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{
"count": 220467,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=965",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=963",
"results": [
{
"created": "2022-02-28T13:59:06.616999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Green List (High Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:58:54.330166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:57:52.876635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNFX1 were set to 33872655; 33876776",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:55:19.294809+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R3C as ready",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:55:19.279933+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:55:15.253944+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R3C as Green List (high evidence)",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:55:15.242984+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:55:04.764122+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2R3C was added\ngene: PPP2R3C was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP2R3C were set to 30893644; 34714774; 34750818\nPhenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419\nReview for gene: PPP2R3C was set to GREEN\nAdded comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility. \nSources: Literature",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:53:42.606082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COPB2 was added\ngene: COPB2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COPB2 were set to 29036432; 34450031\nPhenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800\nReview for gene: COPB2 was set to RED\ngene: COPB2 was marked as current diagnostic\nAdded comment: IUGR or small at birth (including microcephaly) not noted for any of the probands. Fractures and osteopenia were not detected antenatally. \nSources: Literature",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:53:39.420829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R3C as ready",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:53:39.409053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:51:15.525159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R3C as Green List (high evidence)",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:51:15.513959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:43:30.628724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ARF1 was added\ngene: ARF1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARF1 were set to 28868155; 34353862\nPhenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8 (MIM#618185)\nReview for gene: ARF1 was set to RED\nAdded comment: Three unrelated individuals reported with de novo missense in this gene. PMID: 34353862: Additional report of affected parent and child.\r\n\r\n1 patient had microcephaly in teens but normal head circumference at first examination. \nSources: Literature",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:22:04.931017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ATXN2L was added\ngene: ATXN2L was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATXN2L were set to 33283965; 33057194\nPhenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability\nReview for gene: ATXN2L was set to AMBER\nAdded comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0\r\n\r\n33283965 - Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. Macrocephaly was detected prenatally. This together with breech presentation resulted in elective C-section at 36 weeks. \nSources: Literature",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:17:57.930568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: COPB1 was added\ngene: COPB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COPB1 were set to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts\nReview for gene: COPB1 was set to RED\ngene: COPB1 was marked as current diagnostic\nAdded comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date.\r\n\r\nCataracts were also post-natal \nSources: Literature",
"entity_name": "COPB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:16:14.142774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CHKA was added\ngene: CHKA was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKA were set to 35202461\nPhenotypes for gene: CHKA were set to neurodevelopmental disorder, CHKA-related MONDO#0700092\nReview for gene: CHKA was set to RED\ngene: CHKA was marked as current diagnostic\nAdded comment: post-natal microcephaly and short stature. \r\nSymptoms which were present within the first few months post birth include developmental delay and seizures \nSources: Literature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:10:14.934266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CENPE was added\ngene: CENPE was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPE were set to 24748105; 30086807\nPhenotypes for gene: CENPE were set to Microcephaly 13, primary, autosomal recessive (MIM#616051)\nReview for gene: CENPE was set to RED\ngene: CENPE was marked as current diagnostic\nAdded comment: PMID: 24748105;\r\n- 2 siblings from non-consanguineous family of European descent\r\n- patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age\r\n- patient B: no measurement at birth but OFC was -7SD at 3 years of age\r\n- cHet for 2 missense\r\n\r\n*no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807) \nSources: Literature",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:07:15.570557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x 8-generational family with 10 affecteds\r\n\r\nunclear of microcephaly was present at birth or acquired \nSources: Literature; to: 1x 8-generational family with 10 affecteds\r\n\r\nunclear if microcephaly was present at birth or acquired \r\nSources: Literature",
"entity_name": "CDK6",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:04:01.369029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CDK6 was added\ngene: CDK6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CDK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK6 were set to 23918663\nPhenotypes for gene: CDK6 were set to Microcephaly 12, primary, autosomal recessive, MIM#616080\nReview for gene: CDK6 was set to AMBER\ngene: CDK6 was marked as current diagnostic\nAdded comment: 1x 8-generational family with 10 affecteds\r\n\r\nunclear of microcephaly was present at birth or acquired \nSources: Literature",
