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Thoracic dystrophies v1.12 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Thoracic dystrophies v1.12 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Thoracic dystrophies v1.12 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Thoracic dystrophies v1.12 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Thoracic dystrophies v1.11 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651; ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Thoracic dystrophies v1.10 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune Asphyxiating Thoracic Dystrophy to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD
Thoracic dystrophies v1.9 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Thoracic dystrophies v1.8 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Thoracic dystrophies v1.7 WDR34 Catherine Snow commented on gene: WDR34
Thoracic dystrophies v1.7 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Thoracic dystrophies v1.7 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Thoracic dystrophies v1.7 WDR60 Catherine Snow commented on gene: WDR60
Thoracic dystrophies v1.7 ICK Eleanor Williams commented on gene: ICK
Thoracic dystrophies v1.7 ICK Eleanor Williams Tag new-gene-name tag was added to gene: ICK.
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype in terms of short ribs / narrow chest and neonatal respiratory distress
Thoracic dystrophies v1.7 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Thoracic dystrophies v1.6 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Thoracic dystrophies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Thoracic dystrophies v1.5 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Thoracic dystrophies v1.4 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Thoracic dystrophies C21orf2 Louise Daugherty commented on gene: C21orf2
Thoracic dystrophies ATXN10 Ellen McDonagh reviewed STR: ATXN10_ATTCT
Thoracic dystrophies ATXN10 Ellen McDonagh Added STR to panel
Thoracic dystrophies C2orf71 Louise Daugherty commented on gene: C2orf71
Thoracic dystrophies C5orf42 Louise Daugherty commented on C5orf42
Thoracic dystrophies Ellen McDonagh promoted panel to version 1
Thoracic dystrophies WDR60 Melita Irving edited their review of WDR60
Thoracic dystrophies WDR34 Melita Irving edited their review of WDR34
Thoracic dystrophies TCTEX1D2 Melita Irving edited their review of TCTEX1D2
Thoracic dystrophies WDR60 Hannah Mitchison edited their review of WDR60
Thoracic dystrophies WDR34 Hannah Mitchison edited their review of WDR34
Thoracic dystrophies TCTEX1D2 Hannah Mitchison edited their review of TCTEX1D2
Thoracic dystrophies TMEM107 Ellen McDonagh classified TMEM107 as amber
Thoracic dystrophies TMEM107 Ellen McDonagh commented on TMEM107
Thoracic dystrophies TBC1D32 Ellen McDonagh commented on TBC1D32
Thoracic dystrophies SCLT1 Ellen McDonagh marked SCLT1 as ready
Thoracic dystrophies SCLT1 Ellen McDonagh classified SCLT1 as red
Thoracic dystrophies SCLT1 Ellen McDonagh commented on SCLT1
