Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 |