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Familial dysautonomia v1.17 ELP1 Arina Puzriakova Phenotypes for gene: ELP1 were changed from Familial Dysautonomia; Neuropathy, hereditary sensory and autonomic, type 3; Riley-Day Syndrome 223900 to Dysautonomia, familial, OMIM:223900
Familial dysautonomia v1.16 WNK1 Arina Puzriakova Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II 201300 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
Familial dysautonomia v1.15 PHOX2B Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: PHOX2B.
Familial dysautonomia v1.15 DST Dmitrijs Rots reviewed gene: DST: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 30371979; Phenotypes: Neuropathy, hereditary sensory and autonomic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial dysautonomia v1.15 TECPR2 Dmitrijs Rots reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 33847017; Phenotypes: Sensory neuropathy, autonomic neuropathy; Mode of inheritance: None
Familial dysautonomia v1.15 MYO1H Sarah Leigh reviewed gene: MYO1H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial dysautonomia v1.15 MYO1H Sarah Leigh Phenotypes for gene: MYO1H were changed from Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482 to ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Familial dysautonomia v1.14 MYO1H Sarah Leigh Classified gene: MYO1H as Red List (low evidence)
Familial dysautonomia v1.14 MYO1H Sarah Leigh Gene: myo1h has been classified as Red List (Low Evidence).
Familial dysautonomia v1.13 MYO1H Zornitza Stark gene: MYO1H was added
gene: MYO1H was added to Familial dysautonomia. Sources: Literature
Mode of inheritance for gene: MYO1H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO1H were set to 28779001
Phenotypes for gene: MYO1H were set to Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482
Review for gene: MYO1H was set to RED
Added comment: Single family reported with three affected children, homozygous LoF variant.
Sources: Literature
Familial dysautonomia v1.13 KIF1A Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'biallelic' to 'both mono- and biallelic' - features of dysautonomia are observed in multiple KIF1A-related phenotypes, including an autonomic-sensory neuropathy (MIM# 614213) associated with biallelic inheritance and NESCAV syndrome (MIM# 614255) caused by monoallelic variants in this gene. Therefore, both MOIs are pertinent to this panel.
Familial dysautonomia v1.13 KIF1A Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial dysautonomia v1.12 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, OMIM:614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213; NESCAV syndrome, OMIM:614255
Familial dysautonomia v1.11 KIF1A Arina Puzriakova Publications for gene: KIF1A were set to 21820098; 21089229
Familial dysautonomia v1.10 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213
Familial dysautonomia v1.9 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Familial dysautonomia v1.8 Ellen McDonagh Panel types changed to Rare Disease 100K
Familial dysautonomia v1.7 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Familial dysautonomia v1.7 TTR Ellen McDonagh Publications for gene: TTR were set to 12978172
Familial dysautonomia v1.6 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
Familial dysautonomia v1.5 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial dysautonomia PHOX2B Rebecca Foulger commented on PHOX2B
Familial dysautonomia IKBKAP Louise Daugherty commented on IKBKAP
Familial dysautonomia FAM134B Louise Daugherty commented on FAM134B
Familial dysautonomia TECPR2 Horacio Kaufmann reviewed TECPR2
Familial dysautonomia DNMT1 Horacio Kaufmann reviewed DNMT1
Familial dysautonomia ATL3 Horacio Kaufmann reviewed ATL3
