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Ductal plate malformation v1.28 | DYNC2H1 | Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly (613091) to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.27 | SLC12A3 |
Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3. |
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Ductal plate malformation v1.27 | SLC12A3 | Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (263800) to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.26 | SLC12A3 |
Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3. Tag monogenic - polygenic tag was added to gene: SLC12A3. |
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Ductal plate malformation v1.26 | SLC12A3 | Sarah Leigh Publications for gene: SLC12A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.25 | SLC12A3 | Sarah Leigh commented on gene: SLC12A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.25 | SLC12A3 | Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.25 | CLCNKB | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.25 | CLCNKB | Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.24 | CLCNKB | Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.24 | CLCNKB | Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.23 | CLCNKB | Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090) to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.22 | TULP3 | Achchuthan Shanmugasundram Classified gene: TULP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.22 | TULP3 | Achchuthan Shanmugasundram Gene: tulp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.21 | TULP3 | Achchuthan Shanmugasundram Publications for gene: TULP3 were set to 36460032; 36276950; 35397207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.20 | TULP3 | Achchuthan Shanmugasundram Phenotypes for gene: TULP3 were changed from cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy to Hepatorenocardiac degenerative fibrosis, OMIM:619902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.19 | TULP3 | Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35397207, 36276950, 36460032; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.19 | TULP3 |
John Sayer gene: TULP3 was added gene: TULP3 was added to Ductal plate malformation. Sources: Expert list Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 36460032; 36276950; 35397207 Phenotypes for gene: TULP3 were set to cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to GREEN Added comment: Congenital hepatic fibrosis and ductal plate malformation is a common phenotype See OMIM 604730 Sources: Expert list |
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Ductal plate malformation v1.19 | CPT2 | Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836) to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.18 | JAG1 | Arina Puzriakova Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 (118450) to Alagille syndrome 1, OMIM:118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.17 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553) to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | WDR35 | Arina Puzriakova Tag curated_removed tag was added to gene: WDR35. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | WDR34 | Arina Puzriakova Tag curated_removed tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | WDPCP | Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TXNDC15 | Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TTC8 | Arina Puzriakova Tag curated_removed tag was added to gene: TTC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TTC21B | Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TMEM237 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TMEM231 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TMEM216 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TMEM138 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TMEM107 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM107. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TCTN3 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TCTN2 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TCTN1 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | TCTEX1D2 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | SDCCAG8 | Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | OFD1 | Arina Puzriakova Tag curated_removed tag was added to gene: OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | NPHP4 | Arina Puzriakova Tag curated_removed tag was added to gene: NPHP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | NPHP3 | Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | NPHP1 | Arina Puzriakova Tag curated_removed tag was added to gene: NPHP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | NEK8 | Arina Puzriakova Tag curated_removed tag was added to gene: NEK8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | NEK1 | Arina Puzriakova Tag curated_removed tag was added to gene: NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | MKS1 | Arina Puzriakova Tag curated_removed tag was added to gene: MKS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | MKKS | Arina Puzriakova Tag curated_removed tag was added to gene: MKKS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | MAPKBP1 | Arina Puzriakova Tag curated_removed tag was added to gene: MAPKBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | KIF7 | Arina Puzriakova Tag curated_removed tag was added to gene: KIF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | KIAA0586 | Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IQCB1 | Arina Puzriakova Tag curated_removed tag was added to gene: IQCB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | INVS | Arina Puzriakova Tag curated_removed tag was added to gene: INVS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | INPP5E | Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT80 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT80. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT52 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT172 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT140 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT122 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT122. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | HYLS1 | Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | HNF1B | Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | EVC2 | Arina Puzriakova Tag curated_removed tag was added to gene: EVC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | EVC | Arina Puzriakova Tag curated_removed tag was added to gene: EVC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | DYNC2LI1 | Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | DYNC2H1 | Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | DDX59 | Arina Puzriakova Tag curated_removed tag was added to gene: DDX59. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CSPP1 | Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP83 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP83. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP41 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP290 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP290. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP164 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP164. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP120 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP120. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CEP104 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP104. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | C5orf42 | Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | C2CD3 | Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS9 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS7 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS5 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS4 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS2 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS12 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS10 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | BBS1 | Arina Puzriakova Tag curated_removed tag was added to gene: BBS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | B9D2 | Arina Puzriakova Tag curated_removed tag was added to gene: B9D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | ARL6 | Arina Puzriakova Tag curated_removed tag was added to gene: ARL6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | ARL13B | Arina Puzriakova Tag curated_removed tag was added to gene: ARL13B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | ANKS6 | Arina Puzriakova Tag curated_removed tag was added to gene: ANKS6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | ALMS1 | Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | AHI1 | Arina Puzriakova Tag curated_removed tag was added to gene: AHI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CCDC114 | Catherine Snow Tag new-gene-name tag was added to gene: CCDC114. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | CCDC114 | Catherine Snow commented on gene: CCDC114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | LRRC6 | Catherine Snow Tag new-gene-name tag was added to gene: LRRC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | LRRC6 | Catherine Snow commented on gene: LRRC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.16 | IFT52 | Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly (617102) to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.15 | TCTEX1D2 | Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly (617405) to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.14 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12 (616258) to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.13 | B9D1 | Arina Puzriakova Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.12 | B9D2 | Arina Puzriakova Phenotypes for gene: B9D2 were changed from Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175) to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.11 | NOP10 | Arina Puzriakova Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1 (224230) to Dyskeratosis congenita, autosomal recessive 1, 224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.10 | WDR34 | Catherine Snow commented on gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.10 | WDR34 | Catherine Snow Tag new-gene-name tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.9 | TERT |
Ivone Leong Source NHS GMS was added to TERT. Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807 |
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Ductal plate malformation v1.9 | TERC |
Ivone Leong Source NHS GMS was added to TERC. Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970 |
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Ductal plate malformation v1.9 | STN1 |
Ivone Leong Source NHS GMS was added to STN1. Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1 |
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Ductal plate malformation v1.9 | SEC61B | Ivone Leong Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.9 | RTEL1 |
Ivone Leong Source NHS GMS was added to RTEL1. Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1 |
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Ductal plate malformation v1.9 | B9D1 |
Ivone Leong Source NHS GMS was added to B9D1. Added phenotypes ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) for gene: B9D1 Publications for gene B9D1 were changed from 21493627; 21763481 to 21763481; 21493627 |
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Ductal plate malformation v1.9 | SEC63 | Ivone Leong Added phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) for gene: SEC63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.9 | PRKCSH |