Thoracic dystrophies TCTEX1D2 Ellen McDonagh marked TCTEX1D2 as ready
Thoracic dystrophies WDR60 Ellen McDonagh marked WDR60 as ready
Thoracic dystrophies WDR60 Ellen McDonagh commented on WDR60
Thoracic dystrophies WDR60 Ellen McDonagh classified WDR60 as green
Thoracic dystrophies TCTEX1D2 Ellen McDonagh classified TCTEX1D2 as green
Thoracic dystrophies TCTEX1D2 Ellen McDonagh commented on TCTEX1D2
Thoracic dystrophies WDR34 Ellen McDonagh marked WDR34 as ready
Thoracic dystrophies WDR34 Ellen McDonagh classified WDR34 as green
Thoracic dystrophies WDR34 Ellen McDonagh commented on WDR34
Thoracic dystrophies ZIC3 Helen Brittain marked ZIC3 as ready
Thoracic dystrophies ZIC3 Helen Brittain classified ZIC3 as red
Thoracic dystrophies INTU Helen Brittain marked INTU as ready
Thoracic dystrophies INTU Helen Brittain commented on INTU
Thoracic dystrophies IFT81 Helen Brittain marked IFT81 as ready
Thoracic dystrophies IFT81 Helen Brittain classified IFT81 as green
Thoracic dystrophies IFT81 Helen Brittain commented on IFT81
Thoracic dystrophies IFT52 Helen Brittain marked IFT52 as ready
Thoracic dystrophies IFT52 Helen Brittain classified IFT52 as green
Thoracic dystrophies IFT43 Helen Brittain commented on IFT43
Thoracic dystrophies IFT43 Helen Brittain marked IFT43 as ready
Thoracic dystrophies IFT43 Helen Brittain classified IFT43 as green
Thoracic dystrophies DDX59 Helen Brittain marked DDX59 as ready
Thoracic dystrophies C5orf42 Helen Brittain marked C5orf42 as ready
Thoracic dystrophies C5orf42 Helen Brittain classified C5orf42 as red
Thoracic dystrophies WDR34 Ellen McDonagh classified WDR34 as amber
Thoracic dystrophies WDR34 Ellen McDonagh classified WDR34 as amber
Thoracic dystrophies ZIC3 Ellen McDonagh classified ZIC3 as amber
Thoracic dystrophies INTU Ellen McDonagh classified INTU as amber
Thoracic dystrophies INTU Ellen McDonagh classified INTU as red
Thoracic dystrophies INTU Ellen McDonagh commented on INTU
Thoracic dystrophies IFT81 Ellen McDonagh classified IFT81 as amber
Thoracic dystrophies IFT81 Ellen McDonagh classified IFT81 as amber
Thoracic dystrophies IFT81 Ellen McDonagh commented on IFT81
Thoracic dystrophies IFT52 Ellen McDonagh classified IFT52 as amber
Thoracic dystrophies IFT52 Ellen McDonagh commented on IFT52
Thoracic dystrophies IFT43 Ellen McDonagh classified IFT43 as amber
Thoracic dystrophies IFT43 Ellen McDonagh commented on IFT43
Thoracic dystrophies IFT122 Ellen McDonagh marked IFT122 as ready
Thoracic dystrophies IFT122 Ellen McDonagh classified IFT122 as green
Thoracic dystrophies IFT122 Ellen McDonagh commented on IFT122
Thoracic dystrophies ICK Ellen McDonagh marked ICK as ready
Thoracic dystrophies ICK Ellen McDonagh classified ICK as green
Thoracic dystrophies ICK Ellen McDonagh classified ICK as amber
Thoracic dystrophies ICK Ellen McDonagh commented on ICK
Thoracic dystrophies DDX59 Ellen McDonagh classified DDX59 as amber
Thoracic dystrophies DDX59 Ellen McDonagh commented on DDX59
Thoracic dystrophies CSPP1 Ellen McDonagh marked CSPP1 as ready
Thoracic dystrophies CSPP1 Ellen McDonagh classified CSPP1 as green
