEN1 Louise Daugherty gene: PSEN1 was added
gene: PSEN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PSEN1 was set to
Hereditary spastic paraplegia - adult onset v0.2 POLR3A Louise Daugherty gene: POLR3A was added
gene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: POLR3A was set to
Hereditary spastic paraplegia - adult onset v0.2 PNPLA6 Louise Daugherty gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PNPLA6 was set to
Hereditary spastic paraplegia - adult onset v0.2 PLP1 Louise Daugherty gene: PLP1 was added
gene: PLP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PLP1 was set to
Hereditary spastic paraplegia - adult onset v0.2 OPA3 Louise Daugherty gene: OPA3 was added
gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: OPA3 was set to
Hereditary spastic paraplegia - adult onset v0.2 NT5C2 Louise Daugherty gene: NT5C2 was added
gene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NT5C2 was set to
Hereditary spastic paraplegia - adult onset v0.2 NKX6-2 Louise Daugherty gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NKX6-2 was set to
Hereditary spastic paraplegia - adult onset v0.2 NIPA1 Louise Daugherty gene: NIPA1 was added
gene: NIPA1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NIPA1 was set to
Hereditary spastic paraplegia - adult onset v0.2 MTPAP Louise Daugherty gene: MTPAP was added
gene: MTPAP was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MTPAP was set to
Hereditary spastic paraplegia - adult onset v0.2 MARS2 Louise Daugherty gene: MARS2 was added
gene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MARS2 was set to
Hereditary spastic paraplegia - adult onset v0.2 MAG Louise Daugherty gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MAG was set to
Hereditary spastic paraplegia - adult onset v0.2 LYST Louise Daugherty gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: LYST was set to
Hereditary spastic paraplegia - adult onset v0.2 L1CAM Louise Daugherty gene: L1CAM was added
gene: L1CAM was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: L1CAM was set to
Hereditary spastic paraplegia - adult onset v0.2 KIF5A Louise Daugherty gene: KIF5A was added
gene: KIF5A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF5A was set to
Hereditary spastic paraplegia - adult onset v0.2 KIF1C Louise Daugherty gene: KIF1C was added
gene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF1C was set to
Hereditary spastic paraplegia - adult onset v0.2 KIF1A Louise Daugherty gene: KIF1A was added
gene: KIF1A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF1A was set to
Hereditary spastic paraplegia - adult onset v0.2 KIDINS220 Louise Daugherty gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIDINS220 was set to
Hereditary spastic paraplegia - adult onset v0.2 KDM5C Louise Daugherty gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KDM5C was set to
Hereditary spastic paraplegia - adult onset v0.2 KCNA2 Louise Daugherty gene: KCNA2 was added
gene: KCNA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KCNA2 was set to
Hereditary spastic paraplegia - adult onset v0.2 IBA57 Louise Daugherty gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: IBA57 was set to
Hereditary spastic paraplegia - adult onset v0.2 HSPD1 Louise Daugherty gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: HSPD1 was set to
Hereditary spastic paraplegia - adult onset v0.2 HACE1 Louise Daugherty gene: HACE1 was added
gene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: HACE1 was set to
Hereditary spastic paraplegia - adult onset v0.2 GJC2 Louise Daugherty gene: GJC2 was added
gene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GJC2 was set to
Hereditary spastic paraplegia - adult onset v0.2 GCH1 Louise Daugherty gene: GCH1 was added
gene: GCH1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GCH1 was set to
Hereditary spastic paraplegia - adult onset v0.2 GBA2 Louise Daugherty gene: GBA2 was added
gene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GBA2 was set to
Hereditary spastic paraplegia - adult onset v0.2 FARS2 Louise Daugherty gene: FARS2 was added
gene: FARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: FARS2 was set to
Hereditary spastic paraplegia - adult onset v0.2 FA2H Louise Daugherty gene: FA2H was added
gene: FA2H was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: FA2H was set to
Hereditary spastic paraplegia - adult onset v0.2 ERLIN2 Louise Daugherty gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ERLIN2 was set to
Hereditary spastic paraplegia - adult onset v0.2 ERLIN1 Louise Daugherty gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ERLIN1 was set to
Hereditary spastic paraplegia - adult onset v0.2 DSTYK Louise Daugherty gene: DSTYK was added
