SHROOM4

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SHROOM4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Literature Phenotypes Abnormal corpus callosum congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems Tags gene-checked
Amber SHROOM4 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.5 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes epilepsy, MONDO:0005027
Amber SHROOM4 in Intellectual disability Level 2: Developmental disorders Version 10.16 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes neurodevelopmental disorder, MONDO:0700092 X-linked intellectual disability, Stocco dos Santos type, MONDO:0010325 Tags disputed