Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000414950 | SCV000328779 | likely pathogenic | Alexander disease | 2015-04-30 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in GFAP (NM_002055.4, c.215A>G) and MPZ (homozygous deletion of exons 4-6) in one individual with reported features that included global developmental delay, delayed speech, developmental regression, intellectual disability, Alexander disease with dystonia, leukodystrophy, nystagmus, seizure disorder, macrocephaly, osteoporosis, scoliosis/kyphosis, hip dysplasia and dislocation, eczema, chronic lung disease, and constipation. |