Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MCAHS1 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080, Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Multiple congenital anomalies-hypotonia-seizures syndrome 1 |