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Severe microcephaly

Gene: PUS7

Amber List (moderate evidence)

PUS7 (pseudouridylate synthase 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000091127
EnsemblGeneIds (GRCh37): ENSG00000091127
OMIM: 616261, Gene2Phenotype
PUS7 is in 4 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from grey to amber but with a recommendation for a green rating following GMS review. 4 families reported with a severe microcephaly phenotype.
Created: 19 May 2021, 4:48 p.m. | Last Modified: 19 May 2021, 4:48 p.m.
Panel Version: 2.178
Associated with Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature #618342 (AR) in OMIM.

4 families reported in which a severe microcephaly phenotype was observed along with intellectual disability.

PMID:30526862 - de Brouwer et al 2018 - report 6 individuals from 3 families with 3 different homozygous protein truncating variants in PUS7. All presented with intellectual disability with speech delay, short stature, microcephaly, and aggressive behaviour. In 3 individuals from 2 families the head circumference was more than -3 SD from normal.

PMID:30778726 - Shaheen et al 2019 - report 3 individuals from 2 consanguineous families with homozygous PUS7 variants (missense and frameshift deletion) and a phenotype which includes intellectual disability and progressive microcephaly. The microcephaly was severe in all 3 individuals (OFC −4.5SD at age 8, −5.7 SD at age 4.5 and −5.2 SD at age 2.5 years). The variants segregated with the phenotype in both families.

PMID:31583274 - Darvish et al 2019 - report a consanguineous Afghani family with 2 children with a novel PUS7 homozygous missense variant presenting with ID, speech delay, motor impairments, and aggressive behaviour but without microcephaly and short stature.
Created: 19 May 2021, 4:47 p.m. | Last Modified: 19 May 2021, 4:47 p.m.
Panel Version: 2.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Expert list
Created: 3 Sep 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342
Tags
Q2_21_rating
OMIM
616261
Clinvar variants
Variants in PUS7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PUS7.

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pus7 has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PUS7 were changed from Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342 to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342

3 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PUS7 was added gene: PUS7 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342 Review for gene: PUS7 was set to GREEN gene: PUS7 was marked as current diagnostic