HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1502",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1500",
"results": [
{
"created": "2020-11-16T21:33:57.008447+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TYMP were set to PMID: 21933806; 30775048\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041\nAdded comment: Ophthalmoplegia is a common feature. \r\n\r\nage of onset range 5 months to 35 years); however, the majority of patients reported the first symptoms before the age of 12 years.\r\n\r\nGarone 2011: 92 patients with biallelic variants \nSources: Literature",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-11-16T19:33:02.460158+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: MYH2 was added\ngene: MYH2 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYH2 were set to PMID 24193343; 32578970; 11114175; 23489661\nAdded comment: childhood consent ophthalmoplegia and progressive proximal limb weakness. Either slowly progressive or non-progressive. \r\n\r\n> 10 families reported with balletic variants \r\nmonoallelic variants: two missense variants reported \nSources: Literature",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2020-11-16T19:25:49.050716+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450\nReview for gene: POLG was set to GREEN\nAdded comment: Well established gene-disease associaition. Variable age of onset of ophthalmoplegia, including infancy and early childhood. \nSources: Literature",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-11-16T19:10:42.917780+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia 255320\nReview for gene: RYR1 was set to GREEN\nAdded comment: ophthalmoplegia is a common features. Also presents with congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, \nSources: Literature",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:24:12.356979+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:24:12.348546+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:24:08.497032+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNE as Green List (high evidence)",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:24:08.485923+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:23:58.359116+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNE was added\ngene: CHRNE was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, MIM#\t616324\nReview for gene: CHRNE was set to GREEN\nAdded comment: Ophthalmoplegia is a feature. \nSources: Expert list",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:15:45.689114+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:15:45.681143+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:15:42.292752+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNB1 as Green List (high evidence)",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:15:42.281659+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:15:33.397425+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHRNB1 was added\ngene: CHRNB1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, MIM#\t616313\nReview for gene: CHRNB1 was set to GREEN\nAdded comment: Ophthalmoplegia is a feature. \nSources: Expert list",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:08:47.038718+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFF as ready",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:08:47.027153+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Green List (High Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:08:43.233330+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFF as Green List (high evidence)",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:08:43.223279+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mff has been classified as Green List (High Evidence).",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:08:33.921666+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFF was added\ngene: MFF was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFF were set to 26783368\nPhenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM#\t617086\nReview for gene: MFF was set to GREEN\nAdded comment: Ophthalmoplegia is a feature along with severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. \nSources: Expert list",
"entity_name": "MFF",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:00:58.146577+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUSK as ready",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:00:58.135689+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: musk has been classified as Green List (High Evidence).",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:00:54.317259+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MUSK as Green List (high evidence)",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:00:54.302578+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: musk has been classified as Green List (High Evidence).",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2020-11-16T16:00:44.644040+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUSK was added\ngene: MUSK was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM#\t616325\nReview for gene: MUSK was set to GREEN\nAdded comment: Ophthalmoplegia is a feature. \nSources: Expert list",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:57:01.403936+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:57:01.394987+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:53:18.548484+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFV1 as Green List (high evidence)",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:53:18.537375+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:53:09.320911+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFV1 was added\ngene: NDUFV1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, MIM#\t618225\nReview for gene: NDUFV1 was set to GREEN\nAdded comment: Ophthalmoplegia is a reported feature. \nSources: Expert list",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:41:38.378574+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTM1 as ready",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:41:38.367049+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Green List (High Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:41:34.909221+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTM1 as Green List (high evidence)",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:41:34.895938+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Green List (High Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:41:26.130891+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, MIM#\t310400\nReview for gene: MTM1 was set to GREEN\nAdded comment: External ophthalmoplegia is a prominent feature. \nSources: Expert list",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:25:02.446538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. \nSources: Literature; to: A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. \r\nSources: Literature",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:13:34.616364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LRIF1 as Amber List (moderate evidence)",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:13:34.606147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lrif1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2020-11-16T15:06:08.363211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRIF1 was added\ngene: LRIF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRIF1 were set to 32467133\nPhenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy\nReview for gene: LRIF1 was set to AMBER\nAdded comment: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. \nSources: Literature",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2020-11-15T11:52:39.915843+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH8 were changed from Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-11-15T11:51:27.880278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH8 were changed from Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-11-15T11:51:01.512307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAH8: Changed phenotypes: Spermatogenic failure 46, MIM#619095, Asthenozoospermia, primary ciliary dyskinesia",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2020-11-15T08:16:07.507213+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C16orf62.",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:59:13.104450+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRRAP as ready",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:59:13.093875+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trrap has been classified as Red List (Low Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:58:14.119009+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRRAP was added\ngene: TRRAP was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRRAP were set to 30827496\nPhenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM#\t618454\nReview for gene: TRRAP was set to RED\nAdded comment: Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable.\r\n\r\nOne of 13 individuals had CDH in PMID 30827496. \nSources: Expert list",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:48:09.827226+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP2 as ready",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:48:09.811616+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:48:03.758974+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFEMP2 as Green List (high evidence)",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:48:03.751157+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:47:34.729929+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFEMP2 were set to 30140196; 21563328\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, MIM#\t614437\nReview for gene: EFEMP2 was set to GREEN\nAdded comment: Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.