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| Malformations of cortical development v8.8 | ATP1A2 |
Ida Ertmanska changed review comment from: Monoallelic cases: PMID: 33880529 Vetro et al., 2021 Twenty-two patients harboured 19 distinct heterozygous mutations of ATP1A2 (six patients, five mutations). Additional biallelic cases: PMID: 37870493 Furukawa et al., 2023 Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans. PMID: 39046620 Hassani & Malekzadeh, 2024 Report of an Iranian consanguineous family with 2 newborn sibs affected by Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 'FARIMPD' syndrome. Both passed away within the first 24 hrs after birth. Homozygous c.1234C>T, p.Arg412* variant in ATP1A2 found by WES in the newborns. PMID: 38549198 Burrill et al., 2024 Report of diamniotic twins, one of them affected. Fetal ultrasound and MRI of the affected twin demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture. The proband passed away within the first hour of life due to respiratory compromise. Postmortem trio WES identified a homozygous ATP1A2 (c.2439+1G>A) variant as causal.; to: Monoallelic cases: PMID: 33880529 Vetro et al., 2021 Report of 6 patients who harboured 5 distinct heterozygous missense variants in ATP1A2. 3/6 patients had severe ID/DD, 2 - moderate, and 1 individual had no DD/ID. 2/6 patients had postnatal microcephaly. Polymicrogyria was present in just 1/6 individuals reported (P6) - more common in patients with ATP1A3 variants. Alternating hemiplegia was not present in any of the probands. Additional biallelic cases: PMID: 37870493 Furukawa et al., 2023 Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans. PMID: 39046620 Hassani & Malekzadeh, 2024 Report of an Iranian consanguineous family with 2 newborn sibs affected by Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 'FARIMPD' syndrome. Both passed away within the first 24 hrs after birth. Homozygous c.1234C>T, p.Arg412* variant in ATP1A2 found by WES in the newborns. PMID: 38549198 Burrill et al., 2024 Report of diamniotic twins, one of them affected. Fetal ultrasound and MRI of the affected twin demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture. The proband passed away within the first hour of life due to respiratory compromise. Postmortem trio WES identified a homozygous ATP1A2 (c.2439+1G>A) variant as causal. |
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| Malformations of cortical development v3.11 | ATP1A3 | Arina Puzriakova Tag Q4_21_rating was removed from gene: ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | ATP1A3 | Arina Puzriakova reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | ATP1A3 |
Arina Puzriakova Source Expert Review Green was added to ATP1A3. Source NHS GMS was added to ATP1A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.103 | ATP1A3 | Ivone Leong Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; epilepsy; developmental delay to Polymicrogyria, MONDO:0000087; epilepsy, MONDO:0005027; developmental delay; Developmental and epileptic encephalopathy 99, OMIM:619606 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.102 | ATP1A3 | Ivone Leong Classified gene: ATP1A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.102 | ATP1A3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. PMID:33880529 describes additional cases of patients with variants in ATP1A3 who have polymicrogyria. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.102 | ATP1A3 | Ivone Leong Gene: atp1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.101 | ATP1A3 | Ivone Leong Publications for gene: ATP1A3 were set to 33762331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.100 | ATP1A3 | Ivone Leong Tag Q4_21_rating tag was added to gene: ATP1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.44 | ATP1A3 |
Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 33762331 Phenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay Review for gene: ATP1A3 was set to GREEN gene: ATP1A3 was marked as current diagnostic Added comment: Eight individuals with de novo variants reported and a phenotype distinct from those previously reported in association with this gene. Sources: Literature |
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