Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial Diseases, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052, Isolated complex V deficiency, Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
R-numbers: R396 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
R-numbers: R357 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Isolated complex V deficiency, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052, Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type, Mitochondrial Diseases |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 |