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Familial Hirschsprung Disease v1.10 EDNRB Arina Puzriakova Phenotypes for gene: EDNRB were changed from susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type); colonic aganglionosis; Shah-Waardenburg syndrome; long-segment Hirschsprung's disease; short-segment Hirschsprung's disease to Waardenburg syndrome, type 4A, OMIM:277580; {Hirschsprung disease, susceptibility to, 2}, OMIM:600155; ?ABCD syndrome, OMIM:600501; Colonic aganglionosis; Shah-Waardenburg syndrome; Long-segment Hirschsprung's disease; Short-segment Hirschsprung's disease
Familial Hirschsprung Disease v1.9 GFRA1 Achchuthan Shanmugasundram Deleted their review
Familial Hirschsprung Disease v1.9 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1: Added watchlist tag as panel 63 to be notified of additional cases.
Familial Hirschsprung Disease v1.9 GFRA1 Achchuthan Shanmugasundram reviewed gene: GFRA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28543993, 27370713, 9545641, 17507417, 12624147; Phenotypes: Susceptibility to Hirschsprung disease, MONDO:0100179; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Hirschsprung Disease v1.9 SMO Eleanor Williams changed review comment from: As reported by expert reviewer, PMID: 32413283 - Le et al 2020 , report biallelic variants in 7 individuals from 5 families that present with a wide spectrum of phenotypes in a condition that is distinct from Curry-Jones syndrome. However, the phenotype of only 1 proband included Hirschsprung disease.; to: As reported by expert reviewer, PMID: 32413283 - Le et al 2020 , report biallelic variants in 7 individuals from 5 families that present with a wide spectrum of phenotypes in a condition that is distinct from Curry-Jones syndrome. However, only 1 proband was reported as having Hirschsprung disease.
Familial Hirschsprung Disease v1.9 SMO Eleanor Williams Classified gene: SMO as Red List (low evidence)
Familial Hirschsprung Disease v1.9 SMO Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red. Although the expert reviewer recommends green, there is only one case in PMID: 32413283 where the patient is reported as having Hirschsprung disease.
Familial Hirschsprung Disease v1.9 SMO Eleanor Williams Gene: smo has been classified as Red List (Low Evidence).
Familial Hirschsprung Disease v1.8 SMO Eleanor Williams Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Hirschsprung disease MONDO:0018309 to postaxial polydactyly MONDO:0020927; Microcephaly HP:0000252; congenital heart disease MONDO:0005453; Hirschsprung disease MONDO:0018309
Familial Hirschsprung Disease v1.7 SMO Eleanor Williams Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Hirschsprung disease MONDO:0018309
Familial Hirschsprung Disease v1.6 SMO Eleanor Williams reviewed gene: SMO: Rating: RED; Mode of pathogenicity: None; Publications: 32413283; Phenotypes: Hirschsprung disease MONDO:0018309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial Hirschsprung Disease v1.6 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Familial Hirschsprung Disease. Sources: Expert list
Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMO were set to 32413283
Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis
Review for gene: SMO was set to GREEN
Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).
Sources: Expert list
Familial Hirschsprung Disease v1.6 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Familial Hirschsprung Disease v1.6 KIF1BP Louise Daugherty commented on gene: KIF1BP
Familial Hirschsprung Disease Rebecca Foulger promoted panel to version 1
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease PIGV Rebecca Foulger classified PIGV as red
Familial Hirschsprung Disease GFRA1 Rebecca Foulger classified GFRA1 as amber
