HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220403,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=951",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=949",
"results": [
{
"created": "2022-03-03T12:03:04.389932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from langauge delay and moderate ID, phenotypes included facial dysmorphisms and cochlear abnormalities and arhinencephaly on MRI. Hearing was normal. Birth length, OFC, weight were all reduced (-2 to -2.5SD).\r\nA zebrafish model has developmental defects. \nSources: Literature; to: HGNC recognised gene name: H4C4\r\nSingle individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from langauge delay and moderate ID, phenotypes included facial dysmorphisms and cochlear abnormalities and arhinencephaly on MRI. Hearing was normal. Birth length, OFC, weight were all reduced (-2 to -2.5SD).\r\nA zebrafish model has developmental defects. \r\nSources: Literature",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:02:46.500278+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4524",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:01:53.299443+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.192",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: AL117258.1 was added\ngene: AL117258.1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AL117258.1 were set to 34903892\nPhenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects\nReview for gene: AL117258.1 was set to GREEN\nAdded comment: Gene also known as CIROP and LMLN2\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy. \r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. \nSources: Literature",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:01:52.642718+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4523",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:01:52.632934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4523",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:01:22.385304+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to 28920961",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:57.305462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:29.656398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NRCAM as ready",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:29.640238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nrcam has been classified as Green List (High Evidence).",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:24.555759+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: CPSF3 was added\ngene: CPSF3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPSF3 were set to 35121750\nPhenotypes for gene: CPSF3 were set to Intellectual disability syndrome\nReview for gene: CPSF3 was set to GREEN\ngene: CPSF3 was marked as current diagnostic\nAdded comment: Study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes\r\n\r\nSix homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.\r\n\r\n- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.\r\n- Two of Mexican descent (p.Ile354Thr), first-degree cousins \nSources: Literature",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:09.209140+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NRCAM as Green List (high evidence)",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T12:00:09.197830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nrcam has been classified as Green List (High Evidence).",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:51.998171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11109",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \nSources: Literature; to: HGNC recognised gene: H4C5\r\n17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \r\nSources: Literature",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:41.475394+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NRCAM as Green List (high evidence)",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:41.445122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4520",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nrcam has been classified as Green List (High Evidence).",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:40.058067+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.13",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: AL117258.1 was added\ngene: AL117258.1 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AL117258.1 were set to 34903892\nPhenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects\nReview for gene: AL117258.1 was set to GREEN\nAdded comment: Gene also known as CIROP and LMLN2\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy.\r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. \nSources: Literature",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:37.711481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:31.656065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \nSources: Literature; to: HGNC recognised gene: H4C5\r\n17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \r\nSources: Literature",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:59:08.562513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to 28920961",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:58:48.762975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).\r\nA zebrafish model has developmental defects.; to: HGNC recognised gene: H4C3 \r\n6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).\r\nA zebrafish model has developmental defects.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:56.830451+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).\r\nA zebrafish model has developmental defects.; to: HGNC recognised gene name: H4C3\r\n6 additional individuals with ID and dev delay. All variants were de novo. Lys92 (Lys91 in H4 nomenclature) and Pro33 (Pro32) were the only variants identified. Additional phenotypes in some but not all patients included hypotonia, facial dysmorphisms, conductive hearing loss. Most had reduced birth length, OFC, weight (-1 to -2.5SD).\r\nA zebrafish model has developmental defects.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:23.390001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CPSF3 as ready",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:23.377054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:13.562009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AL117258.1 as ready",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:13.556920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is CIROP. Previous alias LMLN2.",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:13.486277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:11.199668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: Gene also known as CIROP\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy. \r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. \nSources: Literature; to: Gene also known as CIROP and LMLN2\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy. \r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. \r\nSources: Literature",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:57:03.266232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIST1H4E was added\ngene: HIST1H4E was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIST1H4E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4E were set to 35202563\nPhenotypes for gene: HIST1H4E were set to Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092\nReview for gene: HIST1H4E was set to GREEN\ngene: HIST1H4E was marked as current diagnostic\nAdded comment: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \nSources: Literature",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:56:36.349339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: NRCAM was added\ngene: NRCAM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRCAM were set to PMID: 35108495\nPhenotypes for gene: NRCAM were set to neurodevelopmental disorder, MONDO:0700092\nPenetrance for gene: NRCAM were set to unknown\nReview for gene: NRCAM was set to GREEN\ngene: NRCAM was marked as current diagnostic\nAdded comment: -Ten individuals from 8 families with developmental delay/intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity\r\n- Affected individuals are biallelic for missense and/or LoF variants which are mainly in the fibronectin type III (Fn-III) domain\r\n- Zebrafish mutants lacking the third Fn-III domain displayed significantly altered swimming behavior compared to wild-type larvae (p < 0.03) and a trend toward increased amounts of alpha-tubulin fibers in the dorsal telencephalon, demonstrating an alteration in white matter tracts and projections \nSources: Literature",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:56:21.200998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AL117258.1 were changed from Heterotaxy, congenital heart defects to Heterotaxy MONDO:0018677, congenital heart defects",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:56:03.363325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:55:55.461833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIST1H4D was added\ngene: HIST1H4D was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIST1H4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4D were set to 35202563\nPhenotypes for gene: HIST1H4D were set to Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092\nReview for gene: HIST1H4D was set to AMBER\ngene: HIST1H4D was marked as current diagnostic\nAdded comment: Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from langauge delay and moderate ID, phenotypes included facial dysmorphisms and cochlear abnormalities and arhinencephaly on MRI. Hearing was normal. Birth length, OFC, weight were all reduced (-2 to -2.5SD).