Thoracic dystrophies CSPP1 Ellen McDonagh commented on CSPP1
Thoracic dystrophies CEP120 Ellen McDonagh marked CEP120 as ready
Thoracic dystrophies CEP120 Ellen McDonagh classified CEP120 as green
Thoracic dystrophies CEP120 Ellen McDonagh commented on CEP120
Thoracic dystrophies C5orf42 Ellen McDonagh classified C5orf42 as amber
Thoracic dystrophies C21orf2 Ellen McDonagh marked C21orf2 as ready
Thoracic dystrophies C21orf2 Ellen McDonagh classified C21orf2 as green
Thoracic dystrophies C21orf2 Ellen McDonagh commented on C21orf2
Thoracic dystrophies WDR35 Melita Irving reviewed WDR35
Thoracic dystrophies WDR19 Melita Irving reviewed WDR19
Thoracic dystrophies TTC21B Melita Irving reviewed TTC21B
Thoracic dystrophies ZNF423 Melita Irving reviewed ZNF423
Thoracic dystrophies ZIC3 Melita Irving reviewed ZIC3
Thoracic dystrophies XPNPEP3 Melita Irving reviewed XPNPEP3
Thoracic dystrophies WDR60 Melita Irving reviewed WDR60
Thoracic dystrophies WDR34 Melita Irving reviewed WDR34
Thoracic dystrophies WDPCP Melita Irving reviewed WDPCP
Thoracic dystrophies VHL Melita Irving reviewed VHL
Thoracic dystrophies USH2A Melita Irving reviewed USH2A
Thoracic dystrophies USH1G Melita Irving reviewed USH1G
Thoracic dystrophies USH1C Melita Irving reviewed USH1C
Thoracic dystrophies UMOD Melita Irving reviewed UMOD
Thoracic dystrophies TULP1 Melita Irving reviewed TULP1
Thoracic dystrophies TTC8 Melita Irving reviewed TTC8
Thoracic dystrophies TSC2 Melita Irving reviewed TSC2
Thoracic dystrophies TSC1 Melita Irving reviewed TSC1
Thoracic dystrophies TRIM32 Melita Irving reviewed TRIM32
Thoracic dystrophies TOPORS Melita Irving reviewed TOPORS
Thoracic dystrophies TMEM67 Melita Irving reviewed TMEM67
Thoracic dystrophies TMEM237 Melita Irving reviewed TMEM237
Thoracic dystrophies TMEM231 Melita Irving reviewed TMEM231
Thoracic dystrophies TMEM216 Melita Irving reviewed TMEM216
Thoracic dystrophies TMEM138 Melita Irving reviewed TMEM138
Thoracic dystrophies TMEM107 Melita Irving reviewed TMEM107
Thoracic dystrophies TCTN2 Melita Irving reviewed TCTN2
Thoracic dystrophies TCTN1 Melita Irving reviewed TCTN1
Thoracic dystrophies TCTEX1D2 Melita Irving reviewed TCTEX1D2
Thoracic dystrophies TBC1D32 Melita Irving reviewed TBC1D32
Thoracic dystrophies SPATA7 Melita Irving reviewed SPATA7
Thoracic dystrophies SDCCAG8 Melita Irving reviewed SDCCAG8
Thoracic dystrophies SCNN1G Melita Irving reviewed SCNN1G
Thoracic dystrophies SCNN1B Melita Irving reviewed SCNN1B
Thoracic dystrophies SCNN1A Melita Irving reviewed SCNN1A
Thoracic dystrophies SCLT1 Melita Irving reviewed SCLT1
Thoracic dystrophies RSPH9 Melita Irving reviewed RSPH9
Thoracic dystrophies RSPH4A Melita Irving reviewed RSPH4A
Thoracic dystrophies RPGRIP1L Melita Irving reviewed RPGRIP1L
Thoracic dystrophies RPGRIP1 Melita Irving reviewed RPGRIP1
Thoracic dystrophies RPGR Melita Irving reviewed RPGR
Thoracic dystrophies RPE65 Melita Irving reviewed RPE65
Thoracic dystrophies RDH12 Melita Irving reviewed RDH12
Thoracic dystrophies RD3 Melita Irving reviewed RD3
Thoracic dystrophies PKHD1 Melita Irving reviewed PKHD1
