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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=189",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=187",
"results": [
{
"created": "2025-08-15T09:23:05.403825+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.217",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:22:47.484848+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lichtenstein-Knorr syndrome MONDO:0014572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:22:03.621222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2833",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC9A1 as Green List (high evidence)",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:22:03.610722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2833",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:22:02.715315+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC9A1 as Green List (high evidence)",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:22:02.704394+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.44",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc9a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:21:45.498263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lichtenstein-Knorr syndrome MONDO:0014572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:21:41.524606+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lichtenstein-Knorr syndrome MONDO:0014572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC9A1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:13:33.183891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "commented on gene: PSMB10",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:13:24.732056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:12:59.733606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PSMB10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:08:47.346845+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ESRP1 as Red List (low evidence)",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:08:47.336671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2832",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: esrp1 has been classified as Red List (Low Evidence).",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:08:33.518116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2831",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ESRP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:08:06.178567+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ESRP1 as Red List (low evidence)",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:08:06.167624+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.216",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: esrp1 has been classified as Red List (Low Evidence).",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:07:46.981529+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.215",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ESRP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2025-08-15T09:05:11.067228+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.90",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519\nReview for gene: NHP2 was set to RED\nAdded comment: ClinGen 'limited' classification.\r\n\r\nNHP2 ribonucleoprotein (NHP2) was first reported in relation to autosomal recessive dyskeratosis congenita in 2008 (Vulliamy et al., PMID 18523010). NHP2 biallelic variant carriers present with features common to other monogenic telomere biology disorders (TBD) like: oral leukoplakia, reticular skin pigmentation, nail dystrophy, bone marrow failure, intellectual disability, and short telomeres. Variation in other telomere related genes like TERT and TERC have been shown to be related to interstitial lung disease (ILD), but to date ILD has not been observed for this gene-disease entity (PMID 38718684). Seven variants (6 missense, and 1 stop-loss extension) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data from 3 different publications describing a total of 4 probands with ages of onset being reported in both childhood and adulthood. Additionally, 4 families have been reported with heterozygous variant carriers that have presented with features consistent with TBD. The ClinGen Interstitial Lung Disease GCEP has decided to exclude heterozygous cases from this curation due to high population frequencies and/or lack of sufficient detail regarding genotyping. If, however, more convincing data of autosomal dominant inheritance becomes available, the curated entity and classification will be revisited. This gene-disease relationship is supported by protein interaction data, a yeast model and functional alteration in non-patient cells; PMID 11160879, 11074001, 37440454). Experimental data demonstrated that variant NHP2 is related to a decrease in the expression of TERC, and that expression of variant NHP2 and interaction with NOP10 and DKC1 were reduced. The mechanism is unclear but thought to be LOF. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Interstitial Lung Disease GCEP on the meeting date April 15, 2025 (SOP 11). This gene-disease pair was originally evaluated by the General GCEP on June 1, 2017. It was reevaluated on August 1, 2025. Although additional case and experimental evidence (PMIDs: 37440454, 31985013) was published, the classification did not change. \nSources: Expert Review",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2025-08-15T08:01:27.871134+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: JPH2 as Green List (high evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-08-15T08:01:27.863790+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Green List (High Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-08-15T08:01:06.810074+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:53:57.311317+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC25A4 as Green List (high evidence)",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:53:57.300600+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:53:41.365049+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC25A4 as Green List (high evidence)",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:53:41.354041+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:53:17.400606+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MONDO:0014175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:49:30.148699+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FXN as Green List (high evidence)",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:49:30.136336+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2025-08-15T07:49:11.553417+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:43:26.949838+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL2 as ready",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:43:26.938543+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:43:24.262144+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Cardiomyopathy, hypertrophic, 10, MIM# 608758",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:43:09.634338+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:56.450626+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:56.439486+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Red List (Low Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:53.342260+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:40.326217+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNA as Red List (low evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:40.315896+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Red List (Low Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T15:26:29.913569+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: None",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:35.321836+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRIT1 as ready",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:35.315180+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Red List (Low Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:32.154564+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:14.221850+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRIT1 as Red List (low evidence)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:14.211696+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Red List (Low Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T14:53:04.801357+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations-1 MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:21:25.375320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IGKC as Amber List (moderate evidence)",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:21:25.370223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene does not have a NCBI transcript, therefore variants in this gene may not be annotated by some curation tools",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:21:25.343477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2831",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: igkc has been classified as Amber List (Moderate Evidence).",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:20:19.147195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2830",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: IGKC.",
