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Pain syndromes v1.9 FLVCR1 Tomislav Kokotovic gene: FLVCR1 was added
gene: FLVCR1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 27923065
Phenotypes for gene: FLVCR1 were set to insensitivity to pain; neurodevelopmental delay; joint hypermobility; scoliosis; dysautonomia
Penetrance for gene: FLVCR1 were set to unknown
Review for gene: FLVCR1 was set to AMBER
Added comment: Sources: Literature
Pain syndromes v1.9 FAAH Tomislav Kokotovic reviewed gene: FAAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 30929760; Phenotypes: insensitivity to pain, increased healing; Mode of inheritance: Unknown
Pain syndromes v1.9 FAAH Tomislav Kokotovic Deleted their review
Pain syndromes v1.9 FAAH Tomislav Kokotovic gene: FAAH was added
gene: FAAH was added to Pain syndromes. Sources: Other
Mode of inheritance for gene: FAAH was set to Unknown
Publications for gene: FAAH were set to 30929760
Phenotypes for gene: FAAH were set to insensitivity to pain, healing
Review for gene: FAAH was set to AMBER
Added comment: Sources: Other
Pain syndromes v1.9 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Red List (low evidence)
Pain syndromes v1.9 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red. Gene was added to the panel and rated Green by external expert Michael Coleman (11 Sept 2019). Currently insufficient evidence for a Green rating: one case (2 siblings) with pain disorder in PMID:31132363, and a mouse model. Not currently associated with a phenotype in OMIM or Gene2Phenotype. Therefore rated Red awaiting further evidence.
Pain syndromes v1.9 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Red List (Low Evidence).
Pain syndromes v1.8 NMNAT2 Rebecca Foulger commented on gene: NMNAT2
Pain syndromes v1.8 PRDM12 Rebecca Foulger commented on gene: PRDM12
Pain syndromes v1.8 PRDM12 Rebecca Foulger Phenotypes for gene: PRDM12 were changed from Hereditary sensory and autonomic neuropathy type VIII; HSAN 8; Neuropathy, hereditary sensory and autonomic, type VIII, 616488 to HSAN VIII; insensitivity to pain; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8; Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Pain syndromes v1.7 PRDM12 Rebecca Foulger Publications for gene: PRDM12 were set to 26005867; 26975306
Pain syndromes v1.6 PRDM12 Tomislav Kokotovic reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 25891934; Phenotypes: HSAN VIII, insensitivity to pain; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v1.6 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Pain syndromes. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies).
Sources: Research
Pain syndromes v1.6 TTR Ellen McDonagh Publications for gene: TTR were set to 3011930; 14640030; 28678039; 26800456; 25069833; 12771253; 19365058; 16433699; 8309582; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.
Pain syndromes v1.5 TTR Ellen McDonagh reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None
Pain syndromes v1.5 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Pain syndromes v1.4 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Pain syndromes v1.4 SEPT9 Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
Pain syndromes v1.4 FAAHP1 Louise Daugherty commented on gene: FAAHP1: From HGNC the authors PMID:30929760 specify that they used hg19in their CNV analysis (GRCh37). Looking in GRCh37 annotations in the archived version of Ensembl, gene they call ‘FAAH-OUT’ was not annotated at the time, except as http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232022;r=1:46897801-46911193;tl=YL1ImqsrtgZ7MKxn-5146184-727716019. Doing a BLAST search with the FAAH cDNA on GRCh38 in Ensembl 95 detected both FAAH (ENSG00000117480) and a gene now annotated as ENSG00000232022 in the appropriate location of the genome. HGNC named this as FAAHP1 in 2014. FAAH-OUT is an alias for FAAHP1.
Pain syndromes v1.4 FAAHP1 Louise Daugherty gene: FAAHP1 was added
gene: FAAHP1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Review for gene: FAAHP1 was set to RED
Added comment: FAAH-OUT is an alias for FAAHP1.