Thoracic dystrophies PKD2 Melita Irving reviewed PKD2
Thoracic dystrophies PCDH15 Melita Irving reviewed PCDH15
Thoracic dystrophies OFD1 Melita Irving reviewed OFD1
Thoracic dystrophies NPHP4 Melita Irving reviewed NPHP4
Thoracic dystrophies NPHP3 Melita Irving reviewed NPHP3
Thoracic dystrophies NPHP1 Melita Irving reviewed NPHP1
Thoracic dystrophies NODAL Melita Irving reviewed NODAL
Thoracic dystrophies NME8 Melita Irving reviewed NME8
Thoracic dystrophies NKX2-5 Melita Irving reviewed NKX2-5
Thoracic dystrophies NEK8 Melita Irving reviewed NEK8
Thoracic dystrophies MYO7A Melita Irving reviewed MYO7A
Thoracic dystrophies MKS1 Melita Irving reviewed MKS1
Thoracic dystrophies MKKS Melita Irving reviewed MKKS
Thoracic dystrophies LRAT Melita Irving reviewed LRAT
Thoracic dystrophies LEFTY2 Melita Irving reviewed LEFTY2
Thoracic dystrophies LCA5 Melita Irving reviewed LCA5
Thoracic dystrophies KIF7 Melita Irving reviewed KIF7
Thoracic dystrophies KIAA0586 Melita Irving reviewed KIAA0586
Thoracic dystrophies KCNJ13 Melita Irving reviewed KCNJ13
Thoracic dystrophies IQCB1 Melita Irving reviewed IQCB1
Thoracic dystrophies INVS Melita Irving reviewed INVS
Thoracic dystrophies INTU Melita Irving reviewed INTU
Thoracic dystrophies IMPDH1 Melita Irving reviewed IMPDH1
Thoracic dystrophies IFT81 Melita Irving reviewed IFT81
Thoracic dystrophies IFT52 Melita Irving reviewed IFT52
Thoracic dystrophies IFT172 Melita Irving reviewed IFT172
Thoracic dystrophies IFT140 Melita Irving edited their review of IFT140
Thoracic dystrophies IFT122 Melita Irving reviewed IFT122
Thoracic dystrophies IFT43 Melita Irving reviewed IFT43
Thoracic dystrophies ICK Melita Irving reviewed ICK
Thoracic dystrophies HYLS1 Melita Irving reviewed HYLS1
Thoracic dystrophies GUCY2D Melita Irving reviewed GUCY2D
Thoracic dystrophies GLIS2 Melita Irving reviewed GLIS2
Thoracic dystrophies GDF1 Melita Irving reviewed GDF1
Thoracic dystrophies FOXH1 Melita Irving reviewed FOXH1
Thoracic dystrophies DYNC2LI1 Melita Irving reviewed DYNC2LI1
Thoracic dystrophies DNAL1 Melita Irving reviewed DNAL1
Thoracic dystrophies DNAI2 Melita Irving reviewed DNAI2
Thoracic dystrophies DNAI1 Melita Irving reviewed DNAI1
Thoracic dystrophies DNAH5 Melita Irving reviewed DNAH5
Thoracic dystrophies DNAH11 Melita Irving reviewed DNAH11
Thoracic dystrophies DNAAF3 Melita Irving reviewed DNAAF3
Thoracic dystrophies DNAAF2 Melita Irving reviewed DNAAF2
Thoracic dystrophies DNAAF1 Melita Irving reviewed DNAAF1
Thoracic dystrophies DFNB31 Melita Irving reviewed DFNB31
Thoracic dystrophies DDX59 Melita Irving reviewed DDX59
Thoracic dystrophies CSPP1 Melita Irving reviewed CSPP1
Thoracic dystrophies CRX Melita Irving reviewed CRX
Thoracic dystrophies CRELD1 Melita Irving reviewed CRELD1
Thoracic dystrophies CRB1 Melita Irving reviewed CRB1
Thoracic dystrophies CLRN1 Melita Irving reviewed CLRN1
Thoracic dystrophies CFTR Melita Irving reviewed CFTR
Thoracic dystrophies CEP41 Melita Irving reviewed CEP41
Thoracic dystrophies CEP290 Melita Irving reviewed CEP290
Thoracic dystrophies CEP164 Melita Irving reviewed CEP164
