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Intellectual disability - microarray and sequencing v5.304 WIPI2 Arina Puzriakova Phenotypes for gene: WIPI2 were changed from ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453
Intellectual disability - microarray and sequencing v5.303 WIPI2 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: WIPI2.
Intellectual disability - microarray and sequencing v5.286 WIPI2 Arina Puzriakova reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v5.286 WIPI2 Arina Puzriakova Source NHS GMS was added to WIPI2.
Source Expert Review Green was added to WIPI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v5.85 WIPI2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability (moderate to profound) and supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
Intellectual disability - microarray and sequencing v5.85 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
Intellectual disability - microarray and sequencing v5.84 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
Intellectual disability - microarray and sequencing v5.84 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
Intellectual disability - microarray and sequencing v5.84 WIPI2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: WIPI2.
Intellectual disability - microarray and sequencing v5.84 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
Intellectual disability - microarray and sequencing v5.84 WIPI2 Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.83 WIPI2 Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.82 WIPI2 Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v5.82 WIPI2 Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v5.81 WIPI2 Achchuthan Shanmugasundram Classified gene: WIPI2 as Red List (low evidence)
Intellectual disability - microarray and sequencing v5.81 WIPI2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
Intellectual disability - microarray and sequencing v5.81 WIPI2 Achchuthan Shanmugasundram Gene: wipi2 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v5.80 WIPI2 Achchuthan Shanmugasundram reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30968111, 34557665; Phenotypes: ?Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1332 WIPI2 Zornitza Stark edited their review of gene: WIPI2: Added comment: PMID: 34557665 (2021)
- two novel homozygous variants were identified in four individuals of two consanguineous families.
- one family presented with microcephaly, profound global developmental delay/intellectual disability, refractory infantile/childhood-onset epilepsy, progressive tetraplegia with joint contractures and dyskinesia.
- second family (similar to initial publication) presented with a milder phenotype, encompassing moderate intellectual disability, speech and visual impairment, autistic features, and an ataxic gait.
- functional studies showed dysregulation of the early steps of the autophagy pathway.; Changed rating: GREEN; Changed publications to: 30968111, 34557665; Set current diagnostic: yes
Intellectual disability - microarray and sequencing v3.147 WIPI2 Sarah Leigh Classified gene: WIPI2 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.147 WIPI2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 homozygous variant was reported in 4 members of a consanguineous family.
Intellectual disability - microarray and sequencing v3.147 WIPI2 Sarah Leigh Gene: wipi2 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.146 WIPI2 Sarah Leigh Phenotypes for gene: WIPI2 were changed from Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Intellectual disability - microarray and sequencing v3.31 WIPI2 Zornitza Stark gene: WIPI2 was added
gene: WIPI2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to RED
Added comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function. One to watch.
Sources: Literature