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"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=754",
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{
"created": "2022-09-19T07:34:10.512539+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:09.797098+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TARDBP was added\ngene: TARDBP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:09.213452+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:08.503337+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYT14 was added\ngene: SYT14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11",
"entity_name": "SYT14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:07.988605+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNE4 was added\ngene: SYNE4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYNE4 were set to Hearing loss",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:07.201246+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:06.698013+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST14 was added\ngene: ST14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:05.920052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:05.424864+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP7 was added\ngene: SP7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:04.700022+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:04.114730+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:03.403306+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:02.888588+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMO were set to Medulloblastoma",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:02.106366+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD9 was added\ngene: SMAD9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:01.513832+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD6 was added\ngene: SMAD6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:00.789924+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD1 was added\ngene: SMAD1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:34:00.208474+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLCO1B3 was added\ngene: SLCO1B3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:59.480502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLCO1B1 was added\ngene: SLCO1B1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:58.915845+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A3R1 was added\ngene: SLC9A3R1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:58.189943+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A2 was added\ngene: SLC6A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC6A2 were set to Orthostatic intolerance",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:57.615005+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:56.903195+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A10 was added\ngene: SLC4A10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:56.402135+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC41A1 was added\ngene: SLC41A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC41A1 were set to 23661805\nPhenotypes for gene: SLC41A1 were set to Nephronophthisis-like nephropathy 2, MIM# 619468",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:55.691264+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35C1 was added\ngene: SLC35C1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:55.107806+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:54.396696+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A1 was added\ngene: SLC35A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35A1 were set to CDG syndrome type IIf",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:53.893927+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC33A1 were set to Spastic paraplegia, autosomal dominant; Congenital cataracts, hearing loss and low serum copper and ceruloplasmin",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:53.188650+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC27A5 was added\ngene: SLC27A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC27A5 were set to Bile acid amidation defect",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:52.615991+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A22 was added\ngene: SLC25A22 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:51.909651+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A12 was added\ngene: SLC25A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:51.401474+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A12 was added\ngene: SLC16A12 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:50.318241+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to SLC16A1.\nSource BabySeq Category C gene was added to SLC16A1.\nAdded phenotypes Monocarboxylate transporter 1 deficiency for gene: SLC16A1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:49.510710+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A5 was added\ngene: SLC12A5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC12A5 were set to Febrile seizures",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:49.000452+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC11A2 was added\ngene: SLC11A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:48.292431+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX5 was added\ngene: SIX5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX5 were set to Branchiootorenal syndrome",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:47.792568+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX2 was added\ngene: SIX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX2 were set to Renal hypodysplasia",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:47.021181+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:46.519935+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3BP2 was added\ngene: SH3BP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SH3BP2 were set to Cherubism",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:45.800156+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPA2 was added\ngene: SFTPA2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:45.298970+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPIND1 was added\ngene: SERPIND1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:44.510944+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINC1 was added\ngene: SERPINC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:44.021588+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINB6 was added\ngene: SERPINB6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:43.299463+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEMA3A were set to Kallmann syndrome 1",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:42.798301+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC63 was added\ngene: SEC63 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEC63 were set to Polycystic liver disease",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:42.090921+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCP2 was added\ngene: SCP2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:41.594278+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:40.594645+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to SCNN1G.\nSource BabySeq Category C gene was added to SCNN1G.\nAdded phenotypes Pseudohypoaldosteronism for gene: SCNN1G\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:40.014491+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN4B was added\ngene: SCN4B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN4B were set to Long QT syndrome",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:39.015006+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to SCN4A.\nSource BabySeq Category A gene was added to SCN4A.\nSource BabySeq Category C gene was added to SCN4A.\nMode of inheritance for gene SCN4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis, type 2 for gene: SCN4A\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:38.110809+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN3B was added\ngene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN3B were set to Brugada syndrome",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:37.651097+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN2B was added\ngene: SCN2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN2B were set to Atrial fibrillation",