Thoracic dystrophies CEP120 Melita Irving reviewed CEP120
Thoracic dystrophies CDH23 Melita Irving reviewed CDH23
Thoracic dystrophies CCDC40 Melita Irving reviewed CCDC40
Thoracic dystrophies CCDC39 Melita Irving reviewed CCDC39
Thoracic dystrophies CCDC28B Melita Irving reviewed CCDC28B
Thoracic dystrophies CC2D2A Melita Irving reviewed CC2D2A
Thoracic dystrophies C5orf42 Melita Irving reviewed C5orf42
Thoracic dystrophies C2CD3 Melita Irving reviewed C2CD3
Thoracic dystrophies C2orf71 Melita Irving reviewed C2orf71
Thoracic dystrophies BBS9 Melita Irving reviewed BBS9
Thoracic dystrophies BBS7 Melita Irving reviewed BBS7
Thoracic dystrophies BBS5 Melita Irving reviewed BBS5
Thoracic dystrophies BBS4 Melita Irving reviewed BBS4
Thoracic dystrophies BBS2 Melita Irving reviewed BBS2
Thoracic dystrophies BBS12 Melita Irving reviewed BBS12
Thoracic dystrophies BBS10 Melita Irving reviewed BBS10
Thoracic dystrophies BBS1 Melita Irving reviewed BBS1
Thoracic dystrophies B9D2 Melita Irving reviewed B9D2
Thoracic dystrophies B9D1 Melita Irving reviewed B9D1
Thoracic dystrophies ATXN10 Melita Irving reviewed ATXN10
Thoracic dystrophies ARL6 Melita Irving reviewed ARL6
Thoracic dystrophies ARL13B Melita Irving reviewed ARL13B
Thoracic dystrophies AIPL1 Melita Irving reviewed AIPL1
Thoracic dystrophies AHI1 Melita Irving reviewed AHI1
Thoracic dystrophies ADGRV1 Melita Irving reviewed ADGRV1
Thoracic dystrophies ACVR2B Melita Irving reviewed ACVR2B
Thoracic dystrophies IFT80 Melita Irving reviewed IFT80
Thoracic dystrophies IFT140 Melita Irving reviewed IFT140
Thoracic dystrophies C21orf2 Melita Irving reviewed C21orf2
Thoracic dystrophies NEK1 Melita Irving reviewed NEK1
Thoracic dystrophies DYNC2H1 Melita Irving reviewed DYNC2H1
Thoracic dystrophies EVC2 Melita Irving reviewed EVC2
Thoracic dystrophies EVC Melita Irving reviewed EVC
Thoracic dystrophies WDR34 Helen Brittain reviewed WDR34
Thoracic dystrophies IFT52 Helen Brittain reviewed IFT52
Thoracic dystrophies DDX59 Helen Brittain reviewed DDX59
Thoracic dystrophies OFD1 Helen Brittain marked OFD1 as ready
Thoracic dystrophies OFD1 Helen Brittain classified OFD1 as green
Thoracic dystrophies OFD1 Helen Brittain reviewed OFD1
Thoracic dystrophies KIF7 Helen Brittain marked KIF7 as ready
Thoracic dystrophies KIF7 Helen Brittain classified KIF7 as green
Thoracic dystrophies KIF7 Helen Brittain reviewed KIF7
Thoracic dystrophies KIAA0586 Helen Brittain marked KIAA0586 as ready
Thoracic dystrophies KIAA0586 Helen Brittain classified KIAA0586 as green
Thoracic dystrophies KIAA0586 Helen Brittain reviewed KIAA0586
Thoracic dystrophies IFT172 Helen Brittain marked IFT172 as ready
Thoracic dystrophies IFT172 Helen Brittain classified IFT172 as green
Thoracic dystrophies IFT172 Helen Brittain reviewed IFT172
Thoracic dystrophies HYLS1 Helen Brittain marked HYLS1 as ready
Thoracic dystrophies HYLS1 Helen Brittain classified HYLS1 as green
Thoracic dystrophies HYLS1 Helen Brittain reviewed HYLS1
Thoracic dystrophies DYNC2LI1 Helen Brittain marked DYNC2LI1 as ready
Thoracic dystrophies DYNC2LI1 Helen Brittain classified DYNC2LI1 as green
