FG syn, Lujan syn MED12 XL 13% males with clinical diagnosis of FG syn Sotos syn-2, Marshall-Smith NFIX AD 4% patients with Sotos-like features10 syn Sotos syn NSD1 AD 90-93% of non-Japanese patients w/ Sotos syn 63% Japanese patients w/ Sotos syn Borjeson-Forssman-Lehmann PHF6 XL 56% males with BFLS syn (BFLS) Gorlin syn PTCH AD 72% of patients with Gorlin syndrome PTEN-related autism and PTEN AD 2-17% of patients with autism Macrocephaly, Cowden syn spectrum disorders and macrocephaly (CS), 81% of patients with CS Bannayan-Riley-Ruvalcaba syn 71% of patients with BRRS (BRRS) Lujan syn, FG syn, UPF3B XL ~1% X-linked intellectual disability Nonsyndromic X-linked intellectual disability -If this is a request is for a gene panel, then please describe why a single gene test is not as Because of the significant clinical overlap and phenotypic heterogeneity of useful. disorders causing syndromic macrocephaly, it can be difficult to make a clinical diagnosis, particularly in infancy. Additionally, variants in a single gene may be associated with a broad spectrum of clinical presentations (clinical heterogeneity).Therefore, a multi-gene panel is very useful in helping to establish the cause of syndromic macrocephaly.
FG syn, Lujan syn MED12 XL 13% males with clinical diagnosis of FG syn Sotos syn-2, Marshall-Smith syn NFIX AD 4% patients with Sotos-like features10 Sotos syn NSD1 AD 90-93% of non-Japanese patients w/ Sotos syn 63% Japanese patients w/ Sotos syn Borjeson-Forssman-Lehmann syn (BFLS) PHF6 XL 56% males with BFLS Gorlin syn PTCH AD 72% of patients with Gorlin syndrome PTEN-related autism and Macrocephaly, Cowden syn (CS), Bannayan-Riley-Ruvalcaba syn (BRRS) PTEN AD 2-17% of patients with autism spectrum disorders and macrocephaly 81% of patients with CS 71% of patients with BRRS Lujan syn, FG syn, Nonsyndromic X-linked intellectual disability UPF3B XL ~1% X-linked intellectual disability -If this is a request is for a gene panel, then please describe why a single gene test is not as useful. Because of the significant clinical overlap and phenotypic heterogeneity of disorders causing syndromic macrocephaly, it can be difficult to make a clinical diagnosis, particularly in infancy. Additionally, variants in a single gene may be associated with a broad spectrum of clinical presentations (clinical heterogeneity).Therefore, a multi-gene panel is very useful in helping to establish the cause of syndromic macrocephaly.