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  3. OTUD5
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Intellectual disability syndromic and non-syndromic

Gene: OTUD5

Green List (high evidence)
OTUD5 (OTU deubiquitinase 5)
EnsemblGeneIds (GRCh38): ENSG00000068308
EnsemblGeneIds (GRCh37): ENSG00000068308
OMIM: 300713, Gene2Phenotype
OTUD5 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33523931: Another 10 individuals from 7 families reported, promote to Green.

X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Created: 9 Feb 2021, 10:12 p.m. | Last Modified: 9 Feb 2021, 10:12 p.m.
Panel Version: 0.3436

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

Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056

Publications

Created: 9 Feb 2021, 10:12 p.m.
Last Modified: 9 Feb 2021, 10:12 p.m.
Panel version: 0.3436

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies.
Sources: Literature
Created: 31 Jan 2021, 11:42 p.m.

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

Phenotypes
X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality

Publications

Created: 31 Jan 2021, 11:42 p.m.

Panel version: 0.3420

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056
OMIM
300713
Clinvar variants
Variants in OTUD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056

9 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OTUD5 were set to PMID: 33131077

9 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otud5 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otud5 has been classified as Red List (Low Evidence).

31 Jan 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: OTUD5 was added gene: OTUD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to PMID: 33131077 Phenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality Review for gene: OTUD5 was set to RED