Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Intellectual disability - microarray and sequencing v3.1519 ATP1A3 Ivone Leong Tag Q3_21_expert_review was removed from gene: ATP1A3.
Intellectual disability - microarray and sequencing v3.1519 ATP1A3 Sarah Leigh commented on gene: ATP1A3
Intellectual disability - microarray and sequencing v3.1519 ATP1A3 Ivone Leong Source Expert Review Green was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1478 FOXR1 Zornitza Stark gene: FOXR1 was added
gene: FOXR1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Intellectual disability - microarray and sequencing v3.1305 ATP1A3 Zornitza Stark Deleted their comment
Intellectual disability - microarray and sequencing v3.1283 ATP1A3 Arina Puzriakova Publications for gene: ATP1A3 were set to 22842232; 29396171; 29291920; 22842232; 28969699; 32802951
Intellectual disability - microarray and sequencing v3.1282 ATP1A3 Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: ATP1A3.
Intellectual disability - microarray and sequencing v3.1282 ATP1A3 Arina Puzriakova commented on gene: ATP1A3: Gene was reassessed following a further Green review by Zornitza Stark (8 Jul 2021). Vetro et al. (PMID: 33880529) identified several individuals with variants in this gene who presented with DD/ID as the predominant feature. Therefore, ATP1A3 will be flagged for GMS expert review as inclusion on this panel may be of value in some patients but previous comments regarding association with several phenotypes should be considered.
Intellectual disability - microarray and sequencing v3.1163 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed phenotypes to: Developmental and epileptic encephalopathy
Intellectual disability - microarray and sequencing v3.1163 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: Sixteen individuals reported with DD/EE.; Changed publications to: 33880529; Changed phenotypes to: Alternating hemiplegia of childhood 2, MIM#614820, Developmental and epileptic encephalopathy
Intellectual disability - microarray and sequencing v3.729 ATP1A3 Arina Puzriakova Publications for gene: ATP1A3 were set to 22842232; 29396171; 29291920; 22842232; 28969699
Intellectual disability - microarray and sequencing v3.729 ATP1A3 Arina Puzriakova Classified gene: ATP1A3 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.729 ATP1A3 Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating on this panel, in line with the previous comments by Louise Daugherty (Genomics England) and internal clinical review.

Heterozygous variants are associated with several phenotypes, not all of which include cognitive impairment. Gain from inclusion on the ID panel is likely smaller than the risk of incidental information for the majority of the ID cohort. Patients are expected to be tested under the paroxysmal central nervous system disorders or dystonia GMS panels.
Intellectual disability - microarray and sequencing v3.729 ATP1A3 Arina Puzriakova Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.295 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: Four additional individuals with dystonia, dysmorphism, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia, and neonatal onset. All had de novo missense variants. All are described to have global developmental delay, hence supporting upgrade in rating on this panel.; Changed rating: GREEN; Changed publications: https://doi.org/10.1212/NXG.0000000000000466; Changed phenotypes: Alternating hemiplegia of childhood 2, MIM#614820, Neurodevelopmental disorder; Set current diagnostic: yes
Intellectual disability - microarray and sequencing ATP1A3 Louise Daugherty classified ATP1A3 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing ATP1A3 Louise Daugherty reviewed gene: ATP1A3
Intellectual disability - microarray and sequencing ATP1A3 Zornitza Stark reviewed gene: ATP1A3
Intellectual disability - microarray and sequencing ATP1A3 BRIDGE consortium edited their review of ATP1A3
Intellectual disability - microarray and sequencing ATP1A3 BRIDGE consortium edited their review of ATP1A3
Intellectual disability - microarray and sequencing ATP1A3 BRIDGE consortium reviewed ATP1A3