\r\nA zebrafish model has developmental defects. \nSources: Literature",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:33.871760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11105",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CPSF3 as Green List (high evidence)",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:33.859831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11105",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cpsf3 has been classified as Green List (High Evidence).",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:24.823231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AL117258.1 as Green List (high evidence)",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:24.812391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: al117258.1 has been classified as Green List (High Evidence).",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:16.665346+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.100",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ZBTB7A was added\ngene: ZBTB7A was added to Macrocephaly_Megalencephaly. Sources: Expert list\nMode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7A were set to 34515416; 31645653\nPhenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)\nReview for gene: ZBTB7A was set to GREEN\nAdded comment: PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo.\r\n\r\nPMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea. \nSources: Expert list",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:54:15.297354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CRLS1 was added\ngene: CRLS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRLS1 were set to 35147173\nPhenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related\nAdded comment: - Three families (4 individuals) with cardiolipin deficiency.\r\n- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.\r\n- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.\r\n- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis \nSources: Literature",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:53:49.947608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: ZBTB7A was added\ngene: ZBTB7A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB7A were set to 34515416; 31645653\nPhenotypes for gene: ZBTB7A were set to Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)\nReview for gene: ZBTB7A was set to GREEN\nAdded comment: PMID: 34515416. Monoallelic ZBTB7A variants identified in 12 individuals from 11 families, with macrocephaly (11/12), some degree of ID (12/12), autistic features (7/12) and hypertrophy of pharyngeal lymphoid tissue (12/12). Variants included LoF variants and missense, 8 variants were de novo.\r\n\r\nPMID: 31645653. De novo ZBTB7A missense identified in a boy with macrocephaly, intellectual disability, and sleep apnea. \nSources: Expert list",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:53:46.470582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: AL117258.1.",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:53:32.866110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:53:02.262210+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.701",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CRLS1 was added\ngene: CRLS1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRLS1 were set to 35147173\nPhenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related\nAdded comment: - Three families (4 individuals) with cardiolipin deficiency.\r\n- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.\r\n- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.\r\n- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis \nSources: Literature",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:52:32.495529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4F as ready",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:52:32.463487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4f has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:52:31.918759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIST1H4E was added\ngene: HIST1H4E was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIST1H4E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4E were set to 35202563\nPhenotypes for gene: HIST1H4E were set to Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092\nReview for gene: HIST1H4E was set to GREEN\ngene: HIST1H4E was marked as current diagnostic\nAdded comment: 17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD).\r\nA zebrafish model has developmental defects. \nSources: Literature",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:51:52.600517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: HIST1H4D was added\ngene: HIST1H4D was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIST1H4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4D were set to 35202563\nPhenotypes for gene: HIST1H4D were set to Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092\nReview for gene: HIST1H4D was set to AMBER\ngene: HIST1H4D was marked as current diagnostic\nAdded comment: Single individual described with a de novo missense variant Arg41His (Arg40 in H4 nomenclature). Apart from language delay and moderate ID, phenotypes included facial dysmorphisms and cochlear abnormalities and arhinencephaly on MRI. Hearing was normal. Birth length, OFC, weight were all reduced (-2 to -2.5SD).\r\nA zebrafish model has developmental defects. \nSources: Literature",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:50:34.053344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C related MONDO:0700092",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:50:31.474395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4C: Changed phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder,HIST1H4C related MONDO:0700092",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:50:26.959479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4F was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:50:04.554952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4F were changed from Neurodevelopmental disorders to Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:50:00.783311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11101",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:49:42.079061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4F as Amber List (moderate evidence)",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:49:42.053923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4f has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:49:14.132461+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4F as ready",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:49:14.117885+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4f has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:48:43.280251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4F were changed from Neurodevelopmental disorders to Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:48:22.447792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11100",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, NRCAM-related, MONDO:0700092",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:47:27.569240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4F as Amber List (moderate evidence)",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:47:27.545108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4f has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:47:25.660881+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: HIST1H4F: Added comment: PMID: 35202563 - single de novo missense in a patient with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay. \r\n- zebrafish studies show a significant increase in all of mild dev delay, necrosis, defective organogenesis and pre-gastrulation failure \r\nSources: Literature; Changed rating: AMBER",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:46:31.345193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11099",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: CPSF3 was added\ngene: CPSF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPSF3 were set to 35121750\nPhenotypes for gene: CPSF3 were set to Intellectual disability syndrome\nReview for gene: CPSF3 was set to GREEN\nAdded comment: study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes\r\n\r\nSix homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone. \r\n\r\n- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.\r\n- Two of Mexican descent (p.Ile354Thr), first-degree cousins \nSources: Literature",