Ivone Leong Added phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) for gene: PRKCSH Publications for gene PRKCSH were changed from 12529853; 12577059; 11047756; 29038287 to 11047756; 29038287; 12529853; 12577059 |
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Ductal plate malformation v1.9 | PKHD1 |
Ivone Leong Added phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) for gene: PKHD1 Publications for gene PKHD1 were changed from 28862642; 11337358; 11135065; 11919560; 30211211 to 11135065; 30211211; 11919560; 28862642; 11337358 |
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Ductal plate malformation v1.9 | PKD2 | Ivone Leong Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.9 | PKD1 |
Ivone Leong Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1 Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343 |
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Ductal plate malformation v1.9 | LRP5 | Ivone Leong Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.9 | GANAB |
Ivone Leong Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642 |
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Ductal plate malformation v1.9 | ALG8 |
Ivone Leong Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8 Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028 |
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Ductal plate malformation v1.8 | DNAJB11 | Ivone Leong Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease (618061) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.7 |
Ivone Leong Panel name changed from Polycystic liver disease to Ductal plate malformation List of related panels changed from Ductal plate malformation (DPM) to Ductal plate malformation (DPM); Polycystic liver disease Panel types changed to Rare Disease 100K |
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Ductal plate malformation v1.6 | DNAJB11 | Ivone Leong Classified gene: DNAJB11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.6 | DNAJB11 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.6 | DNAJB11 | Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.5 | DNAJB11 | Ivone Leong Mode of inheritance for gene: DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.4 | DNAJB11 | Ivone Leong Publications for gene: DNAJB11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | PKD2 | Ivone Leong edited their review of gene: PKD2: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | PKD1 | Ivone Leong commented on gene: PKD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | DNAJB11 | Ivone Leong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | SEC61B | Ivone Leong edited their review of gene: SEC61B: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC61B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | ALG8 | Ivone Leong commented on gene: ALG8: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | PKHD1 | Ivone Leong commented on gene: PKHD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKHD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | GANAB | Ivone Leong commented on gene: GANAB: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GANAB; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | LRP5 | Ivone Leong commented on gene: LRP5: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: LRP5; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | SEC63 | Ivone Leong edited their review of gene: SEC63: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC63; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.3 | PRKCSH | Ivone Leong edited their review of gene: PRKCSH: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PRKCSH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | PKD2 | Ivone Leong Source NHS GMS was added to PKD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | PKD1 | Ivone Leong Source NHS GMS was added to PKD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | DNAJB11 |
Ivone Leong gene: DNAJB11 was added gene: DNAJB11 was added to Polycystic liver disease. Sources: NHS GMS Mode of inheritance for gene: DNAJB11 was set to |
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Ductal plate malformation v1.2 | SEC61B | Ivone Leong Source NHS GMS was added to SEC61B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | ALG8 | Ivone Leong Source NHS GMS was added to ALG8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | PKHD1 | Ivone Leong Source NHS GMS was added to PKHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | GANAB | Ivone Leong Source NHS GMS was added to GANAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | LRP5 | Ivone Leong Source NHS GMS was added to LRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | SEC63 | Ivone Leong Source NHS GMS was added to SEC63. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.2 | PRKCSH | Ivone Leong Source NHS GMS was added to PRKCSH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | PKD2 | Ivone Leong commented on gene: PKD2: There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | PKD1 | Ivone Leong commented on gene: PKD1: There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | B9D1 | Ivone Leong Tag watchlist tag was added to gene: B9D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | KCNN3 | Ivone Leong Tag watchlist tag was added to gene: KCNN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | OFD1 | Ivone Leong commented on gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | NPHP3 | Ivone Leong commented on gene: NPHP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | ALG8 | Ivone Leong Added comment: Comment on mode of inheritance: Changed to monoallelic as variants in ALG8 that cause polycystic liver disease have an autosomal dominant mode of inheritance. Variants in ALG8 has a recessive mode of inheritance when involved with Congenital disorder of glycosylation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.73 | ALG8 | Ivone Leong Mode of inheritance for gene: ALG8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Marked gene: KCNN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Classified gene: KCNN3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Added comment: Comment on list classification: Demoted from green to red. KCNN3 does not have an OMIM ID and has no associated phenotypes on Gene2Phenotype. There is only one paper (PMID: 26658685) describing one family with four affected individuals presenting with idiopathic non-cirrhotic portal hypertension who have a missense variant in KCNN3. There are no other reports or reported variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.71 | KCNN3 | Ivone Leong All sources for gene: KCNN3 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.70 | KCNN3 | Ivone Leong Added comment: Comment on mode of inheritance: The publication (PMID: 26658685) describes it as an autosomal dominant variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.70 | KCNN3 | Ivone Leong Mode of inheritance for gene: KCNN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.69 | KCNN3 | Ivone Leong Phenotypes for gene: KCNN3 were changed from portal hypertension; varices; splenomegaly to No OMIM number; portal hypertension; varices; splenomegaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.68 | KCNN3 | Ivone Leong Publications for gene: KCNN3 were set to 26658685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.67 | KCNN3 | Ivone Leong Publications for gene: KCNN3 were set to PMID: 26658685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.66 | PEX1 | Ivone Leong Marked gene: PEX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.66 | PEX1 | Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.66 | PEX1 | Ivone Leong Classified gene: PEX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.66 | PEX1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.66 | PEX1 | Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.65 | NOTCH2 | Ivone Leong Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.65 | NOTCH2 | Ivone Leong Gene: notch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.65 | NOTCH2 | Ivone Leong Classified gene: NOTCH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.65 | NOTCH2 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.65 | NOTCH2 | Ivone Leong Gene: notch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.64 | JAG1 | Ivone Leong Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.64 | JAG1 | Ivone Leong Gene: jag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.64 | JAG1 | Ivone Leong Classified gene: JAG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.64 | JAG1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.64 | JAG1 | Ivone Leong Gene: jag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | NOTCH2 | Anna de Burca reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | JAG1 | Anna de Burca reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | PEX1 | Anna de Burca reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Marked gene: TERT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to suggest TERT causes ductal plate malformation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.63 | TERT | Ivone Leong Publications for gene: TERT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.62 | TERC | Ivone Leong Marked gene: TERC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.62 | TERC | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support promoting TERC to a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.62 | TERC | Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.62 | TERC | Ivone Leong Publications for gene: TERC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.61 | STN1 | Ivone Leong Marked gene: STN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.61 | STN1 | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support the promotion of STN1 to a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.61 | STN1 | Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.61 | STN1 | Ivone Leong Publications for gene: STN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.60 | PEX1 | Ivone Leong Publications for gene: PEX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Marked gene: RTEL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to promote RTEL1 to a green gene for the ductal plate malformation panel. Therefore, keeping it as amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.59 | RTEL1 | Ivone Leong Publications for gene: RTEL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.58 | SEC61B | Ivone Leong Marked gene: SEC61B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.58 | SEC61B | Ivone Leong Added comment: Comment when marking as ready: There is currently not enough evidence to promote SEC61B to a green gene; therefore, have applied the 'Watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.58 | SEC61B | Ivone Leong Gene: sec61b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.58 | SEC61B | Ivone Leong Mode of inheritance for gene: SEC61B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.57 | SEC61B | Ivone Leong Publications for gene: SEC61B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | RPGRIP1L | Ivone Leong Marked gene: RPGRIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | RPGRIP1L | Ivone Leong Added comment: Comment when marking as ready: RPGRIP1L is a causative gene of Meckel syndrome and different variants have been reported in this gene associated with this syndrome in 3+ unrelated patients (PMID:17558409, 19574260). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | RPGRIP1L | Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Added comment: Comment when marking as ready: CC2D2A causes congenital hepatic fibrosis, which is a phenotype of Ductal plate malformation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Added comment: Comment on publications: There are 3 unrelated cases of patients with Meckel syndrome who have variants in the CC2D2A gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.56 | CC2D2A | Ivone Leong Publications for gene: CC2D2A were set to 18513680; 19574260; 22246503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Added comment: Comment when marking as ready: TMEM67 is a disease causing gene of Meckel syndrome and causes congenital hepatic malformations and fibrosis, which is a phenotype of ductal plate malformation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Added comment: Comment on publications: There are >3 reported cases of variants in TMEM67 causing congenital hepatic malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.55 | TMEM67 | Ivone Leong Publications for gene: TMEM67 were set to 19058225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | SEC63 | Ivone Leong Marked gene: SEC63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | SEC63 | Ivone Leong Gene: sec63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Marked gene: PRKCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Added comment: Comment when marking as ready: PRKCSH is confirmed as the causative gene for polycystic liver disease 1 on OMIM and listed as a causative gene in GeneReviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Added comment: Comment on publications: Four studies reporting on 6 different patients who have polycystic liver disease with different variants in PRKCSH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Publications for gene: PRKCSH were set to 12529853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Marked gene: B9D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to promote B9D1 to a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Classified gene: B9D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Added comment: Comment on list classification: Demoted from green to amber after taking into consideration the red review by Bill Griffiths (Cambridge University Hospitals) and other sources of evidence. There is not enough evidence from patient data and B9D1 is a red gene on the Rare cilipathy panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.53 | B9D1 | Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.52 | B9D1 | Ivone Leong Publications for gene: B9D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.51 | DGUOK | Ivone Leong Marked gene: DGUOK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.51 | DGUOK | Ivone Leong Added comment: Comment when marking as ready: DGUOK is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.51 | DGUOK | Ivone Leong Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.51 | DGUOK | Ivone Leong Added comment: Comment on publications: Added another publication (PMID:26874653) provided by Bill Griffiths (Cambridge University Hospitals). The paper reported on 2 families with 3 individuals who have the same variant in the DGUOK gene. The affected patients had protal hypertension without advanced fibrosis/cirrhosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.51 | DGUOK | Ivone Leong Publications for gene: DGUOK were set to 30234759; 17073823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.50 | CC2D2A | Ivone Leong Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.50 | CC2D2A | Ivone Leong Added comment: Comment when marking as ready: CC2D2A is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.50 | CC2D2A | Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.50 | CC2D2A | Ivone Leong Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360) to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360); congenital hepatic fibrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Added comment: Comment when marking as ready: TMEM67 is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.49 | TMEM67 | Ivone Leong Phenotypes for gene: TMEM67 were changed from Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360) to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360); congenital hepatic fibrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.48 | TMEM67 | Ivone Leong Publications for gene: TMEM67 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.47 | SEC63 | Ivone Leong Marked gene: SEC63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.47 | SEC63 | Ivone Leong Added comment: Comment when marking as ready: SEC63 is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.47 | SEC63 | Ivone Leong Gene: sec63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.47 | SEC63 | Ivone Leong Publications for gene: SEC63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.46 | SEC63 | Ivone Leong Mode of inheritance for gene: SEC63 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.45 | PRKCSH | Ivone Leong Marked gene: PRKCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.45 | PRKCSH | Ivone Leong Added comment: Comment when marking as ready: PRKCSH is confirmed as the causative gene for polycystic liver disease 1 on OMIM and listed as a causative gene in GeneReviews. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.45 | PRKCSH | Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.45 | PRKCSH | Ivone Leong Publications for gene: PRKCSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.44 | PRKCSH | Ivone Leong Mode of inheritance for gene: PRKCSH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Marked gene: PKHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Added comment: Comment when marking as ready: PKHD1 is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Added comment: Comment on mode of inheritance: Changed from Biallelic to Both monoallelic and biallelic as a paper provided by Bill Griffiths (Cambridge University Hospitals) reported 2 probands who have Ductal plate malformation with different heterozygous variants (1 a small deletion and another a missense variant) in the PKHD1 gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.42 | PKHD1 | Ivone Leong Publications for gene: PKHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.41 | PKD2 | Ivone Leong Marked gene: PKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.41 | PKD2 | Ivone Leong Added comment: Comment when marking as ready: PKD2 is on the Eligibility statement | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.41 | PKD2 | Ivone Leong Gene: pkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.41 | PKD2 | Ivone Leong Publications for gene: PKD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.40 | PKD1 | Ivone Leong Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.40 | PKD1 | Ivone Leong Added comment: Comment when marking as ready: PKD1 is on the Eligibility statement | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.40 | PKD1 | Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.40 | PKD1 | Ivone Leong Publications for gene: PKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.39 | LRP5 | Ivone Leong Marked gene: LRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.39 | LRP5 | Ivone Leong Added comment: Comment when marking as ready: LRP5 is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.39 | LRP5 | Ivone Leong Gene: lrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.39 | LRP5 | Ivone Leong Publications for gene: LRP5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | GANAB | Ivone Leong Marked gene: GANAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | GANAB | Ivone Leong Added comment: Comment when marking as ready: GANAB is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | GANAB | Ivone Leong Gene: ganab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | ALG8 | Ivone Leong Marked gene: ALG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | ALG8 | Ivone Leong Added comment: Comment when marking as ready: ALG is a disease causing gene of DPM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | ALG8 | Ivone Leong Gene: alg8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.38 | GANAB | Ivone Leong Publications for gene: GANAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.37 | GANAB | Ivone Leong Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.36 | ALG8 | Ivone Leong Publications for gene: ALG8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PKD1 | Bill Griffiths edited their review of gene: PKD1: Changed publications: PMID: 3178424 PMID: 9211343; Changed phenotypes: Polycystic liver, polycystic kidney, Caroli's disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | OFD1 | Bill Griffiths reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20818665; Phenotypes: biliary dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | B9D1 | Bill Griffiths reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21763481; Phenotypes: Ductal plate malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | RPGRIP1L | Bill Griffiths reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19574260; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | NPHP3 | Bill Griffiths edited their review of gene: NPHP3: Changed publications: PMID: 12872122, PMID: 20007846, PMID 21845392; Changed phenotypes: Congenital hepatic fibrosis, Caroli's disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PKHD1 | Bill Griffiths edited their review of gene: PKHD1: Changed publications: PMID: 11919560 PMID: 30211211; Changed phenotypes: Polycystic kidney, liver cysts, congenital hepatic fibrosis, Caroli's disease, biliary dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | NPHP3 | Bill Griffiths reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12872122, PMID: 20007846; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | CC2D2A | Bill Griffiths reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19574260; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | DGUOK | Bill Griffiths edited their review of gene: DGUOK: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | KCNN3 | Bill Griffiths edited their review of gene: KCNN3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | TMEM67 | Bill Griffiths reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19058225; Phenotypes: congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | KCNN3 |
Bill Griffiths gene: KCNN3 was added gene: KCNN3 was added to Polycystic liver disease. Sources: Literature Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to PMID: 26658685 Phenotypes for gene: KCNN3 were set to portal hypertension; varices; splenomegaly Penetrance for gene: KCNN3 were set to unknown Review for gene: KCNN3 was set to GREEN Added comment: Sources: Literature |
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Ductal plate malformation v0.35 | DGUOK | Bill Griffiths reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26874653; Phenotypes: portal hypertension, varices, splenomegaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | SEC63 | Bill Griffiths reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15133510; Phenotypes: Polycystic liver; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PRKCSH | Bill Griffiths reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12529853; Phenotypes: Polycystic liver, kidney cysts, pancreatic cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PKHD1 | Bill Griffiths reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11919560; Phenotypes: Polycystic kidney, liver cysts, congenital hepatic fibrosis, Caroli's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PKD2 | Bill Griffiths reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29321346; Phenotypes: Polycystic kidney disease, liver cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | PKD1 | Bill Griffiths reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 3178424; Phenotypes: Polycystic liver, polycystic kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | LRP5 | Bill Griffiths reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24706814; Phenotypes: Polycystic liver, renal cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | GANAB | Bill Griffiths reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29243290, PMID: 27259053; Phenotypes: Polycystic liver, polycystic kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | ALG8 | Bill Griffiths reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28375157; Phenotypes: Polycystic liver disease, renal cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 |