From OMIM Habib et al. (2019) PMID: 30929760 identified a heterozygous approximately 8-kb heterozygous microdeletion on chromosome 1, about 4.7 kb downstream of the 3-prime end of the FAAH gene. Molecular cloning identified novel 5-prime exons of an expressed FAAH pseudogene, termed FAAHP1 (FAAH-OUT), that mapped within the microdeletion. The microdeletion removed the promoter and first 2 exons of the neighboring FAAHP1 gene. The authors noted that the deleted region is flanked by ALU sequences, which may predispose it to deletion by unequal crossing over. The affected woman also carried a heterozygous hypomorphic polymorphism in the FAAH gene (P129T; 602935.0001) that reduces FAAH enzyme activity. The patient's son, who exhibited some pain insensitivity, carried the microdeletion but not the hypomorphic FAAH allele. The woman's unaffected mother and daughter did not carry the microdeletion, but both carried the FAAH polymorphism in heterozygous state. The proband had approximately triple the levels of various circulating fatty acid amides normally degraded by FAAH compared with controls who were either homozygous wildtype or heterozygous for the hypomorphic FAAH allele. The authors proposed that the microdeletion affects FAAH function either by removing a regulatory element for FAAH or by reducing expression of FAAH-OUT, which may regulate FAAH epigenetically or function as a microRNA decoy for FAAH. One Colombian male sequenced in the 1000 Genomes Project carried a similar microdeletion, but his pain sensitivity was unknown, and he was homozygous wildtype for the FAAH allele. The case provided new insights into the role of the endocannabinoid system in analgesia.
Sources: Literature
Pain syndromes v1.3 Ellen McDonagh List of related panels changed from neuropathic pain;Pain channelopathies to neuropathic pain; Pain channelopathies
Pain syndromes Louise Daugherty promoted panel to version 1
Pain syndromes PRNP Louise Daugherty commented on PRNP
Pain syndromes MPV17 Louise Daugherty edited their review of MPV17
Pain syndromes MPV17 Arianna Tucci edited their review of MPV17
Pain syndromes PRNP Arianna Tucci marked PRNP as ready
Pain syndromes PRNP Arianna Tucci classified PRNP as green
Pain syndromes PRNP Arianna Tucci added PRNP to panel
Pain syndromes PRNP Arianna Tucci reviewed PRNP
Pain syndromes GLA Arianna Tucci marked GLA as ready
Pain syndromes GLA Arianna Tucci classified GLA as green
Pain syndromes GLA Arianna Tucci added GLA to panel
Pain syndromes GLA Arianna Tucci reviewed GLA
Pain syndromes TRPA1 Arianna Tucci commented on TRPA1
Pain syndromes Louise Daugherty approved panel
Pain syndromes NGF Louise Daugherty classified NGF as green
Pain syndromes KIF1A Louise Daugherty classified KIF1A as green
Pain syndromes IKBKAP Louise Daugherty classified IKBKAP as green
Pain syndromes ATL3 Louise Daugherty classified ATL3 as green
Pain syndromes NGF Arianna Tucci edited their review of NGF
Pain syndromes KIF1A Louise Daugherty edited their review of KIF1A
Pain syndromes CLTCL1 Arianna Tucci reviewed CLTCL1
Pain syndromes CCT5 Arianna Tucci reviewed CCT5
Pain syndromes NAGLU Arianna Tucci commented on NAGLU
Pain syndromes MPV17 Arianna Tucci reviewed MPV17
Pain syndromes KIF1A Arianna Tucci edited their review of KIF1A
Pain syndromes KIF1A Arianna Tucci commented on KIF1A
Pain syndromes IKBKAP Arianna Tucci commented on IKBKAP
Pain syndromes ATL3 Arianna Tucci reviewed ATL3
Pain syndromes NAGLU Louise Daugherty edited their review of NAGLU
Pain syndromes IKBKAP Louise Daugherty edited their review of IKBKAP
