HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=533",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=531",
"results": [
{
"created": "2023-11-02T12:46:51.949093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1340",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: CCDC66 was added\ngene: CCDC66 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC66 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC66 were set to PMID: 37852749\nReview for gene: CCDC66 was set to RED\nAdded comment: Nonsense variant (c.172C>T, p.Q58X) segregating in family with 5 affected members with high myopia (HM). Additionally, one family member with the variant displayed no symptoms, hinting at possible incomplete penetrance. Six other rare variants were identified in 200 sporadic high myopia patients that could potentially be linked to HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM. \nSources: Literature",
"entity_name": "CCDC66",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:43.724133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAN2B2 as Amber List (moderate evidence)",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:43.715913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:22.362493+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ELP1 as Red List (low evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:22.334891+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:14.045671+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder \nSources: Literature; to: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder. All missense variants\r\nSources: Literature",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:03.837455+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:46:03.806450+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:52.999663+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.20",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Red cell disorders. Sources: Literature\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to PMID: 37833059\nPhenotypes for gene: POLE were set to MONDO:0002254 syndromic disease\nReview for gene: POLE was set to RED\nAdded comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis. \nSources: Literature",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:44.772763+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:44.763342+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:28.413792+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.135",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder \nSources: Literature; to: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder. All missense variants\r\nSources: Literature",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:17.989451+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:17.978548+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:45:08.752908+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: ZEB1: Changed rating: AMBER",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:54.688003+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.63",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:54.675634+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.63",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:52.389133+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.189",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:52.350861+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.189",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:34.344518+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MIEF1 as Red List (low evidence)",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:34.343593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AGPAT3 as Green List (high evidence)",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:34.336188+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:34.316080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Green List (High Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:34.236719+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:28.275802+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:28.260586+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been removed from the panel.",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:15.281340+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.62",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:15.254744+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.62",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been removed from the panel.",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:12.938180+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:44:12.914193+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been removed from the panel.",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:57.021478+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MIEF1 as Red List (low evidence)",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:57.015324+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:56.840467+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.23",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:12.596574+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AGPAT3 as ready",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:12.580886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:11.405289+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MIEF1 as Red List (low evidence)",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:11.322078+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:11.005260+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.892",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:10.954728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AGPAT3 as Amber List (moderate evidence)",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:10.895502+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5605",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:10.466609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AGPAT3 as Amber List (moderate evidence)",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:10.437402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1339",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:08.705451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1339",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MIEF1 as Red List (low evidence)",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:08.692512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1339",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:08.581311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1339",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: mief1 has been classified as Red List (Low Evidence).",
"entity_name": "MIEF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:06.872486+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AGPAT3 as ready",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:06.793332+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:03.091452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AGPAT3 as ready",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:43:03.066646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been removed from the panel.",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:49.005325+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AGPAT3 as Amber List (moderate evidence)",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:48.932401+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agpat3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:28.905213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5604",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:28.829181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5604",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:28.821142+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.53",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to PMID: 37833059\nPhenotypes for gene: POLE were set to MONDO:0002254 syndromic disease\nReview for gene: POLE was set to RED\nAdded comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis. \nSources: Literature",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:26.726064+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PAK1 was added\ngene: PAK1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK1 were set to 37820543\nPhenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)\nReview for gene: PAK1 was set to GREEN\nAdded comment: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder \nSources: Literature",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:42:16.840144+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.135",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PAK1 was added\ngene: PAK1 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK1 were set to 37820543\nPhenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158)\nReview for gene: PAK1 was set to GREEN\nAdded comment: PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder \nSources: Literature",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:41:53.555638+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5604",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ELP1 as Red List (low evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:41:53.541895+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5604",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:41:18.275938+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: ZEB1: Changed publications: PMID: 37857482; Changed phenotypes: MIM# 609141, Corpus callosum abnormalities",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:40:48.625547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1338",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: SGSM3 was added\ngene: SGSM3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSM3 were set to PMID: 37833060\nPhenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related\nReview for gene: SGSM3 was set to AMBER\nAdded comment: PMID: 37833060\r\n- 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional prevalent phenotypes observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD. \nSources: Literature",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:39:50.724791+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:39:38.280962+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to 20237408; 35849269",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:59.519569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1338",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC23 were changed from Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related to Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:54.683338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1337",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: LRRC23 as ready",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:54.673813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1337",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lrrc23 has been classified as Red List (Low Evidence).",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:47.839718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1337",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC23 were changed from Non-syndromic male infertility due to sperm motility disorder MONDO:0017173 to Non-syndromic male infertility due to sperm motility disorder, (MONDO:0017173), LRRC23-related",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:23.598932+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to 20237408; 35849269",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:19.850607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1336",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: LRRC23 as Red List (low evidence)",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:19.838500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1336",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lrrc23 has been classified as Red List (Low Evidence).",