Familial Hirschsprung Disease NRG1 Rebecca Foulger classified NRG1 as amber
Familial Hirschsprung Disease EDNRB Rebecca Foulger marked EDNRB as ready
Familial Hirschsprung Disease GDNF Rebecca Foulger marked GDNF as ready
Familial Hirschsprung Disease BACE2 Rebecca Foulger marked BACE2 as ready
Familial Hirschsprung Disease SEMA3A Rebecca Foulger marked SEMA3A as ready
Familial Hirschsprung Disease SEMA3A Rebecca Foulger classified SEMA3A as red
Familial Hirschsprung Disease SEMA3A Rebecca Foulger commented on SEMA3A
Familial Hirschsprung Disease SEMA3D Rebecca Foulger classified SEMA3D as amber
Familial Hirschsprung Disease SEMA3C Rebecca Foulger classified SEMA3C as amber
Familial Hirschsprung Disease SAMD9 Rebecca Foulger marked SAMD9 as ready
Familial Hirschsprung Disease SAMD9 Rebecca Foulger commented on SAMD9
Familial Hirschsprung Disease NKX2-1 Rebecca Foulger classified NKX2-1 as amber
Familial Hirschsprung Disease CELSR3 Rebecca Foulger classified CELSR3 as amber
Familial Hirschsprung Disease SAMD9 Helen Brittain reviewed SAMD9
Familial Hirschsprung Disease BACE2 Rebecca Foulger classified BACE2 as red
Familial Hirschsprung Disease BACE2 Rebecca Foulger commented on BACE2
Familial Hirschsprung Disease BACE2 Merce Garcia-Barcelo reviewed BACE2
Familial Hirschsprung Disease VCL Rebecca Foulger commented on VCL
Familial Hirschsprung Disease VCL Rebecca Foulger classified VCL as amber
Familial Hirschsprung Disease TCF4 Rebecca Foulger marked TCF4 as ready
Familial Hirschsprung Disease TCF4 Rebecca Foulger classified TCF4 as red
Familial Hirschsprung Disease TCF4 Rebecca Foulger commented on TCF4
Familial Hirschsprung Disease SEMA3C Rebecca Foulger commented on SEMA3C
Familial Hirschsprung Disease SEMA3D Rebecca Foulger commented on SEMA3D
Familial Hirschsprung Disease RMRP Rebecca Foulger marked RMRP as ready
Familial Hirschsprung Disease RMRP Rebecca Foulger classified RMRP as red
Familial Hirschsprung Disease PSPN Rebecca Foulger marked PSPN as ready
Familial Hirschsprung Disease PSPN Rebecca Foulger classified PSPN as red
Familial Hirschsprung Disease PSPN Rebecca Foulger commented on PSPN
Familial Hirschsprung Disease NTRK3 Rebecca Foulger marked NTRK3 as ready
Familial Hirschsprung Disease NTRK3 Rebecca Foulger classified NTRK3 as red
Familial Hirschsprung Disease NRTN Rebecca Foulger marked NRTN as ready
Familial Hirschsprung Disease NRTN Rebecca Foulger classified NRTN as red
Familial Hirschsprung Disease NRG3 Rebecca Foulger classified NRG3 as amber
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease MAPK10 Rebecca Foulger marked MAPK10 as ready
Familial Hirschsprung Disease MAPK10 Rebecca Foulger classified MAPK10 as red
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease DHCR7 Rebecca Foulger commented on DHCR7
Familial Hirschsprung Disease DHCR7 Rebecca Foulger classified DHCR7 as amber
Familial Hirschsprung Disease DHCR7 Rebecca Foulger commented on DHCR7
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger edited their review of NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Merce Garcia-Barcelo reviewed NRG1
Familial Hirschsprung Disease WNT3A Rebecca Foulger marked WNT3A as ready
Familial Hirschsprung Disease VAMP5 Rebecca Foulger marked VAMP5 as ready
Familial Hirschsprung Disease TUBA1A Rebecca Foulger marked TUBA1A as ready
Familial Hirschsprung Disease TBATA Rebecca Foulger commented on TBATA
Familial Hirschsprung Disease TBATA Rebecca Foulger classified TBATA as amber
Familial Hirschsprung Disease SOX2 Rebecca Foulger marked SOX2 as ready
Familial Hirschsprung Disease SLC6A20 Rebecca Foulger marked SLC6A20 as ready
Familial Hirschsprung Disease RORA Rebecca Foulger marked RORA as ready
Familial Hirschsprung Disease RELN Rebecca Foulger marked RELN as ready
Familial Hirschsprung Disease PTCH1 Rebecca Foulger marked PTCH1 as ready