Pain syndromes IKBKAP Louise Daugherty commented on IKBKAP
Pain syndromes TRPA1 Louise Daugherty edited their review of TRPA1
Pain syndromes CCT5 Louise Daugherty commented on CCT5
Pain syndromes TRPA1 Louise Daugherty classified TRPA1 as green
Pain syndromes WNK1 Louise Daugherty classified WNK1 as green
Pain syndromes TTR Louise Daugherty classified TTR as green
Pain syndromes SPTLC2 Louise Daugherty classified SPTLC2 as green
Pain syndromes SPTLC1 Louise Daugherty classified SPTLC1 as green
Pain syndromes SEPT9 Louise Daugherty classified SEPT9 as green
Pain syndromes SCN9A Louise Daugherty classified SCN9A as green
Pain syndromes SCN11A Louise Daugherty classified SCN11A as green
Pain syndromes SCN10A Louise Daugherty classified SCN10A as green
Pain syndromes RAB7A Louise Daugherty classified RAB7A as green
Pain syndromes PRDM12 Louise Daugherty classified PRDM12 as green
Pain syndromes NTRK1 Louise Daugherty classified NTRK1 as green
Pain syndromes NGF Louise Daugherty classified NGF as amber
Pain syndromes NAGLU Louise Daugherty classified NAGLU as amber
Pain syndromes MPV17 Louise Daugherty classified MPV17 as amber
Pain syndromes KIF1A Louise Daugherty classified KIF1A as amber
Pain syndromes ATL1 Louise Daugherty classified ATL1 as green
Pain syndromes ATL3 Louise Daugherty commented on ATL3
Pain syndromes IKBKAP Louise Daugherty classified IKBKAP as amber
Pain syndromes FAM134B Louise Daugherty classified FAM134B as green
Pain syndromes TRPA1 Louise Daugherty classified TRPA1 as amber
Pain syndromes ATL3 Louise Daugherty classified ATL3 as amber
Pain syndromes TRPA1 Louise Daugherty reviewed TRPA1
Pain syndromes NAGLU Louise Daugherty reviewed NAGLU
Pain syndromes MPV17 Louise Daugherty reviewed MPV17
Pain syndromes KIF1A Louise Daugherty reviewed KIF1A
Pain syndromes CLTCL1 Louise Daugherty reviewed CLTCL1
Pain syndromes CCT5 Louise Daugherty reviewed CCT5
Pain syndromes ALTL3 Louise Daugherty reviewed ALTL3*
Pain syndromes ATL1 Louise Daugherty reviewed ATL1
Pain syndromes WNK1 Louise Daugherty reviewed WNK1
Pain syndromes TTR Louise Daugherty reviewed TTR
Pain syndromes SPTLC2 Louise Daugherty reviewed SPTLC2
Pain syndromes SPTLC1 Louise Daugherty reviewed SPTLC1
Pain syndromes SEPT9 Louise Daugherty reviewed SEPT9
Pain syndromes SCN11A Louise Daugherty reviewed SCN11A
Pain syndromes SCN10A Louise Daugherty reviewed SCN10A
Pain syndromes SCN9A Louise Daugherty reviewed SCN9A
Pain syndromes RAB7A Louise Daugherty reviewed RAB7A
Pain syndromes PRDM12 Louise Daugherty reviewed PRDM12
Pain syndromes NTRK1 Louise Daugherty reviewed NTRK1
Pain syndromes NGF Louise Daugherty reviewed NGF
Pain syndromes IKBKAP Louise Daugherty reviewed IKBKAP
Pain syndromes FAM134B Louise Daugherty reviewed FAM134B
Pain syndromes WNK1 BRIDGE consortium reviewed WNK1
Pain syndromes TTR BRIDGE consortium reviewed TTR
Pain syndromes SPTLC2 BRIDGE consortium reviewed SPTLC2
Pain syndromes SPTLC1 BRIDGE consortium reviewed SPTLC1
Pain syndromes SEPT9 BRIDGE consortium reviewed SEPT9
Pain syndromes SCN11A BRIDGE consortium reviewed SCN11A
Pain syndromes SCN10A BRIDGE consortium reviewed SCN10A
Pain syndromes SCN9A BRIDGE consortium reviewed SCN9A
Pain syndromes RAB7A BRIDGE consortium reviewed RAB7A
Pain syndromes PRDM12 BRIDGE consortium reviewed PRDM12
Pain syndromes NTRK1 BRIDGE consortium reviewed NTRK1
Pain syndromes NGF BRIDGE consortium reviewed NGF
Pain syndromes IKBKAP BRIDGE consortium reviewed IKBKAP
Pain syndromes FAM134B BRIDGE consortium reviewed FAM134B