Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: HERC1

Comment from Ellen Thomas 3rd April 2017: It is not so clear-cut, "for the overgrowth panel as not all the children were overgrown and some of them only for parts of their development."

Created: 3 Apr 2017, 3:19 p.m.

I don't know

Review and Amber rating from Kate Tatton-Brown April 2017: Limited evidence currently that an overgrowth gene although may be very rare contributor to overgrowth

Created: 31 May 2019, 11:18 a.m.

HERC1 has been associated to a syndromic form of overgrowth and intellectual disability. There are 3 unrelated cases with Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR).
Human overgrowth syndromes (OGID) are a ill-defined group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. Need to refer to the clinical team if HERC1 should be Green (as the abnormal growth of the head is not the dominant phenotype)

Created: 31 Mar 2017, 1:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011

Publications

• 26138117
• 27108999
• 26153217