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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=149",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=147",
"results": [
{
"created": "2025-10-16T17:47:21.464825+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM# 614820 to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 22850527, 24842602,15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 22850527, 24842602,15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:48.271931+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235 to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:48.252781+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.397",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235 to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:37.873501+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.253",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:30.474336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3403",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235; Polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:22.025755+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.587",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nMode of inheritance for gene ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A3 were changed from to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:46:20.524647+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.364",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2, MIM#614820; Developmental and epileptic encephalopathy, polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:45:57.461316+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.144",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Royal Children's Hospital Neurology Department was removed from ATP1A3.\nSource Victorian Clinical Genetics Services was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nMode of inheritance for gene ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A3 were changed from to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:45:16.064283+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338 to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:44:49.099577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.442",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genomics England PanelApp was removed from ATP1A3.\nSource Literature was removed from ATP1A3.\nSource Genetic Health Queensland was removed from ATP1A3.\nSource Expert list was added to ATP1A3.\nPhenotypes for gene: ATP1A3 were changed from Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002\nPublications for gene ATP1A3 were changed from 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 15260953, 22842232, 24468074, 33762331, 29861155, 31425744",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:29:38.799643+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.363",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from ALS2.\nSource ClinGen was added to ALS2.\nPhenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, MIM#607225 to ALS2-related motor neuron disease, MONDO:0100227",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:28:49.600543+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from ALS2.\nSource Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from ALS2.\nSource Victorian Clinical Genetics Services was removed from ALS2.\nSource ClinGen was added to ALS2.\nPhenotypes for gene: ALS2 were changed from Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780) to ALS2-related motor neuron disease, MONDO:0100227\nPublications for gene ALS2 were changed from 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 to 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:28:49.594867+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.396",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, MIM#\t607225 to ALS2-related motor neuron disease, MONDO:0100227\nPublications for gene ALS2 were changed from 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 to 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:28:41.251276+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.101",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Royal Melbourne Hospital was removed from ALS2.\nSource ClinGen was added to ALS2.\nPhenotypes for gene: ALS2 were changed from Spastic paralysis, infantile onset ascending, MIM# 607225 to ALS2-related motor neuron disease, MONDO:0100227\nPublications for gene ALS2 were changed from 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 to 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:28:32.974327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3402",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from ALS2.\nSource ClinGen was added to ALS2.\nPhenotypes for gene: ALS2 were changed from Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353) to ALS2-related motor neuron disease, MONDO:0100227\nPublications for gene ALS2 were changed from 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358 to 30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:23:44.397822+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:23:16.651250+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:23:16.644361+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:47.145453+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from congenital myopathy MONDO:0019952 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation\nPublications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:21.902547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.362",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from ALG14.\nSource Expert list was added to ALG14.\nPublications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:15.678100+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:15.652189+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:14.826383+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.252",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:22:06.626531+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.586",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:21:09.660850+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Royal Melbourne Hospital was removed from ALG14.\nSource Expert list was added to ALG14.\nPhenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation\nPublications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:20:12.794333+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.78",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ALG14.\nSource Expert list was added to ALG14.\nPublications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:19:54.154703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3401",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from ALG14.\nSource Expert list was added to ALG14.\nPublications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:09:58.411356+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1085",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from AGK.\nSource Australian Genomics Health Alliance Mitochondrial Flagship was removed from AGK.\nSource Expert list was added to AGK.\nMode of inheritance for gene AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350\nPublications for gene AGK were changed from 22415731; 25208612; 22415731; 25208612 to 22415731; 25208612; 22415731; 25208612",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:09:39.726766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3400",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from AGK.\nSource Expert list was added to AGK.",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-10-16T17:06:06.222297+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.234",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from ATP6V1B2.\nSource Expert list was added to ATP6V1B2.\nMode of inheritance for gene ATP6V1B2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:59:05.990836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3399",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DHX9.\nSource Expert list was added to DHX9.\nPhenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Charcot-Marie-Tooth disease, MONDO:0015626 to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:54:43.322046+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070\nPublications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:54:26.968432+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1084",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DGUOK.\nSource Australian Genomics Health Alliance Mitochondrial Flagship was removed from DGUOK.\nSource Victorian Clinical Genetics Services was removed from DGUOK.\nSource ClinGen was added to DGUOK.\nMode of inheritance for gene DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070\nPublications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:54:26.933425+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DGUOK.\nSource ClinGen was added to DGUOK.\nPhenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070\nPublications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:54:19.899402+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070\nPublications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:53:13.903019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3398",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DGUOK.\nSource ClinGen was added to DGUOK.\nPublications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:35:53.573660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3397",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DHH as Green List (high evidence)",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:35:53.562168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3397",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dhh has been classified as Green List (High Evidence).",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:35:21.497907+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHH.\nSource Expert list was added to DHH.\nPhenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:34:58.241811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3396",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHH.\nSource Expert list was added to DHH.\nPhenotypes for gene: DHH were changed from 46XY gonadal dysgenesis with minifascicular neuropathy\tMIM#607080; 46XY sex reversal 7\tMIM#233420 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:34:41.915050+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM#\t607080 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:34:20.137218+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHH were changed from MONDO:0011766 to 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:34:00.856351+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.41",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DHH.\nSource Expert list was added to DHH.\nPhenotypes for gene: DHH were changed from 46XY gonadal dysgenesis with minifascicular neuropathy, MIM# 607080 to MONDO:0011766",