Familial Hirschsprung Disease PIGV Rebecca Foulger commented on PIGV
Familial Hirschsprung Disease NCLN Rebecca Foulger commented on NCLN
Familial Hirschsprung Disease ECE1 Rebecca Foulger commented on ECE1
Familial Hirschsprung Disease DENND3 Rebecca Foulger commented on DENND3
Familial Hirschsprung Disease NUP98 Rebecca Foulger commented on NUP98
Familial Hirschsprung Disease NUP98 Rebecca Foulger classified NUP98 as amber
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Familial Hirschsprung Disease PSPN Rebecca Foulger commented on PSPN
Familial Hirschsprung Disease EDN3 Rebecca Foulger commented on EDN3
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Familial Hirschsprung Disease NRSN1 Rebecca Foulger marked NRSN1 as ready
Familial Hirschsprung Disease NCLN Rebecca Foulger classified NCLN as amber
Familial Hirschsprung Disease NCLN Rebecca Foulger classified NCLN as red
Familial Hirschsprung Disease MIR369 Rebecca Foulger marked MIR369 as ready
Familial Hirschsprung Disease MIR146A Rebecca Foulger marked MIR146A as ready
Familial Hirschsprung Disease MED12 Rebecca Foulger marked MED12 as ready
Familial Hirschsprung Disease MBTPS2 Rebecca Foulger marked MBTPS2 as ready
Familial Hirschsprung Disease INMT Rebecca Foulger marked INMT as ready
Familial Hirschsprung Disease IL11 Rebecca Foulger marked IL11 as ready
Familial Hirschsprung Disease IKBKAP Rebecca Foulger marked IKBKAP as ready
Familial Hirschsprung Disease GHRL Rebecca Foulger marked GHRL as ready
Familial Hirschsprung Disease GAP43 Rebecca Foulger marked GAP43 as ready
Familial Hirschsprung Disease GAL Rebecca Foulger marked GAL as ready
Familial Hirschsprung Disease GABRG2 Rebecca Foulger marked GABRG2 as ready
Familial Hirschsprung Disease FZD3 Rebecca Foulger marked FZD3 as ready
Familial Hirschsprung Disease ECE1 Rebecca Foulger classified ECE1 as amber
Familial Hirschsprung Disease DSCAM Rebecca Foulger marked DSCAM as ready
Familial Hirschsprung Disease DNMT3B Rebecca Foulger marked DNMT3B as ready
Familial Hirschsprung Disease DLL3 Rebecca Foulger marked DLL3 as ready
Familial Hirschsprung Disease DLL3 Rebecca Foulger commented on DLL3
Familial Hirschsprung Disease DENND3 Rebecca Foulger classified DENND3 as amber
Familial Hirschsprung Disease CREBBP Rebecca Foulger marked CREBBP as ready
Familial Hirschsprung Disease COMT Rebecca Foulger marked COMT as ready
Familial Hirschsprung Disease ARVCF Rebecca Foulger marked ARVCF as ready
Familial Hirschsprung Disease ARID1B Rebecca Foulger marked ARID1B as ready
Familial Hirschsprung Disease ABCC9 Rebecca Foulger marked ABCC9 as ready
Familial Hirschsprung Disease SOX10 Rebecca Foulger marked SOX10 as ready
Familial Hirschsprung Disease SOX10 Rebecca Foulger classified SOX10 as green
Familial Hirschsprung Disease L1CAM Rebecca Foulger marked L1CAM as ready
Familial Hirschsprung Disease L1CAM Rebecca Foulger classified L1CAM as green
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger marked KIAA1279 as ready
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger classified KIAA1279 as green
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger classified EDNRB as green
Familial Hirschsprung Disease EDN3 Rebecca Foulger marked EDN3 as ready
Familial Hirschsprung Disease EDN3 Rebecca Foulger classified EDN3 as green
Familial Hirschsprung Disease NKX2-1 Erwin Brosens reviewed NKX2-1
Familial Hirschsprung Disease MIR369 Erwin Brosens reviewed MIR369
Familial Hirschsprung Disease MIR146A Erwin Brosens reviewed MIR146A
Familial Hirschsprung Disease MED12 Erwin Brosens reviewed MED12
Familial Hirschsprung Disease WNT3A Erwin Brosens reviewed WNT3A
Familial Hirschsprung Disease VAMP5 Erwin Brosens reviewed VAMP5
Familial Hirschsprung Disease TUBA1A Erwin Brosens reviewed TUBA1A