Ellen McDonagh Panel name changed from Ductal plate malformation (DPM) to Polycystic liver disease List of related panels changed from to Ductal plate malformation (DPM) Panel types changed to Rare Disease 100K; GMS Rare Disease |
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Ductal plate malformation v0.34 | DGUOK | Ivone Leong Publications for gene: DGUOK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.33 | DGUOK | Ivone Leong Classified gene: DGUOK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.33 | DGUOK |
Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. DGUOK is a green gene on the 'Undiagnosed metabolic disorders' and 'Mitochondrial disorders' panels. Dr Bill Griffiths (Addenbrooke's Hospital, Cambridge, UK) suggested: DGUOK based on OMIM 617068 and the description and reference within that entry. In one study (30234759) showed 2 unrelated families with 3 affected members (all by consanguineous parents) have portal hypertension. The DGUOK variant is a missense mutation. No functional studies were performed. In a second study (17073823) a proband showed liver fibrosis and compound missense mutations in DGUOK (one of which was the same missense mutation found in 30234759). In vitro studies were performed using fibroblasts taken from patient, which showed that the variant caused reduced enzyme activity. |
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Ductal plate malformation v0.33 | DGUOK | Ivone Leong Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.32 | RPGRIP1L | Ivone Leong Publications for gene: RPGRIP1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.31 | RPGRIP1L | Ivone Leong Classified gene: RPGRIP1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.31 | RPGRIP1L | Ivone Leong Added comment: Comment on list classification: RPGRIP1L is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes both Meckel syndrome (611561) and COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.31 | RPGRIP1L | Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.30 | CC2D2A | Ivone Leong Publications for gene: CC2D2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.29 | CC2D2A | Ivone Leong Classified gene: CC2D2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.29 | CC2D2A | Ivone Leong Added comment: Comment on list classification: CC2D2A is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.29 | CC2D2A | Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.28 | TMEM67 | Ivone Leong commented on gene: TMEM67: TMEM67 also causes COACH syndrome (609884), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.28 | Ivone Leong Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | PKD1 |
Ivone Leong Source Expert Review Green was added to PKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Ductal plate malformation v0.27 | STN1 |
Ivone Leong Source Expert Review Amber was added to STN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | PEX14 | Ivone Leong Source Expert Review Red was added to PEX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | PEX1 |
Ivone Leong Source Expert Review Amber was added to PEX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | NOTCH2 |
Ivone Leong Source Expert Review Amber was added to NOTCH2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | JAG1 | Ivone Leong Source Expert Review Amber was added to JAG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | HOGA1 |
Ivone Leong Source Expert Review Red was added to HOGA1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | GRHPR |
Ivone Leong Source Expert Review Red was added to GRHPR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | EYA1 |
Ivone Leong Source Expert Review Red was added to EYA1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | CPT2 |
Ivone Leong Source Expert Review Red was added to CPT2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | CLDN19 |
Ivone Leong Source Expert Review Red was added to CLDN19. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | CLDN16 |
Ivone Leong Source Expert Review Red was added to CLDN16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | BSND |
Ivone Leong Source Expert Review Red was added to BSND. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | BICC1 | Ivone Leong Source Expert Review Red was added to BICC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | TERC |
Ivone Leong Source Expert Review Amber was added to TERC. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | RTEL1 |
Ivone Leong Source Expert Review Amber was added to RTEL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | WRAP53 |
Ivone Leong Source Expert Review Red was added to WRAP53. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | TERT |
Ivone Leong Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | NOP10 |
Ivone Leong Source Expert Review Red was added to NOP10. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | TINF2 |
Ivone Leong Source Expert Review Red was added to TINF2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DKC1 |
Ivone Leong Source Expert Review Red was added to DKC1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DGUOK |
Ivone Leong Source Expert Review Amber was added to DGUOK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | TMEM67 | Ivone Leong Source Expert Review Green was added to TMEM67. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | SEC61B |
Ivone Leong Source Expert Review Amber was added to SEC61B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Ductal plate malformation v0.27 | RSPH9 |
Ivone Leong Source Expert Review Red was added to RSPH9. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | RSPH4A |
Ivone Leong Source Expert Review Red was added to RSPH4A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | REN |
Ivone Leong Source Expert Review Red was added to REN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | PKHD1 | Ivone Leong Source Expert Review Green was added to PKHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | NME8 |
Ivone Leong Source Expert Review Red was added to NME8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | LRP5 |
Ivone Leong Source Expert Review Green was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Ductal plate malformation v0.27 | GANAB |
Ivone Leong Source Expert Review Green was added to GANAB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Ductal plate malformation v0.27 | DNAL1 |
Ivone Leong Source Expert Review Red was added to DNAL1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAI2 |
Ivone Leong Source Expert Review Red was added to DNAI2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAI1 |
Ivone Leong Source Expert Review Red was added to DNAI1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAH5 |
Ivone Leong Source Expert Review Red was added to DNAH5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAH11 |
Ivone Leong Source Expert Review Red was added to DNAH11. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAAF3 |
Ivone Leong Source Expert Review Red was added to DNAAF3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAAF2 |
Ivone Leong Source Expert Review Red was added to DNAAF2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | DNAAF1 |
Ivone Leong Source Expert Review Red was added to DNAAF1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | CCDC40 |
Ivone Leong Source Expert Review Red was added to CCDC40. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | CCDC39 |
Ivone Leong Source Expert Review Red was added to CCDC39. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Ductal plate malformation v0.27 | B9D1 | Ivone Leong Source Expert Review Green was added to B9D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.27 | ALG8 |
Ivone Leong Source Expert Review Green was added to ALG8. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Ductal plate malformation v0.27 | AGT |
Ivone Leong Source Expert Review Red was added to AGT. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Ductal plate malformation v0.26 | PKD1 | Ivone Leong reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554072; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | STN1 | Ivone Leong reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | PEX14 | Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: 15146459; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | PEX1 | Ivone Leong reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12032265; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | NOTCH2 | Ivone Leong reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | JAG1 | Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | HOGA1 | Ivone Leong reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | GRHPR | Ivone Leong reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | EYA1 | Ivone Leong reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CPT2 | Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CLDN19 | Ivone Leong reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CLDN16 | Ivone Leong reviewed gene: CLDN16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | BSND | Ivone Leong reviewed gene: BSND: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | BICC1 | Ivone Leong reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: 21922595; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | TERC | Ivone Leong reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341970, 21436073, 19936245; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | RTEL1 | Ivone Leong reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28495916; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | WRAP53 | Ivone Leong reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | TERT | Ivone Leong reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: 19936245, 21483807, 21436073; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | NOP10 | Ivone Leong reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | TINF2 | Ivone Leong reviewed gene: TINF2: Rating: RED; Mode of pathogenicity: ; Publications: 21477109; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DGUOK | Ivone Leong reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30234759, 11687800, 12210798, 25129007 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | TMEM67 | Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | SEC61B | Ivone Leong reviewed gene: SEC61B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28862642; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | RSPH9 | Ivone Leong reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | RSPH4A | Ivone Leong reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | REN | Ivone Leong reviewed gene: REN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | PKHD1 | Ivone Leong reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 11337358, 11135065; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | NME8 | Ivone Leong reviewed gene: NME8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | LRP5 | Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25920554; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | GANAB | Ivone Leong reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 27259053, 29243290 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAL1 | Ivone Leong reviewed gene: DNAL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAI2 | Ivone Leong reviewed gene: DNAI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAI1 | Ivone Leong reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAH5 | Ivone Leong reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAH11 | Ivone Leong reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAAF3 | Ivone Leong reviewed gene: DNAAF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAAF2 | Ivone Leong reviewed gene: DNAAF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | DNAAF1 | Ivone Leong reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CCDC40 | Ivone Leong reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | CCDC39 | Ivone Leong reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | B9D1 | Ivone Leong reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21493627, 21763481; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | ALG8 | Ivone Leong reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 15235028, 28375157 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.26 | AGT | Ivone Leong reviewed gene: AGT: Rating: RED; Mode of pathogenicity: ; Publications: 16116425, 17036344; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.25 | FANCD2 |