Thoracic dystrophies DYNC2LI1 Helen Brittain reviewed DYNC2LI1
Thoracic dystrophies C2CD3 Helen Brittain marked C2CD3 as ready
Thoracic dystrophies C2CD3 Helen Brittain classified C2CD3 as green
Thoracic dystrophies C2CD3 Helen Brittain reviewed C2CD3
Thoracic dystrophies IFT80 Ellen McDonagh marked IFT80 as ready
Thoracic dystrophies IFT80 Ellen McDonagh classified IFT80 as green
Thoracic dystrophies IFT80 Ellen McDonagh commented on IFT80
Thoracic dystrophies IFT140 Ellen McDonagh marked IFT140 as ready
Thoracic dystrophies IFT140 Ellen McDonagh classified IFT140 as green
Thoracic dystrophies IFT140 Ellen McDonagh commented on IFT140
Thoracic dystrophies WDR35 Hannah Mitchison reviewed WDR35
Thoracic dystrophies WDR19 Hannah Mitchison reviewed WDR19
Thoracic dystrophies TTC21B Hannah Mitchison reviewed TTC21B
Thoracic dystrophies ZNF423 Hannah Mitchison reviewed ZNF423
Thoracic dystrophies ZIC3 Hannah Mitchison reviewed ZIC3
Thoracic dystrophies XPNPEP3 Hannah Mitchison reviewed XPNPEP3
Thoracic dystrophies WDR60 Hannah Mitchison reviewed WDR60
Thoracic dystrophies WDR34 Hannah Mitchison reviewed WDR34
Thoracic dystrophies WDPCP Hannah Mitchison reviewed WDPCP
Thoracic dystrophies VHL Hannah Mitchison reviewed VHL
Thoracic dystrophies USH2A Hannah Mitchison reviewed USH2A
Thoracic dystrophies USH1G Hannah Mitchison reviewed USH1G
Thoracic dystrophies USH1C Hannah Mitchison reviewed USH1C
Thoracic dystrophies UMOD Hannah Mitchison reviewed UMOD
Thoracic dystrophies TULP1 Hannah Mitchison reviewed TULP1
Thoracic dystrophies TTC8 Hannah Mitchison reviewed TTC8
Thoracic dystrophies TSC2 Hannah Mitchison reviewed TSC2
Thoracic dystrophies TSC1 Hannah Mitchison reviewed TSC1
Thoracic dystrophies TRIM32 Hannah Mitchison reviewed TRIM32
Thoracic dystrophies TOPORS Hannah Mitchison reviewed TOPORS
Thoracic dystrophies TMEM67 Hannah Mitchison reviewed TMEM67
Thoracic dystrophies TMEM237 Hannah Mitchison reviewed TMEM237
Thoracic dystrophies TMEM231 Hannah Mitchison reviewed TMEM231
Thoracic dystrophies TMEM216 Hannah Mitchison reviewed TMEM216
Thoracic dystrophies TMEM138 Hannah Mitchison reviewed TMEM138
Thoracic dystrophies TMEM107 Hannah Mitchison reviewed TMEM107
Thoracic dystrophies TCTN2 Hannah Mitchison reviewed TCTN2
Thoracic dystrophies TCTN1 Hannah Mitchison reviewed TCTN1
Thoracic dystrophies TCTEX1D2 Hannah Mitchison reviewed TCTEX1D2
Thoracic dystrophies TBC1D32 Hannah Mitchison reviewed TBC1D32
Thoracic dystrophies SPATA7 Hannah Mitchison reviewed SPATA7
Thoracic dystrophies SDCCAG8 Hannah Mitchison reviewed SDCCAG8
Thoracic dystrophies SCNN1G Hannah Mitchison reviewed SCNN1G
Thoracic dystrophies SCNN1B Hannah Mitchison reviewed SCNN1B
Thoracic dystrophies SCNN1A Hannah Mitchison reviewed SCNN1A
Thoracic dystrophies SCLT1 Hannah Mitchison reviewed SCLT1
Thoracic dystrophies RSPH9 Hannah Mitchison reviewed RSPH9
Thoracic dystrophies RSPH4A Hannah Mitchison reviewed RSPH4A
Thoracic dystrophies RPGRIP1L Hannah Mitchison reviewed RPGRIP1L
Thoracic dystrophies RPGRIP1 Hannah Mitchison reviewed RPGRIP1
