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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1229",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1227",
"results": [
{
"created": "2021-08-21T12:49:22.515545+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:49:12.164418+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:56.303464+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:56.293168+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:54.102980+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from Rubenstein Taybi to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:46.549987+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREBBP were set to ",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:38.550361+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREBBP as Green List (high evidence)",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:38.539560+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:29.881805+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699051, 17855048, 27311832, 29460469; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:08.717358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:44:08.708802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:43:41.172397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:40.854863+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:40.845688+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:36.412030+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from SGA, which is sometimes called intrauterine growth restriction (IUGR), to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:26.302789+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATRX were set to ",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:18.797128+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:12.113822+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRX as Green List (high evidence)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:12.103894+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-21T12:42:04.267336+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301622; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:44:28.298307+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB24 as ready",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:44:28.288425+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:44:22.930229+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB24 as Green List (high evidence)",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:44:22.919872+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb24 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:44:13.660184+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB24 was added\ngene: ZBTB24 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB24 were set to 21596365; 21906047; 23486536\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM#\t614069; MONDO:0013553\nReview for gene: ZBTB24 was set to GREEN\nAdded comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.\r\n\r\n20 unrelated families reported. Short stature is a feature. \nSources: Expert Review",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:42:37.740703+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRTN as ready",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:42:37.723059+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Green List (High Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:42:33.507633+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRTN as Green List (high evidence)",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:42:33.498266+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Green List (High Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:42:25.749075+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRTN was added\ngene: SPRTN was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRTN were set to 25261934\nPhenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527\nReview for gene: SPRTN was set to GREEN\nAdded comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features, as is short stature. \nSources: Expert Review",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:40:19.380787+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF168 as ready",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:40:19.371082+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:40:15.854393+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF168 as Green List (high evidence)",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:40:15.845486+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:40:06.500386+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF168 was added\ngene: RNF168 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324\nPhenotypes for gene: RNF168 were set to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly\nReview for gene: RNF168 was set to GREEN\nAdded comment: 4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.\r\n\r\nOne mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.\r\n\r\nHomozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.\r\n\r\nTypically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature. \nSources: Expert Review",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:38:15.987336+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:38:15.978092+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:38:12.397866+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RECQL4 as Green List (high evidence)",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:38:12.388137+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:38:04.528107+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 10319867; 12952869; 15964893\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600\nReview for gene: RECQL4 was set to GREEN\nAdded comment: Gene encodes DNA helicase involved in DNA repair. Bi-allelic variants associated with a range of phenotypes. Short stature is a feature of these disorders. \nSources: Expert Review",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:35:49.524361+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51C as ready",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:35:49.515499+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:35:44.661947+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51C as Green List (high evidence)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:35:44.653037+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:35:36.194337+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD51C were set to 20400963; 29278735\nPhenotypes for gene: RAD51C were set to Fanconi anaemia, complementation group O, MIM# 613390\nReview for gene: RAD51C was set to GREEN\nAdded comment: Two unrelated families reported, excellent biological candidate for FA. \nSources: Expert Review",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:34:34.024890+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51 as ready",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:34:34.013924+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Green List (High Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:34:29.897139+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51 as Green List (high evidence)",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:34:29.887347+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51 has been classified as Green List (High Evidence).",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:34:21.652803+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51 was added\ngene: RAD51 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD51 were set to 26253028; 26681308; 30907510\nPhenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244\nReview for gene: RAD51 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo missense variants in this gene. \nSources: Expert Review",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:31:27.922287+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:31:27.911325+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:31:24.450139+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD50 as Green List (high evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:31:24.439274+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:31:16.065634+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD50 was added\ngene: RAD50 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD50 were set to 19409520; 32212377; 33378670\nPhenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118\nReview for gene: RAD50 was set to GREEN\nAdded comment: Three unrelated families reported, short stature is a key feature. \nSources: Expert Review",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:29:35.178053+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHEJ1 as ready",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:29:35.167622+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Green List (High Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:29:31.455533+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHEJ1 as Green List (high evidence)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:29:31.444882+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhej1 has been classified as Green List (High Evidence).",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:29:18.112374+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHEJ1 was added\ngene: NHEJ1 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHEJ1 were set to 16439204; 16439205\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650\nReview for gene: NHEJ1 was set to GREEN\nAdded comment: More than 5 unrelated families reported, poor growth is a key feature. \nSources: Expert Review",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:27:52.342825+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPLKIP as ready",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:27:52.330003+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Green List (High Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:27:48.206717+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPLKIP as Green List (high evidence)",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:27:48.195260+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mplkip has been classified as Green List (High Evidence).",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:27:39.658993+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Growth failure in early childhood. Sources: Expert list\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPLKIP were set to 15645389; 16977596\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013\nReview for gene: MPLKIP was set to GREEN\nAdded comment: Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.\r\n\r\nGene previously known as c7orf11.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:26:17.388552+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:26:17.377416+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:26:12.733755+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2H5 as Green List (high evidence)",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:26:12.723024+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:26:03.894082+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 15220921; 30359777; 24986372\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619\nReview for gene: GTF2H5 was set to GREEN\nAdded comment: Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.\r\n\r\nEstablished gene-disease association, at least 5 families reported. \nSources: Expert Review",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:23:52.473318+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:23:52.462573+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:23:44.932575+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Green List (high evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:23:44.921990+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Green List (High Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:23:28.180194+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 7951246; 9096355; 9096355; 24700531; 33766032; 33219753\nPhenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216\nReview for gene: ERCC5 was set to GREEN\nAdded comment: Well established gene-disease association, spectrum of severity. Poor growth is a feature of COFS but is also present in some individuals with xeroderma pigmentosa. \nSources: Expert Review",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:18:31.713557+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:18:31.703777+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:18:24.392703+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC3 as Green List (high evidence)",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:18:24.382875+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:18:16.351073+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651\nReview for gene: ERCC3 was set to GREEN\nAdded comment: Nucleotide excision repair disorder, variable severity, short stature associated with both disorders. \nSources: Expert Review",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:10:59.721675+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:10:59.708428+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:10:53.037701+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC2 as Green List (high evidence)",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:10:53.024368+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:10:43.766442+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675\nReview for gene: ERCC2 was set to GREEN\nAdded comment: Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, of which photosensitive trichothiodystrophy and cerebro-oculo-facio-skeletal syndrome have short stature as a feature. \nSources: Expert Review",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:06:54.611562+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3B as ready",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:06:54.601016+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:06:46.587468+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNMT3B as Green List (high evidence)",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:06:46.577066+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:06:37.406138+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3B was added\ngene: DNMT3B was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMT3B were set to 10647011; 23486536\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM#\t242860\nReview for gene: DNMT3B was set to GREEN\nAdded comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes.\r\n\r\nMore than 20 unrelated families reported.\r\n\r\nShort stature is a feature. \nSources: Expert Review",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:04:42.370499+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:04:42.358509+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:04:18.715673+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX11 as Green List (high evidence)",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:04:18.706059+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-08-20T17:04:10.588144+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Growth failure in early childhood. Sources: Expert Review\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX11 were set to 20137776; 23033317; 30216658\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252\nReview for gene: DDX11 was set to GREEN\nAdded comment: PMID 30216658 reviews 12 individuals reported to date: severe microcephaly with prenatal onset was identified in all patients, and severe pre- and postnatal growth restriction was observed in 11 of 11 patients. All 12 patients had sensorineural hearing loss, with 10 of 10 having cochlear hypoplasia or functional abnormalities; 1 patient had a posterior labyrinthine anomaly. In all 4 patients who had brain imaging, abnormalities were identified. Some patients had other structural anomalies, including cardiac defects (5/12), recurrent infections (4/9), and skin pigmentation changes (6/12). Craniofacial features included a depressed nasal bridge with a broad nasal tip and overhanging columella. Elevated induced chromosome breakage was observed in 6 of 8 reported patients. Cohesin defects (premature chromatid separation and premature centromere division) were consistent in most metaphases among the patients examined. \nSources: Expert Review",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:20:41.725917+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:20:41.715970+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:20:37.465929+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:20:37.455900+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2021-08-20T16:20:29.420735+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Growth failure in early childhood. Sources: Expert list\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865\nPhenotypes for gene: BRCA1 were set to Fanconi anaemia, complementation group S, MIM#\t617883\nReview for gene: BRCA1 was set to GREEN\nAdded comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype. Short stature is a feature. \nSources: Expert list",
"entity_name": "BRCA1",
"entity_type": "gene"
}
]
}