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Fetal anomalies

Gene: SHROOM4

Green List (high evidence)
SHROOM4 (shroom family member 4)
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 5 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Created: 1 Dec 2022, 3:34 a.m. | Last Modified: 1 Dec 2022, 3:34 a.m.
Panel Version: 1.76

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

Phenotypes
Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719

Publications

Created: 1 Dec 2022, 3:34 a.m.
Last Modified: 1 Dec 2022, 3:34 a.m.
Panel version: 1.76

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families only, clinical presentation is typically post-natal; there are only two P/LP variants in this gene in ClinVar. Fetus identified as part of an ACC cohort with LoF variant in SHROOM4, PMID 32565546.
Created: 18 Feb 2020, 7:25 a.m. | Last Modified: 23 Feb 2022, 2:33 a.m.
Panel Version: 0.3927

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

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

Publications

Created: 18 Feb 2020, 7:25 a.m.
Last Modified: 23 Feb 2022, 2:33 a.m.
Panel version: 0.3928

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
OMIM
300579
Clinvar variants
Variants in SHROOM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: shroom4 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom4 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shroom4 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHROOM4 were set to 32565546

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHROOM4 was added gene: SHROOM4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 32565546 Phenotypes for gene: SHROOM4 were set to Stocco dos Santos X-linked mental retardation syndrome, 300434