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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=156",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=154",
"results": [
{
"created": "2025-10-06T17:26:57.202290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2I as ready",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:26:57.192230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2i has been classified as Green List (High Evidence).",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:26:51.841991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC3A as ready",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:26:51.834597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc3a has been classified as Red List (Low Evidence).",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:26:44.242709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUC3A was added\ngene: MUC3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related\nReview for gene: MUC3A was set to RED\nAdded comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals. \nSources: Literature",
"entity_name": "MUC3A",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:11:28.739768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Green List (high evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:11:28.732407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.429",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Green List (High Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:11:06.184880+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.333",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Green List (high evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:11:06.175304+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.333",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Green List (High Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:10:44.799073+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.332",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:10:09.975037+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.155",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Green List (high evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:10:09.965589+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.155",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Green List (High Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:09:07.891266+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.237",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Green List (high evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:09:07.881329+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.237",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Green List (High Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:08:43.969401+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.236",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:07:23.372944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: DMRT2: Added comment: PMID: 29681102 Bouman et al 2018 paper SH3PXD2B reviewed - not coding in canonical transcript, 4 homs in gnomAD v4. In summary, 2 unrelated individuals with severe skeletal dysplasia and other extra-skeletal features and one mouse model with severe skeletal dysplasia supporting Green classification.; Changed rating: GREEN",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:05:43.318740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature; to: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:05:29.188292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Green List (high evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T17:05:29.181057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3296",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Green List (High Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:29.298402+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:29.292021+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.154",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:14.102095+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.153",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:14.093598+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.153",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:05.334370+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.462",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:03.116322+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.332",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:55:03.103351+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.332",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:54:58.378162+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.152",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:54:58.368820+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.152",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:54:49.169931+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.462",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:53:27.161687+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.152",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT (non-functioning kidney at birth and bilateral duplicated kidney). \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:44.915607+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.236",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:44.906411+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.236",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:12.266134+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.235",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:12.256383+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.235",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:07.528471+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.234",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:49:07.520303+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.234",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:48:53.182863+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.234",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:48:35.632564+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.331",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:48:35.625919+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.331",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:48:30.038239+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.330",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:48:30.022122+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.330",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:47:45.944670+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.330",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:42:27.873920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.428",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:42:27.845930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.428",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:42:26.621074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.428",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:42:26.610943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.428",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:42:16.840551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.427",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Severe skeletal manifestations with respiratory insufficiency is the overlapping feature between the 2 unrelated patients reported and mouse model. \r\n\r\nPrenatal features included severe polyhydramnios, increased nuchal translucency, IUGR, fetal skeletal dysplasia. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:41:19.803796+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3295",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Fran Ter Haar syndrome which is also known to have skeletal features. The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature; to: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Frank-Ter Haar syndrome which is also known to have skeletal features including rarely respiratory failure leading to neonatal death (PMID: 31978614). The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \r\nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:33:14.148781+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.13",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:33:14.140875+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.13",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:33:12.185284+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.12",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:33:12.176783+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.12",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:32:52.055986+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.12",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: Severe skeletal manifestations is the overlapping feature between the 2 unrelated patients reported and the mouse model. PMID: 41014130 report one of the patients also had absence of TRECs suggestive of SCID on NBS wtih thymic aplasia. Laboratory tests showed profound lyphopenia, near absence of CD3+ T cells, low CD8+ and CD4+ T cells, expansion of B-cells and NK cells with elevation of several immunoglobulins. Patient developed severe CMV pneumonitis and bacterial infections leading to death at 3 months of age. \r\n\r\nHave included as Amber rather than Red for immunodeficiency given the rarity of cases overall for this skeletal dysplasia. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:21:01.761592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3295",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to skeletal dysplasia MONDO:0018230,DMRT2-related",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:20:04.716144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3294",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DMRT2 as ready",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:20:04.706202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3294",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:19:55.175572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3294",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DMRT2 as Amber List (moderate evidence)",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:19:55.165731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3294",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: dmrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T16:19:36.815411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3293",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DMRT2 was added\ngene: DMRT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292\nPhenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related\nReview for gene: DMRT2 was set to AMBER\nAdded comment: PMID: 41014130 Rips et al 2025 report a newborn of consanguineous non-AJ ancestry with severe costovertebral malformations, dysmorphism and homozygous LoF DMRT2 variant identified on singleton exome sequencing (no parental testing). The patient also had congenital heart disease, bilateral duplicated kidneys, cleft palate, inguinal hernias.This patient also had immunodeficiency with thymic aplasia, absence of TRECs on NBS, profound lymphopenia with death at 3 months of age from CMV pneumonitis. Prenatal features include severe polyhydramnios.\r\n\r\nPMID: 29681102 Bouman et al 2018 report a male neonate of consanguineous North African descent with thoracic vertebral anomalies, rib anomalies, dysmorphism and severe respiratory deficiency resulting in neonatal death at 9 days of age. Extra-skeletal anomalies included aberrate right subclavian artery, non-functional left kidney and tetehterd cord.Prenatal features included increased NT (8.0mm), scoliosis (15+4 weeks), IUGR/kyphoscoliosis/small thoracic cage (28+2 weeks). Trio WES identified a homozygous start-loss DMRT2 variant (c.1A>T p.Met1?) classified as a VUS. In addition, a homozygous canonical acceptor site variant in the non-canonical transcript was detected in SH3PXD2B associated with Fran Ter Haar syndrome which is also known to have skeletal features. The parents were heterozygous for both sets of variants and the unaffected sibling was homozygous wild-type.\r\n\r\nPMID: 16387892 Seo et al 2006 report a knockout mouse model with abnormal rib and sternal development, respiratory insufficiency.\r\n\r\nOverlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. However, one of the reported cases also had an alternative genomic finding relevant to skeletal issues. Other overlapping features observed in the 2 patients and not in the mouse include congenital heart defects and CAKUT. \nSources: Literature",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:41:29.175897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2I as Green List (high evidence)",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:41:29.169085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2i has been classified as Green List (High Evidence).",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:41:16.129083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2I was added\ngene: GTF2I was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GTF2I was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GTF2I were set to 40962490\nPhenotypes for gene: GTF2I were set to Neurodevelopmental disorder MONDO:0700092, GTF2I-related\nReview for gene: GTF2I was set to GREEN\nAdded comment: 7 individuals reported with de novo variants in this gene and a neurodevelopmental disorder. All but one of the variants are absent from gnomAD v4 (one het present for the indel variant). \nSources: Literature",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:39:12.861603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2I were changed from to Neurodevelopmental disorder MONDO:0700092, GTF2I-related",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:38:42.944185+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2I were set to ",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:38:19.222735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF2I was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:37:52.435876+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2I as Green List (high evidence)",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:37:52.424273+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2i has been classified as Green List (High Evidence).",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:37:22.741504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GTF2I: Added comment: 7 individuals reported with de novo variants in this gene and a neurodevelopmental disorder. All but one of the variants are absent from gnomAD v4 (one het present for the indel variant).; Changed rating: GREEN; Changed publications: 40962490; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF2I-relatedder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GTF2I",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:31:06.040874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBOX1 as ready",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:31:06.032710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:30:52.816968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBOX1 as Amber List (moderate evidence)",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:30:52.809798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:30:37.178681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBOX1 was added\ngene: BBOX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:29:14.166782+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBOX1 as ready",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:29:14.156134+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:29:06.331433+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBOX1 as Amber List (moderate evidence)",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:29:06.321544+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:28:07.602317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \nSources: Literature; to: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\nAll families consanguineous.