Familial Hirschsprung Disease TCF4 Erwin Brosens reviewed TCF4
Familial Hirschsprung Disease SOX2 Erwin Brosens reviewed SOX2
Familial Hirschsprung Disease NRSN1 Erwin Brosens reviewed NRSN1
Familial Hirschsprung Disease MBTPS2 Erwin Brosens reviewed MBTPS2
Familial Hirschsprung Disease SLC6A20 Erwin Brosens reviewed SLC6A20
Familial Hirschsprung Disease SAMD9 Erwin Brosens reviewed SAMD9
Familial Hirschsprung Disease RORA Erwin Brosens reviewed RORA
Familial Hirschsprung Disease RMRP Erwin Brosens reviewed RMRP
Familial Hirschsprung Disease RELN Erwin Brosens reviewed RELN
Familial Hirschsprung Disease MAPK10 Erwin Brosens reviewed MAPK10
Familial Hirschsprung Disease INMT Erwin Brosens reviewed INMT
Familial Hirschsprung Disease PTCH1 Erwin Brosens reviewed PTCH1
Familial Hirschsprung Disease IL11 Erwin Brosens reviewed IL11
Familial Hirschsprung Disease IKBKAP Erwin Brosens reviewed IKBKAP
Familial Hirschsprung Disease NTRK3 Erwin Brosens reviewed NTRK3
Familial Hirschsprung Disease GHRL Erwin Brosens reviewed GHRL
Familial Hirschsprung Disease GAP43 Erwin Brosens reviewed GAP43
Familial Hirschsprung Disease PIGV Erwin Brosens reviewed PIGV
Familial Hirschsprung Disease GAL Erwin Brosens reviewed GAL
Familial Hirschsprung Disease GABRG2 Erwin Brosens reviewed GABRG2
Familial Hirschsprung Disease FZD3 Erwin Brosens reviewed FZD3
Familial Hirschsprung Disease DSCAM Erwin Brosens reviewed DSCAM
Familial Hirschsprung Disease DNMT3B Erwin Brosens reviewed DNMT3B
Familial Hirschsprung Disease DLL3 Erwin Brosens reviewed DLL3
Familial Hirschsprung Disease DHCR7 Erwin Brosens reviewed DHCR7
Familial Hirschsprung Disease CREBBP Erwin Brosens reviewed CREBBP
Familial Hirschsprung Disease COMT Erwin Brosens reviewed COMT
Familial Hirschsprung Disease CELSR3 Erwin Brosens reviewed CELSR3
Familial Hirschsprung Disease ARVCF Erwin Brosens reviewed ARVCF
Familial Hirschsprung Disease ARID1B Erwin Brosens reviewed ARID1B
Familial Hirschsprung Disease ABCC9 Erwin Brosens reviewed ABCC9
Familial Hirschsprung Disease TBATA Erwin Brosens reviewed TBATA
Familial Hirschsprung Disease DENND3 Erwin Brosens reviewed DENND3
Familial Hirschsprung Disease NCLN Erwin Brosens reviewed NCLN
Familial Hirschsprung Disease NUP98 Erwin Brosens reviewed NUP98
Familial Hirschsprung Disease NRG3 Erwin Brosens reviewed NRG3
Familial Hirschsprung Disease PSPN Erwin Brosens reviewed PSPN
Familial Hirschsprung Disease NRTN Erwin Brosens reviewed NRTN
Familial Hirschsprung Disease NRG1 Erwin Brosens reviewed NRG1
Familial Hirschsprung Disease SEMA3A Erwin Brosens edited their review of SEMA3A
Familial Hirschsprung Disease SEMA3C Erwin Brosens edited their review of SEMA3C
Familial Hirschsprung Disease SEMA3D Erwin Brosens edited their review of SEMA3D
Familial Hirschsprung Disease VCL Erwin Brosens reviewed VCL
Familial Hirschsprung Disease ECE1 Erwin Brosens edited their review of ECE1
Familial Hirschsprung Disease ZEB2 Erwin Brosens edited their review of ZEB2
Familial Hirschsprung Disease SEMA3D Erwin Brosens reviewed SEMA3D
Familial Hirschsprung Disease SEMA3C Erwin Brosens reviewed SEMA3C
Familial Hirschsprung Disease SEMA3A Erwin Brosens reviewed SEMA3A
Familial Hirschsprung Disease GFRA1 Erwin Brosens reviewed GFRA1
Familial Hirschsprung Disease ECE1 Erwin Brosens reviewed ECE1
Familial Hirschsprung Disease SOX10 Erwin Brosens reviewed SOX10
Familial Hirschsprung Disease L1CAM Erwin Brosens reviewed L1CAM
Familial Hirschsprung Disease GDNF Erwin Brosens edited their review of GDNF
Familial Hirschsprung Disease EDNRB Erwin Brosens edited their review of EDNRB
Familial Hirschsprung Disease EDN3 Erwin Brosens edited their review of EDN3
Familial Hirschsprung Disease RET Erwin Brosens edited their review of RET
Familial Hirschsprung Disease PHOX2B Erwin Brosens edited their review of PHOX2B