"entity_name": "CDK6",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:01:06.425188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2R3C was added\ngene: PPP2R3C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP2R3C were set to 30893644; 34714774; 34750818\nPhenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419\nReview for gene: PPP2R3C was set to GREEN\nAdded comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility. \nSources: Literature",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T13:00:40.327458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCDC88A was added\ngene: CCDC88A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC88A were set to 30392057; 26917597\nPhenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507)\nReview for gene: CCDC88A was set to AMBER\ngene: CCDC88A was marked as current diagnostic\nAdded comment: PMID: 26917597;\r\n1x family with 3 affecteds microcephaly (birth OFC -3 - -4 SD)\r\n\r\ntotal of 2 consanguineous families with 5 affecteds and functional studies of KO mice \nSources: Literature",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:58:47.983647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R3C as ready",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:58:47.972897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:58:40.023687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: APC2 was added\ngene: APC2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APC2 were set to 31585108\nPhenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677\nReview for gene: APC2 was set to RED\ngene: APC2 was marked as current diagnostic\nAdded comment: Onset in infancy\r\n\r\n12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum. \nSources: Literature",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:58:24.999998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:57:23.893382+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R3C as ready",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:57:23.884055+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r3c has been classified as Green List (High Evidence).",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:57:21.130151+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818",
"entity_name": "PPP2R3C",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:55:52.821720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDX2 were changed from Persistent cloaca to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:55:05.916445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: C7orf43 was added\ngene: C7orf43 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C7orf43 were set to 30715179\nPhenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351\nPenetrance for gene: C7orf43 were set to Complete\nReview for gene: C7orf43 was set to AMBER\ngene: C7orf43 was marked as current diagnostic\nAdded comment: HGNC approved name TRAPPC14\r\n\r\nSingle family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.\r\n\r\nOccipital-frontal circumferences were below\u00022 SD at birth, with microcephaly progressing later in life \nSources: Literature",
"entity_name": "C7orf43",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:51:31.501466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATRIP was added\ngene: ATRIP was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to Seckel Syndrome\nReview for gene: ATRIP was set to RED\ngene: ATRIP was marked as current diagnostic\nAdded comment: Red in Mendeliome - only 1 report of post-natal progressive microcephaly \nSources: Literature",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:41:06.495828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to 34764295; 34379057\nPhenotypes for gene: ATP9A were set to neurodevelopmental disorder, ATP9A-related MONDO#0700092\nPenetrance for gene: ATP9A were set to Complete\nReview for gene: ATP9A was set to AMBER\ngene: ATP9A was marked as current diagnostic\nAdded comment: post-natal microcephaly, 4 unrelated families\r\n\r\n1x polyhydramnios noted and born small, weight of 3570g (−0.41 SD), a length of 50cm (−1.37 SD) and an OFC of 34cm (−1.47 SD). \nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:34:44.871233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ARPC4 was added\ngene: ARPC4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC4 were set to 35047857\nPhenotypes for gene: ARPC4 were set to neurodevelopmental disorder, ARPC4-related MONDO#0700092\nPenetrance for gene: ARPC4 were set to Complete\nReview for gene: ARPC4 was set to RED\ngene: ARPC4 was marked as current diagnostic\nAdded comment: post natal microcephaly except for 1 noted as 4% at birth\r\n\r\n7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). \r\n\r\nCore features in affected individuals include microcephaly, mild motor delays, and significant speech impairment \nSources: Literature",
"entity_name": "ARPC4",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:26:42.577146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ANKLE2 was added\ngene: ANKLE2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANKLE2 were set to 25259927; 30214071; 31735666\nPhenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, MIM# 616681\nReview for gene: ANKLE2 was set to GREEN\ngene: ANKLE2 was marked as current diagnostic\nAdded comment: total of 4 unrelated born with microcephaly \nSources: Literature",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:15:58.641133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: AGMO was added\ngene: AGMO was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGMO were set to 31555905; 27000257\nPhenotypes for gene: AGMO were set to neurodevelopmental disorder, AGMO-related MONDO#0700092\nPenetrance for gene: AGMO were set to Complete\nReview for gene: AGMO was set to RED\ngene: AGMO was marked as current diagnostic\nAdded comment: syndromic neurodevelopmental disorder with ID, microcephaly and epilesy reported\r\n\r\n1x oligo-hydramnios, maternal hypothyroidism, and decreased fetal movement\r\nbirth weight was 2892 g (23%) and length was 49.5 cm (50%). Head circumference was not known but noted to be 5–10%\r\n\r\n1x uneventful pregnancy\r\nbirth weight was 2977 g (55%) and length was 53.3 cm (98%)\r\n\r\n1x siblings with post natal microcephaly \nSources: Literature",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:04:48.485243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ADD3 was added\ngene: ADD3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADD3 were set to 23836506; 29768408\nPhenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 MIM#617008\nPenetrance for gene: ADD3 were set to Complete\nReview for gene: ADD3 was set to RED\ngene: ADD3 was marked as current diagnostic\nAdded comment: post natal borderline microcephaly and cataract \nSources: Literature",
"entity_name": "ADD3",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:02:59.352661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDX2 were changed from Persistent cloaca to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2022-02-28T12:01:10.250310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ADARB1 was added\ngene: ADARB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADARB1 were set to 32220291; 32719099\nPhenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, MIM#618862\nPenetrance for gene: ADARB1 were set to Complete\nReview for gene: ADARB1 was set to AMBER\ngene: ADARB1 was marked as current diagnostic\nAdded comment: 6 unrelated families\r\n\r\n1 microcephalic at birth (-2.2 SD) + 1 birth length at -4.3 SD \nSources: Literature",