"entity_name": "IGKC",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:18:20.110288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2830",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRU-TCA1-1 as Amber List (moderate evidence)",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:18:20.105208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2830",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene does not have an NCBI transcript, therefore some curation tools will not annotate variants in this gene.",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:18:20.062231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2830",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:17:33.786267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2829",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: TRU-TCA1-1.",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:15:32.162360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2829",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IGHM as Green List (high evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:15:32.159551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2829",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene does not have an NCBI transcript, so it may have annotation issues in some curation tools",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:15:32.136789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2829",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-08-14T13:14:45.349908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2828",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag technically challenging tag was added to gene: IGHM.",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:50.914092+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE1 as ready",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:50.904134+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:44.698656+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5; Jervell and Lange-Nielsen syndrome to Long QT syndrome 5, MIM# 613695",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:24.647742+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE1 as Red List (low evidence)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:24.637188+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:58:13.942339+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 5, MIM# 613695; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:53:16.232604+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPD1L as ready",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:53:16.222721+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Red List (Low Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:53:14.033976+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPD1L were changed from Brugada syndrome to Brugada syndrome 2, MIM# 611777",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:53:04.370730+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPD1L as Red List (low evidence)",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:53:04.359896+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Red List (Low Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:52:56.055327+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brugada syndrome 2, MIM# 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:49.720923+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA5 as ready",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:49.710598+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Red List (Low Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:47.328585+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 11, MIM# 614049",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:33.248888+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJA5 as Red List (low evidence)",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:33.238309+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja5 has been classified as Red List (Low Evidence).",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:51:21.268153+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:47:02.397859+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:47:02.387035+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Red List (Low Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:46:59.859257+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DES were changed from Myopathy, myofibrillar; Cardiomyopathy, dilated to Cardiomyopathy, dilated, 1I, MIM# 604765",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:46:49.185052+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DES as Red List (low evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:46:49.169130+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Red List (Low Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:46:39.122332+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:45:16.355621+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAB as ready",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:45:16.348807+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryab has been classified as Red List (Low Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:45:10.620094+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from Myofibrillar myopathy; Cardiomyopathy, dilated to Cardiomyopathy, dilated, 1II MIM#615184",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:44:55.093270+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRYAB as Red List (low evidence)",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:44:55.082299+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryab has been classified as Red List (Low Evidence).",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:44:44.426210+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:37:56.361139+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:37:56.350614+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2025-08-14T11:37:40.539019+10:00",
"panel_name": "Genomic newborn screening: BabyScreen+",
"panel_id": 3931,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 8, MIM# 618447, Timothy syndrome, MIM# 601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:51:06.617788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RC3H1 were changed from Hemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998 to Haemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:45:59.474552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RC3H1 were changed from Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998 to Hemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:45:42.721858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RC3H1 were set to 31636267",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:45:24.134117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RC3H1: Added comment: PMID 40769319: 3 individuals (heterozygous c.T674C (p.F225S)) from an extended kindred presenting with a spectrum of infections, lymphoproliferation, and autoimmune manifestations (upper respiratory infections, otitis media, sinusitis, abscess formation, pneumonia, and bacteremia, psoriasis, cytopenias, and liver disease. hyper-inflammation and lymphoproliferation manifesting with exaggerated generalized lymphadenopathy and splenomegaly. Transfected cell model provided functional support.\r\n\r\nRED for mono-allelic association, single family.; Changed publications: 31636267, 15917799, 40769319; Changed phenotypes: Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:44:20.611877+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RC3H1 as ready",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:44:20.605055+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Red List (Low Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:44:17.657256+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RC3H1 were changed from to Inborn error of immunity, MONDO:0003778, RC3H1-related",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:43:19.970301+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RC3H1 as Red List (low evidence)",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:43:19.958480+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Red List (Low Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:42:59.433752+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RC3H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, RC3H1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RC3H1",
"entity_type": "gene"
}
]
}