SHROOM4

shroom family member 4
OMIM: 300579, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Red SHROOM4 in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434
Amber SHROOM4 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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 Stocco dos Santos X-linked mental retardation syndrome, 300434 Intellectual disability

Panel

Reviews

Mode of inheritance

Details

Red SHROOM4 in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

review

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Literature

Phenotypes

Stocco dos Santos X-linked mental retardation syndrome, 300434

Amber SHROOM4 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

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

Stocco dos Santos X-linked mental retardation syndrome, 300434
Intellectual disability