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| 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 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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