Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000767691 | SCV000898313 | pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000415106 | SCV000328859 | pathogenic | Ichthyosis | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in KIAA2022 (NM_001008537.2, c.1376_1377del) and recurrent Xp22.31 (STS) deletion in one individual with reported features of hypotonia, failure to thrive, ichthyosis, abnormal movements, short stature, microcephaly and hypothyroidism. The KIAA2022 variant is categorized as deleterious according to ACMGG guidelines [PMID: 18414213] |