Ivone Leong gene: FANCD2 was added gene: FANCD2 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2 (227646) |
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Ductal plate malformation v0.25 | STN1 |
Ivone Leong gene: STN1 was added gene: STN1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) |
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Ductal plate malformation v0.25 | SLC4A1 |
Ivone Leong gene: SLC4A1 was added gene: SLC4A1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR (611590); Renal tubular acidosis, distal, AD (179800) |
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Ductal plate malformation v0.25 | SLC41A1 |
Ivone Leong gene: SLC41A1 was added gene: SLC41A1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: SLC41A1 was set to Unknown Phenotypes for gene: SLC41A1 were set to No OMIM |
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Ductal plate malformation v0.25 | SLC12A3 |
Ivone Leong gene: SLC12A3 was added gene: SLC12A3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (263800) |
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Ductal plate malformation v0.25 | SIX5 |
Ivone Leong gene: SIX5 was added gene: SIX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2 (610896) |
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Ductal plate malformation v0.25 | PKD1L1 |
Ivone Leong gene: PKD1L1 was added gene: PKD1L1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal (617205) |
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Ductal plate malformation v0.25 | PEX7 |
Ivone Leong gene: PEX7 was added gene: PEX7 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B (614879) |
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Ductal plate malformation v0.25 | PEX6 |
Ivone Leong gene: PEX6 was added gene: PEX6 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (614862); Peroxisome biogenesis disorder 4B (614863) |
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Ductal plate malformation v0.25 | PEX5 |
Ivone Leong gene: PEX5 was added gene: PEX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B (202370); Peroxisome biogenesis disorder 2A (Zellweger) (214110) |
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Ductal plate malformation v0.25 | PEX3 |
Ivone Leong gene: PEX3 was added gene: PEX3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to ?Peroxisome biogenesis disorder 10B (617370); Peroxisome biogenesis disorder 10A (Zellweger) (614882) |
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Ductal plate malformation v0.25 | PEX26 |
Ivone Leong gene: PEX26 was added gene: PEX26 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) (614872); Peroxisome biogenesis disorder 7B (614873) |
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Ductal plate malformation v0.25 | PEX2 |
Ivone Leong gene: PEX2 was added gene: PEX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) (614866); Peroxisome biogenesis disorder 5B (614867) |
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Ductal plate malformation v0.25 | PEX19 |
Ivone Leong gene: PEX19 was added gene: PEX19 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) (614886) |
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Ductal plate malformation v0.25 | PEX16 |
Ivone Leong gene: PEX16 was added gene: PEX16 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) (614876); Peroxisome biogenesis disorder 8B (614877) |
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Ductal plate malformation v0.25 | PEX14 |
Ivone Leong gene: PEX14 was added gene: PEX14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) (614887) |
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Ductal plate malformation v0.25 | PEX13 |
Ivone Leong gene: PEX13 was added gene: PEX13 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B (614885); Peroxisome biogenesis disorder 11A (Zellweger) (614883) |
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Ductal plate malformation v0.25 | PEX12 |
Ivone Leong gene: PEX12 was added gene: PEX12 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B (266510); Peroxisome biogenesis disorder 3A (Zellweger) (614859) |
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Ductal plate malformation v0.25 | PEX11B |
Ivone Leong gene: PEX11B was added gene: PEX11B was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (614920) |
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Ductal plate malformation v0.25 | PEX10 |
Ivone Leong gene: PEX10 was added gene: PEX10 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (614870); Peroxisome biogenesis disorder 6B (614871) |
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Ductal plate malformation v0.25 | PEX1 |
Ivone Leong gene: PEX1 was added gene: PEX1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD) (601539); Peroxisome biogenesis disorder 1A (Zellweger) (214100) |
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Ductal plate malformation v0.25 | PAX2 |
Ivone Leong gene: PAX2 was added gene: PAX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7 (616002); Papillorenal syndrome (120330) |
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Ductal plate malformation v0.25 | NOTCH2 |
Ivone Leong gene: NOTCH2 was added gene: NOTCH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 (610205) |
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Ductal plate malformation v0.25 | MRE11 |
Ivone Leong gene: MRE11 was added gene: MRE11 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder 1 (604391) |
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Ductal plate malformation v0.25 | JAG1 |
Ivone Leong gene: JAG1 was added gene: JAG1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to Alagille syndrome 1 (118450) |
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Ductal plate malformation v0.25 | HOGA1 |
Ivone Leong gene: HOGA1 was added gene: HOGA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (613616) |
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Ductal plate malformation v0.25 | GRHPR |
Ivone Leong gene: GRHPR was added gene: GRHPR was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (260000) |
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Ductal plate malformation v0.25 | EYA1 |
Ivone Leong gene: EYA1 was added gene: EYA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1 (602588); Branchiootorenal syndrome 1, with or without cataracts (113650) |
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Ductal plate malformation v0.25 | CPT2 |
Ivone Leong gene: CPT2 was added gene: CPT2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836) |
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Ductal plate malformation v0.25 | CLDN19 |
Ivone Leong gene: CLDN19 was added gene: CLDN19 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement (248190) |
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Ductal plate malformation v0.25 | CLDN16 |
Ivone Leong gene: CLDN16 was added gene: CLDN16 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN16 were set to Hypomagnesemia 3, renal (248250) |
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Ductal plate malformation v0.25 | CLCNKB |
Ivone Leong gene: CLCNKB was added gene: CLCNKB was added to Ductal plate malformation (DPM). Sources: Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLCNKB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090) |
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Ductal plate malformation v0.25 | CCND1 |
Ivone Leong gene: CCND1 was added gene: CCND1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: CCND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCND1 were set to {von Hippel-Lindau syndrome, modifier of} (193300); {Colorectal cancer, susceptibility to} (114500) |
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Ductal plate malformation v0.25 | BSND |
Ivone Leong gene: BSND was added gene: BSND was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome, type 4a (602522); Sensorineural deafness with mild renal dysfunction (602522) |
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Ductal plate malformation v0.25 | BICC1 |
Ivone Leong gene: BICC1 was added gene: BICC1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: BICC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to} (601331) |
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Ductal plate malformation v0.24 | TXNDC15 |
Ivone Leong Source Expert Review Removed was added to TXNDC15. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TMEM107 |
Ivone Leong Source Expert Review Removed was added to TMEM107. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TCTEX1D2 |
Ivone Leong Source Expert Review Removed was added to TCTEX1D2. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | MAPKBP1 |
Ivone Leong Source Expert Review Removed was added to MAPKBP1. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | KIAA0586 |
Ivone Leong Source Expert Review Removed was added to KIAA0586. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IFT52 |
Ivone Leong Source Expert Review Removed was added to IFT52. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | DYNC2LI1 |
Ivone Leong Source Expert Review Removed was added to DYNC2LI1. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | DDX59 |
Ivone Leong Source Expert Review Removed was added to DDX59. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CSPP1 |
Ivone Leong Source Expert Review Removed was added to CSPP1. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | ALMS1 |
Ivone Leong Source Expert Review Removed was added to ALMS1. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | WDR34 |
Ivone Leong Source Expert Review Removed was added to WDR34. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TMEM231 |
Ivone Leong Source Expert Review Removed was added to TMEM231. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | INVS |
Ivone Leong Source Expert Review Removed was added to INVS. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IFT172 |
Ivone Leong Source Expert Review Removed was added to IFT172. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IFT140 |