\r\n\r\nDiaphragmatic hypoplasia and hernia are features in 25-90%. \nSources: Expert list",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:33:47.750966+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:33:47.741442+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: XLD.",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:33:47.662201+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:33:36.780032+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:33:08.547699+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PORCN were set to ",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:32:40.410358+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PORCN was changed from Unknown to Other",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:32:10.662234+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25026905; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: Other",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:26:16.628677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYRF were changed from Nanophthalmos; High hyperopia to Nanophthalmos and high hyperopia; Cardiac-urogenital syndrome, MIM# 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:26:03.324624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:25:37.246515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYRF: Added comment: Association with Encephalitis/encephalopathy, mild, with reversible myelin vacuolization\t618113: limited evidence, two multiplex families with same missense variant (likely founder effect) reported (p.Gln403Arg); Changed publications: 31048900, 31172260, 31266062, 31700225, 29446546, 29446546, 30532227, 31069960, 29265453; Changed phenotypes: Nanophthalmos and high hyperopia, Cardiac-urogenital syndrome, MIM# 618280, Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:22:33.384556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.; to: Cardiac-urogenital syndrome MIM# 618280 is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:22:18.386592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYRF: Added comment: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported.; Changed publications: 31048900, 31172260, 31266062, 31700225, 29446546, 29446546, 30532227, 31069960; Changed phenotypes: Nanophthalmos and high hyperopia, Cardiac-urogenital syndrome, MIM# 618280",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:21:42.261342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals reported. \nSources: Expert list; to: Multiple affected individuals reported with nanophthalmos and high hyperopia and C-terminal frameshift variants, with or without dextrocardia or congenital diaphragmatic hernia.\r\nSources: Expert list",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:15:39.000428+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYRF as ready",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:15:38.991879+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myrf has been classified as Green List (High Evidence).",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:15:32.035078+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYRF as Green List (high evidence)",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:15:32.027756+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myrf has been classified as Green List (High Evidence).",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:14:52.479467+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYRF was added\ngene: MYRF was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYRF were set to 29446546; 29446546; 30532227; 31069960\nPhenotypes for gene: MYRF were set to Cardiac-urogenital syndrome, MIM#\t618280\nReview for gene: MYRF was set to GREEN\nAdded comment: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.\r\n\r\nMore than 10 unrelated individuals reported. \nSources: Expert list",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:10:21.938024+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F2 as ready",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:10:21.930280+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:10:08.695262+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2F2 as Green List (high evidence)",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:10:08.684691+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:09:38.748122+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR2F2 was added\ngene: NR2F2 was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F2 were set to 29570242; 29966037; 27363585\nPhenotypes for gene: NR2F2 were set to Congenital heart defects, multiple types, 4, MIM#\t615779\nReview for gene: NR2F2 was set to GREEN\nAdded comment: The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported. Some exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastro-oesophageal reflux.\r\n\r\nCDH reported in more than 3 unrelated individuals. \nSources: Expert list",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:05:35.430279+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:05:35.419076+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:05:31.812134+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA6 as Green List (high evidence)",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:05:31.804676+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T17:04:51.098202+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA6 were set to 31301121\nPhenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, MIM#\t600001\nReview for gene: GATA6 was set to GREEN\nAdded comment: Recent review of 78 published cases: most common phenotypes were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Approximately half were inherited, variable expressivity. \nSources: Expert list",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-11-14T15:01:47.013794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RLIM as ready",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T15:01:46.993880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T15:00:51.063986+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RLIM were changed from to Tonne-Kalscheuer syndrome, MIM# 300978",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T15:00:17.787011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RLIM were set to ",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:59:46.301953+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RLIM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:59:10.779968+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, MIM# 300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:58:18.495455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RLIM as ready",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:58:18.487003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:58:05.310316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RLIM were changed from to Tonne-Kalscheuer syndrome, MIM# 300978",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:57:45.278270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RLIM were set to ",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:57:24.672344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RLIM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:57:05.055238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, MIM# 300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:56:02.255895+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RLIM as ready",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:56:02.239521+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:55:55.362893+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RLIM as Green List (high evidence)",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:55:55.352862+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rlim has been classified as Green List (High Evidence).",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:55:26.679744+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RLIM was added\ngene: RLIM was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RLIM were set to 29728705; 25735484; 25644381\nPhenotypes for gene: RLIM were set to Tonne-Kalscheuer syndrome, MIM#\t300978\nReview for gene: RLIM was set to GREEN\nAdded comment: Eight unrelated families and a zebrafish model.\r\n\r\nMost individuals exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioural abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities \nSources: Expert list",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:48:04.954791+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:48:04.945819+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Green List (High Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:48:01.490883+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARB as Green List (high evidence)",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:48:01.480416+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Green List (High Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-11-14T14:47:32.305335+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to Congenital diaphragmatic hernia. Sources: Expert list\nMode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RARB were set to 24075189; 22686418\nPhenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM#\t615524\nReview for gene: RARB was set to GREEN\nAdded comment: Both mono allelic and bi-allelic variants associated with bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia. \nSources: Expert list",
"entity_name": "RARB",
"entity_type": "gene"
}
]
}