"entity_name": "CPSF3",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:46:28.112162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11099",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:35104841; Phenotypes: Intellectual developmental disorder, autosomal recessive 69 (MIM#618383), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:45:33.970801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:35104841; Phenotypes: Intellectual developmental disorder, autosomal recessive 69 (MIM#618383), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ZBTB11",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:45:16.095308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11099",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NRCAM as Green List (high evidence)",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:45:16.077400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11099",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nrcam has been classified as Green List (High Evidence).",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:44:08.388059+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A1 as ready",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:44:08.376966+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:43:59.018560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLS1 as ready",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:43:59.000002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:43:41.698474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRLS1 as Green List (high evidence)",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:43:41.689124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crls1 has been classified as Green List (High Evidence).",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:43:17.916491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLS1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:42:48.806404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: AL117258.1 was added\ngene: AL117258.1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AL117258.1 were set to 34903892\nPhenotypes for gene: AL117258.1 were set to Heterotaxy, congenital heart defects\nReview for gene: AL117258.1 was set to GREEN\nAdded comment: Gene also known as CIROP\r\n\r\nHomozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy. \r\n\r\nFunctional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. \nSources: Literature",
"entity_name": "AL117258.1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:42:11.887590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NAV2 as ready",
"entity_name": "NAV2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:42:11.881497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single reported individual. Functional studies and mouse model supportive evidence.",
"entity_name": "NAV2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:42:11.841386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nav2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAV2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:41:45.653789+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0A1 as Green List (high evidence)",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:41:45.639200+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:41:30.152061+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HIST1H4I from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-03T11:41:24.464651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: HIST1H4F was added\ngene: HIST1H4F was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIST1H4F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4F were set to PMID: 35202563\nPhenotypes for gene: HIST1H4F were set to Neurodevelopmental disorders\nReview for gene: HIST1H4F was set to AMBER\nAdded comment: PMID: 35202563 - single de novo missense in a patient with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay. \r\n- zebrafish studies show a significant increase in all of mild dev delay, necrosis, defective organogenesis and pre-gastrulation failure \nSources: Literature",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:41:21.715736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: HIST1H4F was added\ngene: HIST1H4F was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIST1H4F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: HIST1H4F were set to PMID: 35202563\nPhenotypes for gene: HIST1H4F were set to Neurodevelopmental disorders\nReview for gene: HIST1H4F was set to GREEN\nAdded comment: PMID: 35202563 - single de novo missense in a patient with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay. \r\n- zebrafish studies show a significant increase in all of mild dev delay, necrosis, defective organogenesis and pre-gastrulation failure \nSources: Literature",
"entity_name": "HIST1H4F",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:40:26.065646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4I as ready",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:40:26.054582+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4i has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:40:11.885383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4I were changed from Neurodevelopmental syndrome to Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:39:39.291794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4I as Green List (high evidence)",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:39:39.282046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4i has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:39:14.271475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NAV2 as Amber List (moderate evidence)",
"entity_name": "NAV2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:39:14.260459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11097",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nav2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAV2",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:38:32.740688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4I as ready",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:38:32.729594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4i has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:38:19.440197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4I were changed from Neurodevelopmental syndrome to Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:37:46.851048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11095",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: NRCAM was added\ngene: NRCAM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NRCAM were set to PMID: 35108495\nPhenotypes for gene: NRCAM were set to neurodevelopmental disorder, MONDO:0700092\nPenetrance for gene: NRCAM were set to unknown\nReview for gene: NRCAM was set to GREEN\ngene: NRCAM was marked as current diagnostic\nAdded comment: -Ten individuals from 8 families with developmental delay/intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity.\r\n- Affected individuals are biallelic for missense and/or LoF variants which are mainly in the fibronectin type III (Fn-III) domain\r\n- Zebrafish mutants lacking the third Fn-III domain displayed significantly altered swimming behavior compared to wild-type larvae (p < 0.03) and a trend toward increased amounts of alpha-tubulin fibers in the dorsal telencephalon, demonstrating an alteration in white matter tracts and projections \nSources: Literature",
"entity_name": "NRCAM",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:37:05.741465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4I was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:36:33.606174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4I as Green List (high evidence)",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:36:33.590869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4i has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4I",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:35:13.375116+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1459",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TIAM1 as Green List (high evidence)",
"entity_name": "TIAM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:35:13.365156+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1459",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tiam1 has been classified as Green List (High Evidence).",
"entity_name": "TIAM1",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:34:51.891498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB7A as ready",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:34:51.876198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb7a has been classified as Green List (High Evidence).",
"entity_name": "ZBTB7A",
"entity_type": "gene"
},
{
"created": "2022-03-03T11:34:40.991433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1458",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TIAM1 as Green List (high evidence)",
"entity_name": "TIAM1",
"entity_type": "gene"
}
]
}