Ivone Leong Source Expert Review Removed was added to IFT140. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IFT122 |
Ivone Leong Source Expert Review Removed was added to IFT122. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | HYLS1 |
Ivone Leong Source Expert Review Removed was added to HYLS1. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | EVC2 |
Ivone Leong Source Expert Review Removed was added to EVC2. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | EVC |
Ivone Leong Source Expert Review Removed was added to EVC. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP83 |
Ivone Leong Source Expert Review Removed was added to CEP83. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP120 |
Ivone Leong Source Expert Review Removed was added to CEP120. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | C2CD3 |
Ivone Leong Source Expert Review Removed was added to C2CD3. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | ANKS6 |
Ivone Leong Source Expert Review Removed was added to ANKS6. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TTC21B |
Ivone Leong Source Expert Review Removed was added to TTC21B. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TMEM237 |
Ivone Leong Source Expert Review Removed was added to TMEM237. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TCTN3 |
Ivone Leong Source Expert Review Removed was added to TCTN3. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | OFD1 |
Ivone Leong Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | KIF7 |
Ivone Leong Source Expert Review Removed was added to KIF7. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IQCB1 |
Ivone Leong Source Expert Review Removed was added to IQCB1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | INPP5E |
Ivone Leong Source Expert Review Removed was added to INPP5E. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | IFT80 |
Ivone Leong Source Expert Review Removed was added to IFT80. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP164 |
Ivone Leong Source Expert Review Removed was added to CEP164. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS5 |
Ivone Leong Source Expert Review Removed was added to BBS5. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | ARL13B |
Ivone Leong Source Expert Review Removed was added to ARL13B. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | WDR35 |
Ivone Leong Source Expert Review Removed was added to WDR35. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | WDPCP |
Ivone Leong Source Expert Review Removed was added to WDPCP. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TTC8 |
Ivone Leong Source Expert Review Removed was added to TTC8. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TMEM216 |
Ivone Leong Source Expert Review Removed was added to TMEM216. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TMEM138 |
Ivone Leong Source Expert Review Removed was added to TMEM138. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TCTN2 |
Ivone Leong Source Expert Review Removed was added to TCTN2. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | TCTN1 |
Ivone Leong Source Expert Review Removed was added to TCTN1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | SDCCAG8 |
Ivone Leong Source Expert Review Removed was added to SDCCAG8. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | RPGRIP1L |
Ivone Leong Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | NPHP4 |
Ivone Leong Source Expert Review Removed was added to NPHP4. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | NPHP3 |
Ivone Leong Source Expert Review Removed was added to NPHP3. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | NPHP1 |
Ivone Leong Source Expert Review Removed was added to NPHP1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | NEK8 |
Ivone Leong Source Expert Review Removed was added to NEK8. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | NEK1 |
Ivone Leong Source Expert Review Removed was added to NEK1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | MKS1 |
Ivone Leong Source Expert Review Removed was added to MKS1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | MKKS |
Ivone Leong Source Expert Review Removed was added to MKKS. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | HNF1B |
Ivone Leong Source Expert Review Removed was added to HNF1B. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | DYNC2H1 |
Ivone Leong Source Expert Review Removed was added to DYNC2H1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP41 |
Ivone Leong Source Expert Review Removed was added to CEP41. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP104 |
Ivone Leong Source Expert Review Removed was added to CEP104. Rating Changed from Red List (low evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CEP290 |
Ivone Leong Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | CC2D2A |
Ivone Leong Source Expert Review Removed was added to CC2D2A. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | C5orf42 |
Ivone Leong Source Expert Review Removed was added to C5orf42. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS9 |
Ivone Leong Source Expert Review Removed was added to BBS9. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS7 |
Ivone Leong Source Expert Review Removed was added to BBS7. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS4 |
Ivone Leong Source Expert Review Removed was added to BBS4. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS2 |
Ivone Leong Source Expert Review Removed was added to BBS2. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS12 |
Ivone Leong Source Expert Review Removed was added to BBS12. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS10 |
Ivone Leong Source Expert Review Removed was added to BBS10. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | BBS1 |
Ivone Leong Source Expert Review Removed was added to BBS1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | B9D2 |
Ivone Leong Source Expert Review Removed was added to B9D2. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | ARL6 |
Ivone Leong Source Expert Review Removed was added to ARL6. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.24 | AHI1 |
Ivone Leong Source Expert Review Removed was added to AHI1. Rating Changed from Green List (high evidence) to No List (delete) |
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Ductal plate malformation v0.23 | Ivone Leong Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.22 | RSPH9 | Ivone Leong Mode of inheritance for gene RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.21 | RSPH4A |
Ivone Leong Source Expert list was added to RSPH4A. Mode of inheritance for gene RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal |
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Ductal plate malformation v0.20 | SEC61B | Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) to Association with polycystic liver disease 1 with or without renal cysts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.19 | ALG8 |
Ivone Leong Mode of inheritance for gene ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874) to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) |
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Ductal plate malformation v0.18 | CCDC40 | Ivone Leong Mode of inheritance for gene CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.17 | CCDC39 | Ivone Leong Mode of inheritance for gene CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.16 | ARL6 | Ivone Leong Marked gene: ARL6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.16 | ARL6 | Ivone Leong Gene: arl6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.16 | Ivone Leong List of related panels changed from to | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.15 | RSPH9 |
Ivone Leong Source Emory Genetics Laboratory was added to RSPH9. Source UKGTN was added to RSPH9. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Ductal plate malformation v0.14 | RSPH9 | Ivone Leong All sources for gene: RSPH9 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.13 | RSPH4A |
Ivone Leong Source Emory Genetics Laboratory was added to RSPH4A. Source UKGTN was added to RSPH4A. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Ductal plate malformation v0.12 | RSPH4A | Ivone Leong All sources for gene: RSPH4A were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.11 | IFT140 |
Ivone Leong Source Illumina TruGenome Clinical Sequencing Services was added to IFT140. Source UKGTN was added to IFT140. Source Expert list was added to IFT140. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Ductal plate malformation v0.10 | NME8 |
Ivone Leong Source Emory Genetics Laboratory was added to NME8. Source UKGTN was added to NME8. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Ductal plate malformation v0.9 | NME8 | Ivone Leong All sources for gene: NME8 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.8 | IFT140 | Ivone Leong All sources for gene: IFT140 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.7 | CEP83 |
Ivone Leong Source Radboud University Medical Center, Nijmegen was added to CEP83. Source UKGTN was added to CEP83. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Ductal plate malformation v0.6 | CEP83 | Ivone Leong All sources for gene: CEP83 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.5 | IFT80 |
Ivone Leong Source Radboud University Medical Center, Nijmegen was added to IFT80. Source Emory Genetics Laboratory was added to IFT80. Source UKGTN was added to IFT80. Source Expert list was added to IFT80. Rating Changed from No List (delete) to Green List (high evidence) |
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Ductal plate malformation v0.4 | IFT80 | Ivone Leong All sources for gene: IFT80 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.3 | C5orf42 | Ivone Leong commented on gene: C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.3 | C5orf42 | Ivone Leong Tag new-gene-name tag was added to C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.2 | TXNDC15 |
Ivone Leong gene: TXNDC15 was added gene: TXNDC15 was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNDC15 were set to Meckel syndrome |
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Ductal plate malformation v0.2 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550) |
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Ductal plate malformation v0.2 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) |
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Ductal plate malformation v0.2 | NLRP1 |
Ivone Leong gene: NLRP1 was added gene: NLRP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis (617388) |
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Ductal plate malformation v0.2 | NXPH2 |
Ivone Leong gene: NXPH2 was added gene: NXPH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NXPH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXPH2 were set to Nephronophthisis 2, infantile (602088) |
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Ductal plate malformation v0.2 | ACD |
Ivone Leong gene: ACD was added gene: ACD was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACD were set to ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553) |
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Ductal plate malformation v0.2 | LRRC6 |
Ivone Leong gene: LRRC6 was added gene: LRRC6 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19 (614935) |
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Ductal plate malformation v0.2 | HYDIN |
Ivone Leong gene: HYDIN was added gene: HYDIN was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5 (608647) |
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Ductal plate malformation v0.2 | DNAAF5 |