Familial dysautonomia ATL1 Horacio Kaufmann reviewed ATL1
Familial dysautonomia WNK1 Horacio Kaufmann reviewed WNK1
Familial dysautonomia TTR Horacio Kaufmann reviewed TTR
Familial dysautonomia SPTLC2 Horacio Kaufmann reviewed SPTLC2
Familial dysautonomia SPTLC1 Horacio Kaufmann reviewed SPTLC1
Familial dysautonomia SCN9A Horacio Kaufmann reviewed SCN9A
Familial dysautonomia SCN11A Horacio Kaufmann reviewed SCN11A
Familial dysautonomia PRNP Horacio Kaufmann reviewed PRNP
Familial dysautonomia PRDM12 Horacio Kaufmann reviewed PRDM12
Familial dysautonomia NTRK1 Horacio Kaufmann reviewed NTRK1
Familial dysautonomia NGF Horacio Kaufmann reviewed NGF
Familial dysautonomia KIF1A Horacio Kaufmann reviewed KIF1A
Familial dysautonomia IKBKAP Horacio Kaufmann reviewed IKBKAP
Familial dysautonomia GMPPA Horacio Kaufmann reviewed GMPPA
Familial dysautonomia FAM134B Horacio Kaufmann reviewed FAM134B
Familial dysautonomia DST Horacio Kaufmann reviewed DST
Familial dysautonomia AAAS Horacio Kaufmann reviewed AAAS
Familial dysautonomia DST Alice Gardham marked DST as ready
Familial dysautonomia DST Alice Gardham classified DST as red
Familial dysautonomia DST Alice Gardham commented on DST
Familial dysautonomia Alice Gardham promoted panel to version 1
Familial dysautonomia PHOX2B Alice Gardham classified PHOX2B as green
Familial dysautonomia SCN11A Alice Gardham edited their review of SCN11A
Familial dysautonomia PHOX2B Alice Gardham marked PHOX2B as ready
Familial dysautonomia PHOX2B Alice Gardham classified PHOX2B as red
Familial dysautonomia PHOX2B Alice Gardham added PHOX2B to panel
Familial dysautonomia PHOX2B Alice Gardham reviewed PHOX2B
Familial dysautonomia COQ2 Alice Gardham marked COQ2 as ready
Familial dysautonomia COQ2 Alice Gardham added COQ2 to panel
Familial dysautonomia COQ2 Alice Gardham reviewed COQ2
Familial dysautonomia PRNP Alice Gardham marked PRNP as ready
Familial dysautonomia PRNP Alice Gardham marked PRNP as ready
Familial dysautonomia TTR Alice Gardham marked TTR as ready
Familial dysautonomia TTR Alice Gardham classified TTR as amber
Familial dysautonomia PRNP Alice Gardham classified PRNP as amber
Familial dysautonomia PRNP Alice Gardham commented on PRNP
Familial dysautonomia SCN11A Sarah Leigh commented on SCN11A
Familial dysautonomia TTR Alice Gardham added TTR to panel
Familial dysautonomia TTR Alice Gardham reviewed TTR
Familial dysautonomia GMPPA Alice Gardham marked GMPPA as ready
Familial dysautonomia GMPPA Alice Gardham classified GMPPA as green
Familial dysautonomia GMPPA Alice Gardham added GMPPA to panel
Familial dysautonomia GMPPA Alice Gardham reviewed GMPPA
Familial dysautonomia AAAS Alice Gardham marked AAAS as ready
Familial dysautonomia AAAS Alice Gardham added AAAS to panel
Familial dysautonomia AAAS Alice Gardham reviewed AAAS
Familial dysautonomia ATL1 Alice Gardham marked ATL1 as ready
Familial dysautonomia ATL1 Alice Gardham classified ATL1 as red
Familial dysautonomia ATL1 Alice Gardham commented on ATL1
Familial dysautonomia TECPR2 Alice Gardham marked TECPR2 as ready
Familial dysautonomia TECPR2 Alice Gardham commented on TECPR2
Familial dysautonomia PRDM12 Alice Gardham classified PRDM12 as green
Familial dysautonomia PRDM12 Alice Gardham marked PRDM12 as ready
Familial dysautonomia PRDM12 Alice Gardham commented on PRDM12
Familial dysautonomia ATL3 Alice Gardham commented on ATL3
Familial dysautonomia ATL3 Alice Gardham marked ATL3 as ready
Familial dysautonomia SPTLC2 Alice Gardham marked SPTLC2 as ready
Familial dysautonomia DNMT1 Alice Gardham marked DNMT1 as ready
Familial dysautonomia DNMT1 Alice Gardham classified DNMT1 as red
Familial dysautonomia DNMT1 Alice Gardham commented on DNMT1
Familial dysautonomia SCN9A Alice Gardham marked SCN9A as ready