"entity_name": "SCN2B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:36.799499+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN1B were set to Brugada syndrome",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:36.297336+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SC5D was added\ngene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to Lathosterolosis",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:35.297572+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to RPS7.\nSource BabySeq Category C gene was added to RPS7.\nAdded phenotypes Diamond-Blackfan anemia for gene: RPS7\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:34.294713+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to RPS10.\nSource BabySeq Category C gene was added to RPS10.\nAdded phenotypes Diamond-Blackfan anemia for gene: RPS10\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:33.501233+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to RPL35A.\nSource BabySeq Category C gene was added to RPL35A.\nAdded phenotypes Diamond-Blackfan anemia for gene: RPL35A\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:32.709704+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHAG was added\ngene: RHAG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RHAG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RHAG were set to Rh-deficiency syndrome",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:32.212181+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:31.505496+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELN was added\ngene: RELN was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RELN were set to Lissencephaly syndrome",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:31.003600+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RANGRF was added\ngene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RANGRF were set to Brugada syndrome",
"entity_name": "RANGRF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:30.295102+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51B was added\ngene: RAD51B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD51B were set to Breast and/or ovarian cancer",
"entity_name": "RAD51B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:29.791917+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB10 was added\ngene: RAB10 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAB10 were set to Congenital heart disease",
"entity_name": "RAB10",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:29.014502+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSEN2 was added\ngene: PSEN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSEN2 were set to Alzheimer disease, type 4",
"entity_name": "PSEN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:28.493164+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSEN1 was added\ngene: PSEN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSEN1 were set to Alzheimer disease, type 3",
"entity_name": "PSEN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:27.497459+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to PSAT1.\nSource BabySeq Category C gene was added to PSAT1.\nAdded phenotypes Phosphoserine aminotransferase deficiency for gene: PSAT1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:26.615421+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRRX1 was added\ngene: PRRX1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:26.104794+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Charcot-Marie-Tooth disease; Arts syndrome",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:25.397720+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRODH was added\ngene: PRODH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRODH were set to Hyperprolinemia, type I",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:24.893371+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKCSH was added\ngene: PRKCSH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKCSH were set to Polycystic liver disease",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:24.115562+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic; Wolff-Parkinson-White syndrome; Glycogen storage disease of heart, lethal congenital",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:23.604851+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRICKLE1 was added\ngene: PRICKLE1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:22.637620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to PREPL.\nSource BabySeq Category C gene was added to PREPL.\nAdded phenotypes Hypotonia - cystinuria syndrome for gene: PREPL\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:22.118468+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM16 was added\ngene: PRDM16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRDM16 were set to Left ventricular noncompaction",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:21.395868+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPOX were set to Porphyria variegata",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:20.890024+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMC was added\ngene: POMC was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMC were set to Proopiomelanocortin deficiency",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:20.123445+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PODXL was added\ngene: PODXL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PODXL were set to Focal and segmental glomerulosclerosis",
"entity_name": "PODXL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:19.604824+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA1 was added\ngene: PNPLA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:18.813306+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMS2 were set to Lynch syndrome",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:18.314662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to Bruck syndrome",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:17.597708+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLN was added\ngene: PLN was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:17.021945+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHOX2A was added\ngene: PHOX2A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:16.307002+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKA1 was added\ngene: PHKA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHKA1 were set to Phosphorylase kinase deficiency",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:15.801797+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX19 was added\ngene: PEX19 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX19 were set to Zellweger syndrome",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:15.089861+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Zellweger syndrome",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:14.592869+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX14 was added\ngene: PEX14 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX14 were set to Zellweger syndrome",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:14.093600+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX11B was added\ngene: PEX11B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:13.099913+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to PDSS2.\nSource BabySeq Category C gene was added to PDSS2.\nAdded phenotypes Leigh syndrome with nephropathy and COQ10 deficiency for gene: PDSS2\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:12.105563+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to PDSS1.\nSource BabySeq Category C gene was added to PDSS1.\nAdded phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal for gene: PDSS1\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:11.314955+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDP1 was added\ngene: PDP1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:10.803337+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDLIM3 was added\ngene: PDLIM3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:10.300465+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE11A was added\ngene: PDE11A was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE11A were set to Adrenocortical hyperplasia",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:09.508145+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PABPN1 was added\ngene: PABPN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:09.010564+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P2RX2 was added\ngene: P2RX2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: P2RX2 were set to Hearing loss",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:08.306781+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD4 was added\ngene: OTUD4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: OTUD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTUD4 were set to Hypogonadotropic hypogonadism, ataxia & dementia",
"entity_name": "OTUD4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:07.820439+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOG was added\ngene: OTOG was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: OTOG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOG were set to Deafness, autosomal recessive",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:07.019839+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC6 was added\ngene: ORC6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to Meier-Gorlin syndrome",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:06.587645+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC4 was added\ngene: ORC4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC4 were set to Meier-Gorlin syndrome",
"entity_name": "ORC4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:05.830607+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA3 were set to Optic atrophy 3 with cataract; 3-methylglutaconic aciduria, type III",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:05.308884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:33:04.590686+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP155 was added\ngene: NUP155 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP155 were set to Atrial fibrillation",
"entity_name": "NUP155",
"entity_type": "gene"
}
]
}