Ivone Leong gene: DNAAF5 was added gene: DNAAF5 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18 (614874) |
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Ductal plate malformation v0.2 | CCDC114 |
Ivone Leong gene: CCDC114 was added gene: CCDC114 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20 (615067) |
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Ductal plate malformation v0.2 | CCDC103 |
Ivone Leong gene: CCDC103 was added gene: CCDC103 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17 (614679) |
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Ductal plate malformation v0.2 | WRAP53 |
Ivone Leong gene: WRAP53 was added gene: WRAP53 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3 (613988) |
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Ductal plate malformation v0.2 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989) |
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Ductal plate malformation v0.2 | NOP10 |
Ivone Leong gene: NOP10 was added gene: NOP10 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 (224230) |
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Ductal plate malformation v0.2 | NHP2 |
Ivone Leong gene: NHP2 was added gene: NHP2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 (613987) |
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Ductal plate malformation v0.2 | CTC1 |
Ivone Leong gene: CTC1 was added gene: CTC1 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts (612199) |
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Ductal plate malformation v0.2 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (613990) |
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Ductal plate malformation v0.2 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked (305000) |
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Ductal plate malformation v0.2 | DGUOK |
Ivone Leong gene: DGUOK was added gene: DGUOK was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068) |
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Ductal plate malformation v0.2 | WDR35 |
Ivone Leong gene: WDR35 was added gene: WDR35 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 (613610); Short-rib thoracic dysplasia 7 with or without polydactyly (614091) |
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Ductal plate malformation v0.2 | WDR34 |
Ivone Leong gene: WDR34 was added gene: WDR34 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly (615633) |
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Ductal plate malformation v0.2 | WDPCP |
Ivone Leong gene: WDPCP was added gene: WDPCP was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15 (615992) |
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Ductal plate malformation v0.2 | TTC8 |
Ivone Leong gene: TTC8 was added gene: TTC8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 (615985) |
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Ductal plate malformation v0.2 | TTC21B |
Ivone Leong gene: TTC21B was added gene: TTC21B was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Nephronophthisis 12 (613820) |
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Ductal plate malformation v0.2 | TMEM67 |
Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360) |
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Ductal plate malformation v0.2 | TMEM237 |
Ivone Leong gene: TMEM237 was added gene: TMEM237 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM237 were set to Joubert syndrome 14 (614424) |
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Ductal plate malformation v0.2 | TMEM231 |
Ivone Leong gene: TMEM231 was added gene: TMEM231 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 (614970); Meckel syndrome 11 (615397) |
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Ductal plate malformation v0.2 | TMEM216 |
Ivone Leong gene: TMEM216 was added gene: TMEM216 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Joubert syndrome 2 (608091); Meckel syndrome 2 (603194) |
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Ductal plate malformation v0.2 | TMEM138 |
Ivone Leong gene: TMEM138 was added gene: TMEM138 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 (614465) |
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Ductal plate malformation v0.2 | TMEM107 |
Ivone Leong gene: TMEM107 was added gene: TMEM107 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29 (617562); Meckel syndrome 13 (617562) |
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Ductal plate malformation v0.2 | TCTN3 |
Ivone Leong gene: TCTN3 was added gene: TCTN3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to Joubert syndrome 18 (614815); Orofaciodigital syndrome IV (258860) |
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Ductal plate malformation v0.2 | TCTN2 |
Ivone Leong gene: TCTN2 was added gene: TCTN2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to Joubert syndrome 24 (616654); ?Meckel syndrome 8 (613885) |
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Ductal plate malformation v0.2 | TCTN1 |
Ivone Leong gene: TCTN1 was added gene: TCTN1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to Joubert syndrome 13 (614173) |
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Ductal plate malformation v0.2 | TCTEX1D2 |
Ivone Leong gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly (617405) |
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Ductal plate malformation v0.2 | SEC63 |
Ivone Leong gene: SEC63 was added gene: SEC63 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004) |
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Ductal plate malformation v0.2 | SEC61B |
Ivone Leong gene: SEC61B was added gene: SEC61B was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) |
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Ductal plate malformation v0.2 | SDCCAG8 |
Ivone Leong gene: SDCCAG8 was added gene: SDCCAG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16 (615993) |
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Ductal plate malformation v0.2 | RSPH9 |
Ivone Leong gene: RSPH9 was added gene: RSPH9 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: RSPH9 was set to Unknown Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12 (612650) |
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Ductal plate malformation v0.2 | RSPH4A |
Ivone Leong gene: RSPH4A was added gene: RSPH4A was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: RSPH4A was set to Unknown Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11 (612649) |
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Ductal plate malformation v0.2 | RPGRIP1L |
Ivone Leong gene: RPGRIP1L was added gene: RPGRIP1L was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7 (611560); Meckel syndrome 5 (611561); COACH syndrome (216360) |
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Ductal plate malformation v0.2 | REN |
Ivone Leong gene: REN was added gene: REN was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis (267430) |
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Ductal plate malformation v0.2 | PRKCSH |
Ivone Leong gene: PRKCSH was added gene: PRKCSH was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050) |
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Ductal plate malformation v0.2 | PKHD1 |
Ivone Leong gene: PKHD1 was added gene: PKHD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200) |
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Ductal plate malformation v0.2 | PKD2 |
Ivone Leong gene: PKD2 was added gene: PKD2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) |
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Ductal plate malformation v0.2 | PKD1 |
Ivone Leong gene: PKD1 was added gene: PKD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) |
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Ductal plate malformation v0.2 | OFD1 |
Ivone Leong gene: OFD1 was added gene: OFD1 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (311200); Joubert syndrome 10 (300804) |
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Ductal plate malformation v0.2 | NPHP4 |
Ivone Leong gene: NPHP4 was added gene: NPHP4 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 (606966) |
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Ductal plate malformation v0.2 | NPHP3 |
Ivone Leong gene: NPHP3 was added gene: NPHP3 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1 (208540); Nephronophthisis 3 (604387); Meckel syndrome 7 (267010) |
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Ductal plate malformation v0.2 | NPHP1 |
Ivone Leong gene: NPHP1 was added gene: NPHP1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Nephronophthisis 1, juvenile (256100); Joubert syndrome 4 (609583) |
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Ductal plate malformation v0.2 | NME8 |
Ivone Leong gene: NME8 was added gene: NME8 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary, 6 (610852) |
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Ductal plate malformation v0.2 | NEK8 |
Ivone Leong gene: NEK8 was added gene: NEK8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to ?Nephronophthisis 9 (613824); Renal-hepatic-pancreatic dysplasia 2 (615415) |
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Ductal plate malformation v0.2 | NEK1 |
Ivone Leong gene: NEK1 was added gene: NEK1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly (263520) |
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Ductal plate malformation v0.2 | MKS1 |
Ivone Leong gene: MKS1 was added gene: MKS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Joubert syndrome 28 (617121); Bardet-Biedl syndrome 13 (615990); Meckel syndrome 1 (249000) |
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Ductal plate malformation v0.2 | MKKS |
Ivone Leong gene: MKKS was added gene: MKKS was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6 (605231) |
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Ductal plate malformation v0.2 | MAPKBP1 |
Ivone Leong gene: MAPKBP1 was added gene: MAPKBP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20 (617271) |
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Ductal plate malformation v0.2 | LRP5 |
Ivone Leong gene: LRP5 was added gene: LRP5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875) |
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Ductal plate malformation v0.2 | KIF7 |
Ivone Leong gene: KIF7 was added gene: KIF7 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to Joubert syndrome 12 (200990) |
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Ductal plate malformation v0.2 | KIF14 |
Ivone Leong gene: KIF14 was added gene: KIF14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12 (616258) |
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Ductal plate malformation v0.2 | KIAA0586 |
Ivone Leong gene: KIAA0586 was added gene: KIAA0586 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 (616490) |
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Ductal plate malformation v0.2 | IQCB1 |
Ivone Leong gene: IQCB1 was added gene: IQCB1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 (609254) |
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Ductal plate malformation v0.2 | INVS |
Ivone Leong gene: INVS was added gene: INVS was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile |
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Ductal plate malformation v0.2 | INTU |
Ivone Leong gene: INTU was added gene: INTU was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly (617925); ?Orofaciodigital syndrome XVII (617926) |
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Ductal plate malformation v0.2 | INPP5E |