Familial Hirschsprung Disease KIAA1279 Erwin Brosens reviewed KIAA1279
Familial Hirschsprung Disease GDNF Erwin Brosens reviewed GDNF
Familial Hirschsprung Disease EDNRB Erwin Brosens reviewed EDNRB
Familial Hirschsprung Disease EDN3 Erwin Brosens reviewed EDN3
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease ECE1 Rebecca Foulger commented on ECE1
Familial Hirschsprung Disease VCL Rebecca Foulger commented on VCL
Familial Hirschsprung Disease L1CAM Rebecca Foulger classified L1CAM as amber
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease L1CAM Rebecca Foulger commented on L1CAM
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger classified KIAA1279 as amber
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger commented on KIAA1279
Familial Hirschsprung Disease ZEB2 Rebecca Foulger marked ZEB2 as ready
Familial Hirschsprung Disease ZEB2 Rebecca Foulger classified ZEB2 as green
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Familial Hirschsprung Disease PHOX2B Rebecca Foulger marked PHOX2B as ready
Familial Hirschsprung Disease PHOX2B Rebecca Foulger classified PHOX2B as green
Familial Hirschsprung Disease PHOX2B Rebecca Foulger classified PHOX2B as green
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Familial Hirschsprung Disease RET Rebecca Foulger marked RET as ready
Familial Hirschsprung Disease ZEB2 Erwin Brosens reviewed ZEB2
Familial Hirschsprung Disease RET Erwin Brosens reviewed RET
Familial Hirschsprung Disease PHOX2B Erwin Brosens edited their review of PHOX2B
Familial Hirschsprung Disease PHOX2B Erwin Brosens reviewed PHOX2B
Familial Hirschsprung Disease NRTN Rebecca Foulger reviewed NRTN
Familial Hirschsprung Disease NKX2-1 Rebecca Foulger added NKX2-1 to panel
Familial Hirschsprung Disease NKX2-1 Rebecca Foulger reviewed NKX2-1
Familial Hirschsprung Disease DHCR7 Rebecca Foulger added DHCR7 to panel
Familial Hirschsprung Disease DHCR7 Rebecca Foulger reviewed DHCR7
Familial Hirschsprung Disease RMRP Rebecca Foulger added RMRP to panel
Familial Hirschsprung Disease RMRP Rebecca Foulger reviewed RMRP
Familial Hirschsprung Disease PIGV Rebecca Foulger added PIGV to panel
Familial Hirschsprung Disease PIGV Rebecca Foulger reviewed PIGV
Familial Hirschsprung Disease DNMT3B Rebecca Foulger commented on DNMT3B
Familial Hirschsprung Disease DNMT3B Rebecca Foulger added DNMT3B to panel
Familial Hirschsprung Disease DNMT3B Rebecca Foulger reviewed DNMT3B
Familial Hirschsprung Disease MBTPS2 Rebecca Foulger added MBTPS2 to panel
Familial Hirschsprung Disease MBTPS2 Rebecca Foulger reviewed MBTPS2
Familial Hirschsprung Disease WNT3A Rebecca Foulger commented on WNT3A
Familial Hirschsprung Disease VAMP5 Rebecca Foulger commented on VAMP5
Familial Hirschsprung Disease TUBA1A Rebecca Foulger commented on TUBA1A
Familial Hirschsprung Disease SLC6A20 Rebecca Foulger commented on SLC6A20
Familial Hirschsprung Disease RORA Rebecca Foulger commented on RORA
Familial Hirschsprung Disease RELN Rebecca Foulger commented on RELN
Familial Hirschsprung Disease PTCH1 Rebecca Foulger commented on PTCH1
Familial Hirschsprung Disease RET Rebecca Foulger commented on RET
Familial Hirschsprung Disease NTRK3 Rebecca Foulger commented on NTRK3
Familial Hirschsprung Disease NTRK3 Rebecca Foulger commented on NTRK3
Familial Hirschsprung Disease NRSN1 Rebecca Foulger commented on NRSN1
Familial Hirschsprung Disease MIR369 Rebecca Foulger commented on MIR369
Familial Hirschsprung Disease MIR146A Rebecca Foulger commented on MIR146A
Familial Hirschsprung Disease MED12 Rebecca Foulger commented on MED12
Familial Hirschsprung Disease SOX2 Rebecca Foulger commented on SOX2
Familial Hirschsprung Disease MAPK10 Rebecca Foulger commented on MAPK10
Familial Hirschsprung Disease MAPK10 Rebecca Foulger commented on MAPK10
