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Intellectual disability

Gene: OTUD5

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to rate this gene Green at the next GMS panel update.

At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene. GDD/ID is part of the disease presentation and was noted in all cases of relevant age (PMIDs: 33131077 and 33523931).
Created: 10 Feb 2021, 10:55 a.m. | Last Modified: 10 Feb 2021, 10:55 a.m.
Panel Version: 3.774
Created: 10 Feb 2021, 10:55 a.m.
Last Modified: 10 Feb 2021, 10:55 a.m.
Panel version: 3.774

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 33523931: Another 10 individuals from 7 families reported. Key features include 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, 10:18 p.m. | Last Modified: 9 Feb 2021, 10:19 p.m.
Panel Version: 3.773
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.
Sources: Literature
Created: 1 Feb 2021, 9:09 a.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: 1 Feb 2021, 9:09 a.m.
Last Modified: 9 Feb 2021, 10:19 p.m.
Panel version: 3.773

Details

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

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: OTUD5.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to OTUD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: otud5 has been classified as Amber List (Moderate Evidence).

10 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: OTUD5.

9 Feb 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: OTUD5 were set to 33131077

9 Feb 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: OTUD5 was added gene: OTUD5 was added to Intellectual disability. 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 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