Ivone Leong gene: INPP5E was added gene: INPP5E was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5E were set to Joubert syndrome 1 (213300) |
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Ductal plate malformation v0.2 | IFT80 |
Ivone Leong gene: IFT80 was added gene: IFT80 was added to Ductal plate malformation (DPM). Sources: Expert list,UKTGN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly (611263) |
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Ductal plate malformation v0.2 | IFT52 |
Ivone Leong gene: IFT52 was added gene: IFT52 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly (617102) |
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Ductal plate malformation v0.2 | IFT172 |
Ivone Leong gene: IFT172 was added gene: IFT172 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly (615630) |
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Ductal plate malformation v0.2 | IFT140 |
Ivone Leong gene: IFT140 was added gene: IFT140 was added to Ductal plate malformation (DPM). Sources: UKTGN,Illumina TruGenome Clinical Sequencing Services,Expert list Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly (266920) |
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Ductal plate malformation v0.2 | IFT122 |
Ivone Leong gene: IFT122 was added gene: IFT122 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 (218330) |
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Ductal plate malformation v0.2 | HYLS1 |
Ivone Leong gene: HYLS1 was added gene: HYLS1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome (236680) |
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Ductal plate malformation v0.2 | HNF1B |
Ivone Leong gene: HNF1B was added gene: HNF1B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome (137920) |
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Ductal plate malformation v0.2 | GANAB |
Ivone Leong gene: GANAB was added gene: GANAB was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666) |
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Ductal plate malformation v0.2 | EVC2 |
Ivone Leong gene: EVC2 was added gene: EVC2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome (225500) |
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Ductal plate malformation v0.2 | EVC |
Ivone Leong gene: EVC was added gene: EVC was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (225500) |
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Ductal plate malformation v0.2 | DYNC2LI1 |
Ivone Leong gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly (617088) |
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Ductal plate malformation v0.2 | DYNC2H1 |
Ivone Leong gene: DYNC2H1 was added gene: DYNC2H1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly (613091) |
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Ductal plate malformation v0.2 | DNAL1 |
Ivone Leong gene: DNAL1 was added gene: DNAL1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16 (614017) |
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Ductal plate malformation v0.2 | DNAI2 |
Ivone Leong gene: DNAI2 was added gene: DNAI2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAI2 was set to Unknown Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus (612444) |
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Ductal plate malformation v0.2 | DNAI1 |
Ivone Leong gene: DNAI1 was added gene: DNAI1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus (244400) |
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Ductal plate malformation v0.2 | DNAH5 |
Ivone Leong gene: DNAH5 was added gene: DNAH5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus (608644) |
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Ductal plate malformation v0.2 | DNAH11 |
Ivone Leong gene: DNAH11 was added gene: DNAH11 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus (611884) |
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Ductal plate malformation v0.2 | DNAAF3 |
Ivone Leong gene: DNAAF3 was added gene: DNAAF3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2 (606763) |
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Ductal plate malformation v0.2 | DNAAF2 |
Ivone Leong gene: DNAAF2 was added gene: DNAAF2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAAF2 was set to Unknown Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10 (612518) |
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Ductal plate malformation v0.2 | DNAAF1 |
Ivone Leong gene: DNAAF1 was added gene: DNAAF1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13 (613193) |
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Ductal plate malformation v0.2 | DDX59 |
Ivone Leong gene: DDX59 was added gene: DDX59 was added to Ductal plate malformation (DPM). Sources: UKGTN Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (174300) |
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Ductal plate malformation v0.2 | CSPP1 |
Ivone Leong gene: CSPP1 was added gene: CSPP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to Joubert syndrome 21 (615636) |
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Ductal plate malformation v0.2 | C5orf42 |
Ivone Leong gene: C5orf42 was added gene: C5orf42 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to Orofaciodigital syndrome VI (277170); Joubert syndrome 17 (614615) |
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Ductal plate malformation v0.2 | CEP83 |
Ivone Leong gene: CEP83 was added gene: CEP83 was added to Ductal plate malformation (DPM). Sources: UKTGN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP83 were set to Nephronophthisis 18 (615862) |
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Ductal plate malformation v0.2 | CEP41 |
Ivone Leong gene: CEP41 was added gene: CEP41 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP41 were set to Joubert syndrome 15 (614464) |
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Ductal plate malformation v0.2 | CEP290 |
Ivone Leong gene: CEP290 was added gene: CEP290 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Meckel syndrome 4 (611134); Joubert syndrome 5 (610188); ?Bardet-Biedl syndrome 14 (615991) |
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Ductal plate malformation v0.2 | CEP164 |
Ivone Leong gene: CEP164 was added gene: CEP164 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Nephronophthisis 15 (614845) |
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Ductal plate malformation v0.2 | CEP120 |
Ivone Leong gene: CEP120 was added gene: CEP120 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Joubert syndrome 31 (617761); Short-rib thoracic dysplasia 13 with or without polydactyly (616300) |
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Ductal plate malformation v0.2 | CEP104 |
Ivone Leong gene: CEP104 was added gene: CEP104 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP104 were set to Joubert syndrome 25 (616781) |
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Ductal plate malformation v0.2 | CCDC40 |
Ivone Leong gene: CCDC40 was added gene: CCDC40 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CCDC40 was set to Unknown Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15 (613808) |
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Ductal plate malformation v0.2 | CCDC39 |
Ivone Leong gene: CCDC39 was added gene: CCDC39 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CCDC39 was set to Unknown Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14 (613807) |
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Ductal plate malformation v0.2 | CC2D2A |
Ivone Leong gene: CC2D2A was added gene: CC2D2A was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360) |
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Ductal plate malformation v0.2 | C2CD3 |
Ivone Leong gene: C2CD3 was added gene: C2CD3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to ?Orofaciodigital syndrome XIV (615948) |
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Ductal plate malformation v0.2 | BBS9 |
Ivone Leong gene: BBS9 was added gene: BBS9 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9 (615986) |
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Ductal plate malformation v0.2 | BBS7 |
Ivone Leong gene: BBS7 was added gene: BBS7 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7 (615984) |
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Ductal plate malformation v0.2 | BBS5 |
Ivone Leong gene: BBS5 was added gene: BBS5 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5 (615983) |
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Ductal plate malformation v0.2 | BBS4 |
Ivone Leong gene: BBS4 was added gene: BBS4 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4 (615982) |
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Ductal plate malformation v0.2 | BBS2 |
Ivone Leong gene: BBS2 was added gene: BBS2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2 (615981) |
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Ductal plate malformation v0.2 | BBS12 |
Ivone Leong gene: BBS12 was added gene: BBS12 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12 (615989) |
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Ductal plate malformation v0.2 | BBS10 |
Ivone Leong gene: BBS10 was added gene: BBS10 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10 (615987) |
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Ductal plate malformation v0.2 | BBS1 |
Ivone Leong gene: BBS1 was added gene: BBS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 (209900) |
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Ductal plate malformation v0.2 | B9D2 |
Ivone Leong gene: B9D2 was added gene: B9D2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D2 were set to Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175) |
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Ductal plate malformation v0.2 | B9D1 |
Ivone Leong gene: B9D1 was added gene: B9D1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) |
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Ductal plate malformation v0.2 | ARL6 |
Ivone Leong gene: ARL6 was added gene: ARL6 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to {Bardet-Biedl syndrome 1, modifier of} (209900); Bardet-Biedl syndrome 3 (600151) |
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Ductal plate malformation v0.2 | ARL13B |
Ivone Leong gene: ARL13B was added gene: ARL13B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8 (612291) |
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Ductal plate malformation v0.2 | ANKS6 |
Ivone Leong gene: ANKS6 was added gene: ANKS6 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16 |
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Ductal plate malformation v0.2 | ALMS1 |
Ivone Leong gene: ALMS1 was added gene: ALMS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Emory Genetics Laboratory Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome (203800) |
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Ductal plate malformation v0.2 | ALG8 |
Ivone Leong gene: ALG8 was added gene: ALG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874) |
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Ductal plate malformation v0.2 | AHI1 |
Ivone Leong gene: AHI1 was added gene: AHI1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome 3 (608629) |
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Ductal plate malformation v0.2 | AGT |
Ivone Leong gene: AGT was added gene: AGT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis (267430) |
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Ductal plate malformation | Ellen McDonagh approved panel |