Severe microcephaly
Gene: PUS7The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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 β4.5SD at age 8, β5.7 SD at age 4.5 and β5.2 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
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 listCreated: 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
Tag Q2_21_rating was removed from gene: PUS7.
Source Expert Review Green was added to PUS7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: PUS7.
Gene: pus7 has been classified as Amber List (Moderate Evidence).
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
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