"entity_name": "ADARB1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:57:15.682569+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKA as ready",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:57:15.671341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:57:11.221235+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKA were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:56:37.247797+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKA as Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:56:37.237367+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:55:53.751190+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKA as ready",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:55:53.739972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:55:50.408215+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKA were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:55:06.007595+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKA as Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:55:05.995233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:54:32.298206+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKA as Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:54:32.286943+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:54:07.498108+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:53:49.690445+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKA as ready",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:53:49.676506+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:53:45.420859+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKA were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:53:18.151332+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKA as Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:53:18.142315+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:51:46.233561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHKA as ready",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:51:46.222412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:51:31.645850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHKA were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:50:17.615344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHKA as Green List (high evidence)",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:50:17.602846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chka has been classified as Green List (High Evidence).",
"entity_name": "CHKA",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:49:37.008920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:49:36.996944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:49:05.783673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13A as Red List (low evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:49:05.772577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:48:33.857128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYT2 as ready",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:48:33.845401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt2 has been classified as Green List (High Evidence).",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:48:26.958177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYT2 as Green List (high evidence)",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:48:26.946479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt2 has been classified as Green List (High Evidence).",
"entity_name": "SYT2",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:59.568959+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:59.557967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:56.305058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic MIM#618197; Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182 to Myasthenic syndrome, congenital, 23, presynaptic MIM#618197; Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:44.732362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A1 as Red List (low evidence)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:44.723226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:47:08.105859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHS were set to ",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:46:41.491127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPH3A as ready",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:46:41.479471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rph3a has been classified as Red List (Low Evidence).",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:46:36.281594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPH3A as Red List (low evidence)",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:46:36.271610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rph3a has been classified as Red List (Low Evidence).",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:46:08.783052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical presentation is with SCID, short stature and microcephaly. ID was part of the phenotype in only one individual in the original paper describing this condition.; to: Clinical presentation is with SCID, short stature and microcephaly.",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:45:58.913958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHEJ1: Changed rating: GREEN",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:45:13.145832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEC as ready",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:45:13.133233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:45:07.938368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEC as Green List (high evidence)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:45:07.927172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plec has been classified as Green List (High Evidence).",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:44:01.136755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF5: Changed rating: GREEN",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:43:54.288584+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:42:51.771316+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA5 as ready",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:42:51.760248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:42:16.292239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA5 as Red List (low evidence)",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:42:16.281015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:41:39.317426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:41:35.475946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBN: Changed rating: GREEN",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:41:02.717766+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-02-28T11:40:52.321007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NACC1: Changed rating: GREEN",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-02-28T10:34:34.202200+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TSEN2 as Green List (high evidence)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-02-28T10:34:34.190883+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-02-28T10:33:54.191695+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TSEN2 was added\ngene: TSEN2 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TSEN2 were set to PMID: 34964109\nPhenotypes for gene: TSEN2 were set to TRACK syndrome\nReview for gene: TSEN2 was set to GREEN\nAdded comment: Biallelic variants in TSEN2 cause pontocerebellar hypoplasia. Canpolat et a. (2022) report an intronic recessive founder variant in TSEN2 that results in abnormal splicing of the mRNA of this gene, in 6 individuals from 4 consanguineous families. Individuals were affected with microcephaly, craniofacial malformations, CNS abnormalities, cognitive retardation of variable severity, and all individuals developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of 4 affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Proposed as TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure). \nSources: Literature",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2022-02-28T10:28:28.215625+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.107",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TSEN2 as Green List (high evidence)",
"entity_name": "TSEN2",
"entity_type": "gene"
}
]
}