Familial Hirschsprung Disease MAPK10 Rebecca Foulger commented on MAPK10
Familial Hirschsprung Disease INMT Rebecca Foulger commented on INMT
Familial Hirschsprung Disease IL11 Rebecca Foulger commented on IL11
Familial Hirschsprung Disease IKBKAP Rebecca Foulger commented on IKBKAP
Familial Hirschsprung Disease GHRL Rebecca Foulger commented on GHRL
Familial Hirschsprung Disease GAP43 Rebecca Foulger commented on GAP43
Familial Hirschsprung Disease GAL Rebecca Foulger commented on GAL
Familial Hirschsprung Disease GABRG2 Rebecca Foulger commented on GABRG2
Familial Hirschsprung Disease IKBKAP Rebecca Foulger commented on IKBKAP
Familial Hirschsprung Disease FZD3 Rebecca Foulger commented on FZD3
Familial Hirschsprung Disease DSCAM Rebecca Foulger commented on DSCAM
Familial Hirschsprung Disease CREBBP Rebecca Foulger commented on CREBBP
Familial Hirschsprung Disease COMT Rebecca Foulger commented on COMT
Familial Hirschsprung Disease CELSR3 Rebecca Foulger commented on CELSR3
Familial Hirschsprung Disease ARVCF Rebecca Foulger commented on ARVCF
Familial Hirschsprung Disease ARID1B Rebecca Foulger commented on ARID1B
Familial Hirschsprung Disease ABCC9 Rebecca Foulger commented on ABCC9
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Familial Hirschsprung Disease RET Rebecca Foulger commented on RET
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease ECE1 Rebecca Foulger commented on ECE1
Familial Hirschsprung Disease EDN3 Rebecca Foulger commented on EDN3
Familial Hirschsprung Disease NUP98 Rebecca Foulger commented on NUP98
Familial Hirschsprung Disease TBATA Rebecca Foulger commented on TBATA
Familial Hirschsprung Disease NCLN Rebecca Foulger commented on NCLN
Familial Hirschsprung Disease NCLN Rebecca Foulger commented on NCLN
Familial Hirschsprung Disease DENND3 Rebecca Foulger commented on DENND3
Familial Hirschsprung Disease RET Rebecca Foulger commented on RET
Familial Hirschsprung Disease RET Rebecca Foulger commented on RET
Familial Hirschsprung Disease SOX10 Rebecca Foulger commented on SOX10
Familial Hirschsprung Disease SOX10 Rebecca Foulger commented on SOX10
Familial Hirschsprung Disease SOX10 Rebecca Foulger commented on SOX10
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Familial Hirschsprung Disease SAMD9 Helen Brittain added SAMD9 to panel
Familial Hirschsprung Disease SAMD9 Helen Brittain reviewed SAMD9
Familial Hirschsprung Disease ZEB2 Sumita Chhabra reviewed ZEB2
Familial Hirschsprung Disease VCL Sumita Chhabra commented on VCL
Familial Hirschsprung Disease TBATA Sumita Chhabra commented on TBATA
Familial Hirschsprung Disease SOX10 Sumita Chhabra reviewed SOX10
Familial Hirschsprung Disease SEMA3D Sumita Chhabra commented on SEMA3D
Familial Hirschsprung Disease SEMA3C Sumita Chhabra commented on SEMA3C
Familial Hirschsprung Disease SEMA3A Sumita Chhabra commented on SEMA3A
Familial Hirschsprung Disease RET Sumita Chhabra reviewed RET
Familial Hirschsprung Disease PHOX2B Sumita Chhabra reviewed PHOX2B
Familial Hirschsprung Disease NUP98 Sumita Chhabra commented on NUP98
Familial Hirschsprung Disease NRG1 Sumita Chhabra reviewed NRG1
Familial Hirschsprung Disease NCLN Sumita Chhabra commented on NCLN
Familial Hirschsprung Disease KIAA1279 Sumita Chhabra reviewed KIAA1279
Familial Hirschsprung Disease GFRA1 Sumita Chhabra reviewed GFRA1
Familial Hirschsprung Disease GDNF Sumita Chhabra reviewed GDNF
Familial Hirschsprung Disease EDNRB Sumita Chhabra reviewed EDNRB
Familial Hirschsprung Disease EDN3 Sumita Chhabra reviewed EDN3
Familial Hirschsprung Disease ECE1 Sumita Chhabra reviewed ECE1
Familial Hirschsprung Disease DENND3 Sumita Chhabra commented on DENND3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger commented on KIAA1279
Familial Hirschsprung Disease Ellen McDonagh approved panel