Familial dysautonomia SCN9A Alice Gardham added SCN9A to panel
Familial dysautonomia SCN9A Alice Gardham reviewed SCN9A
Familial dysautonomia FAM134B Alice Gardham marked FAM134B as ready
Familial dysautonomia FAM134B Alice Gardham commented on FAM134B
Familial dysautonomia WNK1 Alice Gardham marked WNK1 as ready
Familial dysautonomia WNK1 Alice Gardham commented on WNK1
Familial dysautonomia KIF1A Alice Gardham marked KIF1A as ready
Familial dysautonomia KIF1A Alice Gardham commented on KIF1A
Familial dysautonomia SCN11A Alice Gardham marked SCN11A as ready
Familial dysautonomia SCN11A Alice Gardham commented on SCN11A
Familial dysautonomia SCN11A Alice Gardham classified SCN11A as green
Familial dysautonomia DST Alice Gardham marked DST as ready
Familial dysautonomia NGF Alice Gardham marked NGF as ready
Familial dysautonomia NTRK1 Alice Gardham marked NTRK1 as ready
Familial dysautonomia SPTLC1 Alice Gardham marked SPTLC1 as ready
Familial dysautonomia IKBKAP Alice Gardham marked IKBKAP as ready
Familial dysautonomia FAM134B Sarah Leigh added FAM134B to panel
Familial dysautonomia FAM134B Sarah Leigh reviewed FAM134B
Familial dysautonomia SPTLC1 Sarah Leigh added SPTLC1 to panel
Familial dysautonomia SPTLC1 Sarah Leigh reviewed SPTLC1
Familial dysautonomia PRDM12 Sarah Leigh edited their review of PRDM12
Familial dysautonomia PRDM12 Sarah Leigh added PRDM12 to panel
Familial dysautonomia PRDM12 Sarah Leigh reviewed PRDM12
Familial dysautonomia ATL3 Sarah Leigh added ATL3 to panel
Familial dysautonomia ATL3 Sarah Leigh reviewed ATL3
Familial dysautonomia ATL1 Sarah Leigh edited their review of ATL1
Familial dysautonomia ATL1 Sarah Leigh added ATL1 to panel
Familial dysautonomia ATL1 Sarah Leigh reviewed ATL1
Familial dysautonomia SPTLC2 Sarah Leigh edited their review of SPTLC2
Familial dysautonomia SPTLC2 Sarah Leigh added SPTLC2 to panel
Familial dysautonomia SPTLC2 Sarah Leigh reviewed SPTLC2
Familial dysautonomia DNMT1 Sarah Leigh edited their review of DNMT1
Familial dysautonomia DNMT1 Sarah Leigh edited their review of DNMT1
Familial dysautonomia DNMT1 Sarah Leigh added DNMT1 to panel
Familial dysautonomia DNMT1 Sarah Leigh reviewed DNMT1
Familial dysautonomia PRNP Sarah Leigh commented on PRNP
Familial dysautonomia PRNP Sarah Leigh added PRNP to panel
Familial dysautonomia PRNP Sarah Leigh reviewed PRNP
Familial dysautonomia SCN11A Sarah Leigh edited their review of SCN11A
Familial dysautonomia WNK1 Sarah Leigh edited their review of WNK1
Familial dysautonomia WNK1 Sarah Leigh commented on WNK1
Familial dysautonomia WNK1 Sarah Leigh added WNK1 to panel
Familial dysautonomia WNK1 Sarah Leigh reviewed WNK1
Familial dysautonomia SCN11A Sarah Leigh added SCN11A to panel
Familial dysautonomia SCN11A Sarah Leigh reviewed SCN11A
Familial dysautonomia KIF1A Sarah Leigh edited their review of KIF1A
Familial dysautonomia KIF1A Sarah Leigh added KIF1A to panel
Familial dysautonomia KIF1A Sarah Leigh reviewed KIF1A
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh added DST to panel
Familial dysautonomia DST Sarah Leigh reviewed DST
Familial dysautonomia TECPR2 Sarah Leigh edited their review of TECPR2
Familial dysautonomia TECPR2 Sarah Leigh added TECPR2 to panel
Familial dysautonomia TECPR2 Sarah Leigh reviewed TECPR2
Familial dysautonomia NTRK1 Sarah Leigh edited their review of NTRK1
Familial dysautonomia NTRK1 Sarah Leigh commented on NTRK1
Familial dysautonomia NGF Sarah Leigh edited their review of NGF
Familial dysautonomia NGF Sarah Leigh commented on NGF
Familial dysautonomia IKBKAP Sarah Leigh edited their review of IKBKAP
Familial dysautonomia IKBKAP Sarah Leigh edited their review of IKBKAP
Familial dysautonomia IKBKAP Sarah Leigh commented on IKBKAP