\r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \r\nSources: Literature",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:24:46.141299+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBOX1 was added\ngene: BBOX1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:23:00.309730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBOX1 as ready",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:23:00.302342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:22:55.836211+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBOX1 as Amber List (moderate evidence)",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:22:55.828817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:22:26.905198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBOX1 was added\ngene: BBOX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BBOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBOX1 were set to 41022783\nPhenotypes for gene: BBOX1 were set to Carnitine deficiency, MONDO:0017716, BBOX1-related\nReview for gene: BBOX1 was set to AMBER\nAdded comment: Three individuals from two unrelated families reported, presenting with myopathy, neurodevelopmental delay, and later-onset psychiatric manifestations. C. elegans knockout and patient-variant models show embryonic lethality rescued by L‑carnitine supplementation \nSources: Literature",
"entity_name": "BBOX1",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:53.341180+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NDUFAF8 as Amber List (moderate evidence)",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:53.334736+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:27.621216+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.231",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: NDUFAF8 as Amber List (moderate evidence)",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:27.614209+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.231",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:21.776416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.230",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: NDUFAF8 as ready",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:20:21.767476+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.230",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ndufaf8 has been removed from the panel.",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:19:33.401634+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.230",
"user_name": "Anissa Johnson",
"item_type": "entity",
"text": "gene: NDUFAF8 was added\ngene: NDUFAF8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF8 were set to PMID: 31866046; https://doi.org/10.1212/WNL.000000000021206\nPhenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, MIM#618776; Leigh Syndrome MONDO:0009723\nReview for gene: NDUFAF8 was set to AMBER\nAdded comment: - Alston 2020: Reported 1 child (subject 1) with Leigh syndrome, who had hypsarrythmic electroencephalogram (EEG) and \"regular fleeting seizures\". They were compound heterozygous for c.45_52dup (p.Phe18Serfs*32) and c.195+271C>T (p.?), both inherited. \r\n- Sharma 2025: Abstract only. Aims to evaluate the presentation of infantile epileptic spasms syndrome (IESS) in primary mitochondrial disease (PMD). Mentions a single case of NDUFAF8 but specific patient information was not provided. \r\n- 1 VCGS internal patient who was homozygous for the deep intronic variant, c.195+271C>T, who presented with focal onset seizures and ID, who was also heterozygous for a likely pathogenic variant in SCN8A (paternally inherited). \nSources: Literature",
"entity_name": "NDUFAF8",
"entity_type": "gene"
},
{
"created": "2025-10-06T15:19:05.355329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: CPD was added\ngene: CPD was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPD were set to PMID: 41026541\nPhenotypes for gene: CPD were set to Nonsyndromic genetic hearing loss, MONDO:0019497, CPD-related\nReview for gene: CPD was set to GREEN\nAdded comment: CPD encodes carboxypeptidase D which is part of the metallocarboxylpeptidases family. These enzymes are zinc dependent and cleave c terminal arginine and lysine. Which in turn has a role in production of nitric oxide which is known to play role in the cochlea.\r\n\r\nPMID: 41026541 describes 5 individuals from 3 families with biallelic missense variants in CPD who have prelingual onset bilateral profound SNHL. No syndromic features were noted in affected probands.\r\nAll variants appropriately rare in gnomad v4 for a rare recessive disorder. \r\nNo homozygous loss of function variants in gene in gnomad v4. \r\n\r\nFunctional studies demonstrated reduction in nitric oxide levels in patient cells as well as increased apoptosis with rescue upon introduction on L arginine. Proposed mechanism of disease is loss of function. \r\nDrosophila studies demonstrated disrupted Johnston’s organ morphology and impaired auditory transduction with partial rescue by arginine. Other supportive functional models discussed in paper. \r\n\r\nAuthors suggest potential treatment of affected individuals with arginine supplementation. \nSources: Literature",
"entity_name": "CPD",
"entity_type": "gene"
},
{
"created": "2025-10-06T13:46:33.507909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30384889, 31227780, 32870709, 35838873, 32879264, 34036930, 23715556, 29540472, 35288587, 37461109, 30847666, 27471098, 23715556; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, Cardiomyopathy, dilated, 2E, MIM# 619492; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2025-10-06T09:56:48.602720+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHA1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:29:54.280636+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Green List (high evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:29:54.273842+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Green List (High Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:29:20.889120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Green List (high evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:29:20.885803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Biallelic cataract/cardiomyopathy association Amber & Monoallelic recurrent de novo progeroid syndrome association Green.",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:29:20.868454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Green List (High Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2025-10-06T08:27:56.302193+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LEMD2 was added\ngene: LEMD2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LEMD2 were set to 38757373; 37867468; 30905398\nPhenotypes for gene: LEMD2 were set to Marbach-Rustad progeroid syndrome MONDO:0859147\nReview for gene: LEMD2 was set to GREEN\nAdded comment: 4 unrelated cases with the recurrent de novo missense variant (c.1436C>Tp.Ser479Phe) and a progeroid syndrome phenotype. In vitro functional assays demonstrate abnormalities in the structure of the nuclear envelope in the tested tissues. \nSources: Literature",
"entity_name": "LEMD2",
"entity_type": "gene"
}
]
}