Thoracic dystrophies RPGR Hannah Mitchison reviewed RPGR
Thoracic dystrophies RPE65 Hannah Mitchison reviewed RPE65
Thoracic dystrophies RDH12 Hannah Mitchison reviewed RDH12
Thoracic dystrophies RD3 Hannah Mitchison reviewed RD3
Thoracic dystrophies PKHD1 Hannah Mitchison reviewed PKHD1
Thoracic dystrophies PKD2 Hannah Mitchison reviewed PKD2
Thoracic dystrophies PCDH15 Hannah Mitchison reviewed PCDH15
Thoracic dystrophies OFD1 Hannah Mitchison reviewed OFD1
Thoracic dystrophies NPHP4 Hannah Mitchison reviewed NPHP4
Thoracic dystrophies NPHP3 Hannah Mitchison reviewed NPHP3
Thoracic dystrophies NPHP1 Hannah Mitchison reviewed NPHP1
Thoracic dystrophies NODAL Hannah Mitchison reviewed NODAL
Thoracic dystrophies NME8 Hannah Mitchison reviewed NME8
Thoracic dystrophies NKX2-5 Hannah Mitchison reviewed NKX2-5
Thoracic dystrophies NEK8 Hannah Mitchison reviewed NEK8
Thoracic dystrophies MYO7A Hannah Mitchison reviewed MYO7A
Thoracic dystrophies MKS1 Hannah Mitchison reviewed MKS1
Thoracic dystrophies MKKS Hannah Mitchison reviewed MKKS
Thoracic dystrophies LRAT Hannah Mitchison reviewed LRAT
Thoracic dystrophies LEFTY2 Hannah Mitchison reviewed LEFTY2
Thoracic dystrophies LCA5 Hannah Mitchison reviewed LCA5
Thoracic dystrophies KIF7 Hannah Mitchison reviewed KIF7
Thoracic dystrophies KIAA0586 Hannah Mitchison reviewed KIAA0586
Thoracic dystrophies KCNJ13 Hannah Mitchison reviewed KCNJ13
Thoracic dystrophies IQCB1 Hannah Mitchison reviewed IQCB1
Thoracic dystrophies INVS Hannah Mitchison reviewed INVS
Thoracic dystrophies INTU Hannah Mitchison reviewed INTU
Thoracic dystrophies IMPDH1 Hannah Mitchison reviewed IMPDH1
Thoracic dystrophies IFT81 Hannah Mitchison reviewed IFT81
Thoracic dystrophies IFT52 Hannah Mitchison reviewed IFT52
Thoracic dystrophies IFT172 Hannah Mitchison reviewed IFT172
Thoracic dystrophies IFT140 Hannah Mitchison edited their review of IFT140
Thoracic dystrophies IFT122 Hannah Mitchison reviewed IFT122
Thoracic dystrophies IFT43 Hannah Mitchison reviewed IFT43
Thoracic dystrophies ICK Hannah Mitchison reviewed ICK
Thoracic dystrophies HYLS1 Hannah Mitchison reviewed HYLS1
Thoracic dystrophies GUCY2D Hannah Mitchison reviewed GUCY2D
Thoracic dystrophies GLIS2 Hannah Mitchison reviewed GLIS2
Thoracic dystrophies GDF1 Hannah Mitchison reviewed GDF1
Thoracic dystrophies FOXH1 Hannah Mitchison reviewed FOXH1
Thoracic dystrophies DYNC2LI1 Hannah Mitchison reviewed DYNC2LI1
Thoracic dystrophies DNAL1 Hannah Mitchison reviewed DNAL1
Thoracic dystrophies DNAI2 Hannah Mitchison reviewed DNAI2
Thoracic dystrophies DNAI1 Hannah Mitchison reviewed DNAI1
Thoracic dystrophies DNAH5 Hannah Mitchison reviewed DNAH5
Thoracic dystrophies DNAH11 Hannah Mitchison reviewed DNAH11
Thoracic dystrophies DNAAF3 Hannah Mitchison reviewed DNAAF3
Thoracic dystrophies DNAAF2 Hannah Mitchison reviewed DNAAF2
Thoracic dystrophies DNAAF1 Hannah Mitchison reviewed DNAAF1
Thoracic dystrophies DFNB31 Hannah Mitchison reviewed DFNB31
Thoracic dystrophies DDX59 Hannah Mitchison reviewed DDX59
Thoracic dystrophies CSPP1 Hannah Mitchison reviewed CSPP1