"entity_name": "LRRC23",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:38:08.617066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1335",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: AGPAT3 was added\ngene: AGPAT3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT3 were set to 37821758\nPhenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related\nReview for gene: AGPAT3 was set to GREEN\ngene: AGPAT3 was marked as current diagnostic\nAdded comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa\r\n- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant\r\n- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis\r\n- KO AGPAT3 mouse demonstrated impaired neuronal migration \nSources: Literature",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:37:48.878094+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to 20237408",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:37:37.430512+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.188",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to PMID: 37804319\nPhenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related\nReview for gene: MFN2 was set to AMBER\nAdded comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies. \nSources: Literature",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:37:32.966829+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5603",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa\r\n- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant\r\n- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis\r\n- KO AGPAT3 mouse demonstrated impaired neuronal migration \nSources: Literature; to: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa\r\n- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant\r\n- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis\r\n- KO AGPAT3 mouse demonstrated impaired neuronal migration \r\nSources: Literature",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:56.801551+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD81 as Green List (high evidence)",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:56.793151+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Green List (High Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:48.305275+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.62",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to PMID: 37804319\nPhenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related\nReview for gene: MFN2 was set to AMBER\nAdded comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies. \nSources: Literature",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:43.988873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1335",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: HEPHL1 was added\ngene: HEPHL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEPHL1 were set to PMID: 31125343; 31293895\nPhenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990)\nReview for gene: HEPHL1 was set to RED\nAdded comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype. \r\n\r\nPMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant (frame shifting single base insertion) in Hephl1. \nSources: Literature",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:27.031546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MFN2 as ready",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:27.019829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:21.694217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MFN2 as Amber List (moderate evidence)",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:21.683452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mfn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:19.367936+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD81: Added comment: PMID:35849269 - Second patient reported with compound heterozygous variants (c.67–1 G > T and p.D137Mfs*10). The major manifestation of this patient was IgA nephropathy with aberrant serum galactose-deficient IgA1 and not recurrent infections.; Changed rating: GREEN; Changed publications: 20237408, 35849269",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:17.473783+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5603",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SGSM3 as ready",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:17.461026+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5603",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: sgsm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:05.616629+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5603",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: SGSM3 as Amber List (moderate evidence)",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:36:05.561960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5603",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: sgsm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:35:43.630724+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.207",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: AGPAT3 was added\ngene: AGPAT3 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT3 were set to 37821758\nPhenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related\nReview for gene: AGPAT3 was set to GREEN\ngene: AGPAT3 was marked as current diagnostic\nAdded comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa\r\n- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant\r\n- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis\r\n- KO AGPAT3 mouse demonstrated impaired neuronal migration \nSources: Literature",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:35:43.257192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5602",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SGSM3.",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:34:23.637422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to 20237408",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:34:09.936419+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5602",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: SGSM3 was added\ngene: SGSM3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSM3 were set to PMID: 37833060\nPhenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related\nReview for gene: SGSM3 was set to GREEN\nAdded comment: PMID: 37833060\r\n- 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional prevalent phenotypes observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD. \nSources: Literature",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:34:06.199353+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.16",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to PMID: 37804319\nPhenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related\nReview for gene: MFN2 was set to AMBER\nAdded comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies. \nSources: Literature",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:33:13.825813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.160",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFN2 were set to PMID: 37804319\nPhenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related\nReview for gene: MFN2 was set to AMBER\nAdded comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies. \nSources: Literature",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:33:11.062490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DLG2 as ready",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:33:11.038277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:33:07.662881+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5602",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: AGPAT3 was added\ngene: AGPAT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT3 were set to PMID: 37821758\nPhenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related\nReview for gene: AGPAT3 was set to GREEN\ngene: AGPAT3 was marked as current diagnostic\nAdded comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa\r\n- All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant\r\n- Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis\r\n- KO AGPAT3 mouse demonstrated impaired neuronal migration \nSources: Literature",
"entity_name": "AGPAT3",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:33:00.100044+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.69",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: HEPHL1 was added\ngene: HEPHL1 was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEPHL1 were set to PMID: 31125343; 31293895\nPhenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990)\nReview for gene: HEPHL1 was set to RED\nAdded comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype. \r\n\r\nPMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant ( frame shifting single base insertion) in Hephl1. \nSources: Literature",
"entity_name": "HEPHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:58.275321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DLG2 as Amber List (moderate evidence)",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:58.262069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1334",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:49.960844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5602",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DLG2 as Amber List (moderate evidence)",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T12:32:49.946841+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5602",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dlg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DLG2",
"entity_type": "gene"
}
]
}