gene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DSTYK was set to
Hereditary spastic paraplegia - adult onset v0.2 DDHD2 Louise Daugherty gene: DDHD2 was added
gene: DDHD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DDHD2 was set to
Hereditary spastic paraplegia - adult onset v0.2 DDHD1 Louise Daugherty gene: DDHD1 was added
gene: DDHD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DDHD1 was set to
Hereditary spastic paraplegia - adult onset v0.2 DARS Louise Daugherty gene: DARS was added
gene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DARS was set to
Hereditary spastic paraplegia - adult onset v0.2 CYP7B1 Louise Daugherty gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP7B1 was set to
Hereditary spastic paraplegia - adult onset v0.2 CYP2U1 Louise Daugherty gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP2U1 was set to
Hereditary spastic paraplegia - adult onset v0.2 CYP27A1 Louise Daugherty gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP27A1 was set to
Hereditary spastic paraplegia - adult onset v0.2 CPT1C Louise Daugherty gene: CPT1C was added
gene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CPT1C was set to
Hereditary spastic paraplegia - adult onset v0.2 CDK16 Louise Daugherty gene: CDK16 was added
gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CDK16 was set to
Hereditary spastic paraplegia - adult onset v0.2 CAPN1 Louise Daugherty gene: CAPN1 was added
gene: CAPN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CAPN1 was set to
Hereditary spastic paraplegia - adult onset v0.2 C19orf12 Louise Daugherty gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: C19orf12 was set to
Hereditary spastic paraplegia - adult onset v0.2 C12orf65 Louise Daugherty gene: C12orf65 was added
gene: C12orf65 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: C12orf65 was set to
Hereditary spastic paraplegia - adult onset v0.2 BSCL2 Louise Daugherty gene: BSCL2 was added
gene: BSCL2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: BSCL2 was set to
Hereditary spastic paraplegia - adult onset v0.2 B4GALNT1 Louise Daugherty gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: B4GALNT1 was set to
Hereditary spastic paraplegia - adult onset v0.2 ATP13A2 Louise Daugherty gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ATP13A2 was set to
Hereditary spastic paraplegia - adult onset v0.2 ATL1 Louise Daugherty gene: ATL1 was added
gene: ATL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ATL1 was set to
Hereditary spastic paraplegia - adult onset v0.2 ARG1 Louise Daugherty gene: ARG1 was added
gene: ARG1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ARG1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AP5Z1 Louise Daugherty gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP5Z1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AP4S1 Louise Daugherty gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4S1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AP4M1 Louise Daugherty gene: AP4M1 was added
gene: AP4M1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4M1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AP4E1 Louise Daugherty gene: AP4E1 was added
gene: AP4E1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4E1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AP4B1 Louise Daugherty gene: AP4B1 was added
gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4B1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AMPD2 Louise Daugherty gene: AMPD2 was added
gene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AMPD2 was set to
Hereditary spastic paraplegia - adult onset v0.2 ALS2 Louise Daugherty gene: ALS2 was added
gene: ALS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ALS2 was set to
Hereditary spastic paraplegia - adult onset v0.2 ALDH18A1 Louise Daugherty gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ALDH18A1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AIMP1 Louise Daugherty gene: AIMP1 was added
gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AIMP1 was set to
Hereditary spastic paraplegia - adult onset v0.2 AFG3L2 Louise Daugherty gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AFG3L2 was set to
Hereditary spastic paraplegia - adult onset v0.2 ADAR Louise Daugherty gene: ADAR was added
gene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ADAR was set to
Hereditary spastic paraplegia - adult onset v0.2 ABCD1 Louise Daugherty gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ABCD1 was set to
Hereditary spastic paraplegia - adult onset v0.0 Ellen McDonagh Added Panel Hereditary spastic paraplegia - adult onset
Set panel types to: GMS Rare Disease