Thoracic dystrophies CRX Hannah Mitchison reviewed CRX
Thoracic dystrophies CRELD1 Hannah Mitchison reviewed CRELD1
Thoracic dystrophies CRB1 Hannah Mitchison reviewed CRB1
Thoracic dystrophies CLRN1 Hannah Mitchison reviewed CLRN1
Thoracic dystrophies CFTR Hannah Mitchison reviewed CFTR
Thoracic dystrophies CEP41 Hannah Mitchison reviewed CEP41
Thoracic dystrophies CEP290 Hannah Mitchison reviewed CEP290
Thoracic dystrophies CEP164 Hannah Mitchison reviewed CEP164
Thoracic dystrophies CEP120 Hannah Mitchison reviewed CEP120
Thoracic dystrophies CDH23 Hannah Mitchison reviewed CDH23
Thoracic dystrophies CCDC40 Hannah Mitchison reviewed CCDC40
Thoracic dystrophies CCDC39 Hannah Mitchison reviewed CCDC39
Thoracic dystrophies CCDC28B Hannah Mitchison reviewed CCDC28B
Thoracic dystrophies CC2D2A Hannah Mitchison reviewed CC2D2A
Thoracic dystrophies C5orf42 Hannah Mitchison reviewed C5orf42
Thoracic dystrophies C2CD3 Hannah Mitchison reviewed C2CD3
Thoracic dystrophies C2orf71 Hannah Mitchison reviewed C2orf71
Thoracic dystrophies BBS9 Hannah Mitchison reviewed BBS9
Thoracic dystrophies BBS7 Hannah Mitchison reviewed BBS7
Thoracic dystrophies BBS5 Hannah Mitchison reviewed BBS5
Thoracic dystrophies BBS4 Hannah Mitchison reviewed BBS4
Thoracic dystrophies BBS2 Hannah Mitchison reviewed BBS2
Thoracic dystrophies BBS12 Hannah Mitchison reviewed BBS12
Thoracic dystrophies BBS10 Hannah Mitchison reviewed BBS10
Thoracic dystrophies BBS1 Hannah Mitchison reviewed BBS1
Thoracic dystrophies B9D2 Hannah Mitchison reviewed B9D2
Thoracic dystrophies B9D1 Hannah Mitchison reviewed B9D1
Thoracic dystrophies ATXN10 Hannah Mitchison reviewed ATXN10
Thoracic dystrophies ARL6 Hannah Mitchison reviewed ARL6
Thoracic dystrophies ARL13B Hannah Mitchison reviewed ARL13B
Thoracic dystrophies AIPL1 Hannah Mitchison reviewed AIPL1
Thoracic dystrophies AHI1 Hannah Mitchison reviewed AHI1
Thoracic dystrophies ADGRV1 Hannah Mitchison reviewed ADGRV1
Thoracic dystrophies ACVR2B Hannah Mitchison reviewed ACVR2B
Thoracic dystrophies IFT80 Hannah Mitchison reviewed IFT80
Thoracic dystrophies IFT140 Hannah Mitchison reviewed IFT140
Thoracic dystrophies C21orf2 Hannah Mitchison reviewed C21orf2
Thoracic dystrophies WDR35IFT121 Hannah Mitchison reviewed WDR35IFT121*
Thoracic dystrophies WDR19IFT144 Hannah Mitchison reviewed WDR19IFT144*
Thoracic dystrophies TTC21BIFT139 Hannah Mitchison reviewed TTC21BIFT139*
Thoracic dystrophies NEK1 Hannah Mitchison reviewed NEK1
Thoracic dystrophies DYNC2H1 Hannah Mitchison reviewed DYNC2H1
Thoracic dystrophies EVC2 Hannah Mitchison reviewed EVC2
Thoracic dystrophies EVC Hannah Mitchison reviewed EVC
Thoracic dystrophies TCTEX1D2 Rebecca Foulger classified TCTEX1D2 as red
Thoracic dystrophies TCTEX1D2 Rebecca Foulger commented on TCTEX1D2
Thoracic dystrophies TCTEX1D2 Rebecca Foulger commented on TCTEX1D2
Thoracic dystrophies TCTEX1D2 Rebecca Foulger added TCTEX1D2 to panel
Thoracic dystrophies TCTEX1D2 Rebecca Foulger reviewed TCTEX1D2
Thoracic dystrophies DFNB31 Louise Daugherty commented on DFNB31
Thoracic dystrophies ATXN10 Ellen McDonagh commented on ATXN10