"entity_name": "DHH",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:30:09.569955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.251",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAJC6.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from DNAJC6.\nSource Expert list was added to DNAJC6.\nPhenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528\nPublications for gene DNAJC6 were changed from 22563501, 23211418, 26528954, 33983693 to 22563501, 23211418, 26528954, 33983693",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:29:33.743785+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene DNAJC6 were changed from 22563501, 23211418, 26528954, 33983693 to 22563501, 23211418, 26528954, 33983693",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:29:01.614462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3394",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAJC6.\nSource Expert list was added to DNAJC6.\nPublications for gene DNAJC6 were changed from 22563501, 23211418, 26528954, 33983693 to 22563501, 23211418, 26528954, 33983693",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:27:40.612474+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.42",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DNAJC6.\nSource Victorian Clinical Genetics Services was removed from DNAJC6.\nSource Expert list was added to DNAJC6.\nPhenotypes for gene: DNAJC6 were changed from juvenile onset Parkinson disease 19A MONDO:0014231 to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:24:13.569296+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAH8.\nSource ClinGen was added to DNAH8.\nPhenotypes for gene: DNAH8 were changed from Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related\nPublications for gene DNAH8 were changed from 24307375 to 24307375",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:24:12.793066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3393",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAH8.\nSource ClinGen was added to DNAH8.\nPhenotypes for gene: DNAH8 were changed from Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MONDO:0033673; Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related\nPublications for gene DNAH8 were changed from 31178125, 32619401, 32681648, 33704367, 24307375 to 31178125, 32619401, 32681648, 33704367, 24307375",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:24:06.865606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.441",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH8 were changed from primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related\nPublications for gene DNAH8 were changed from 24307375 to 24307375",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:23:03.749307+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.40",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DNAH8.\nSource ClinGen was added to DNAH8.\nPhenotypes for gene: DNAH8 were changed from Spermatogenic failure 46, MIM# 619095 to Spermatogenic failure 46, MONDO:0033673\nPublications for gene DNAH8 were changed from 31178125, 32619401, 32681648, 33704367 to 31178125, 32619401, 32681648, 33704367",
"entity_name": "DNAH8",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:16:00.521517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3392",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DNAH1 as Green List (high evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:16:00.514301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3392",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Green List (High Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:15:26.953424+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAH1.\nSource ClinGen was added to DNAH1.\nPhenotypes for gene: DNAH1 were changed from ?Ciliary dyskinesia, primary, 37 617577; Spermatogenic failure 18 617576 to Primary ciliary dyskinesia 7, MONDO:0012748\nPublications for gene DNAH1 were changed from 25927852, 31765523, 33577779, 34210339 to 25927852, 31765523, 33577779, 34210339",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:15:06.491534+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH1 were changed from ?Ciliary dyskinesia, primary, 37 617577 to Primary ciliary dyskinesia 7, MONDO:0012748",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:14:41.286041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3391",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DNAH1.\nSource ClinGen was added to DNAH1.\nPhenotypes for gene: DNAH1 were changed from primary ciliary dyskinesia,37 MIM#617577; Spermatogenic failure 18 MIM#617576 to Spermatogenic failure 18, MONDO:0054615; Primary ciliary dyskinesia 7, MONDO:0012748\nPublications for gene DNAH1 were changed from 34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551, 25927852, 31765523, 33577779, 34210339 to 34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551, 25927852, 31765523, 33577779, 34210339\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:13:53.269399+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DNAH1.\nSource ClinGen was added to DNAH1.\nPhenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 , MIM# 617576 to Spermatogenic failure 18, MONDO:0054615\nPublications for gene DNAH1 were changed from 34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551 to 34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:07:35.766916+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.239",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from Desmosterolosis - MIM#602398 to Desmosterolosis, MONDO:0011217",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:58.449297+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.338",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:51.838788+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.55",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from Desmosterolosis MIM#602398; Disorders of the metabolism of sterols to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:49.668044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.361",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from DHCR24.\nSource ClinGen was added to DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:47.913625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.440",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genomics England PanelApp was removed from DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:45.109585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.250",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHCR24.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from DHCR24.\nSource Victorian Clinical Genetics Services was removed from DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:44.950933+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.562",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHCR24.\nSource ClinGen was added to DHCR24.\nPhenotypes for gene: DHCR24 were changed from to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:29.345648+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHCR24.\nSource ClinGen was added to DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:21.005521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3390",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DHCR24.\nPhenotypes for gene: DHCR24 were changed from Desmosterolosis MIM#602398; Disorders of the metabolism of sterols to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:06:19.894995+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.427",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217\nPublications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:01:17.342341+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DEF6 were changed from Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MONDO:0030457",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2025-10-16T16:01:09.183606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3389",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DEF6 were changed from Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MONDO:0030457",
"entity_name": "DEF6",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:59:07.151637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.360",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genetic Health Queensland was removed from DDX11.\nSource ClinGen was added to DDX11.\nPhenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:58:59.773505+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.349",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Literature was removed from DDX11.\nSource ClinGen was added to DDX11.\nPhenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:58:55.762185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.439",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Genomics England PanelApp was removed from DDX11.\nSource Literature was removed from DDX11.\nSource Genetic Health Queensland was removed from DDX11.\nSource ClinGen was added to DDX11.\nPhenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:58:53.184638+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DDX11.\nSource ClinGen was added to DDX11.\nPhenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:58:50.852454+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.83",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:58:46.542730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3388",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DDX11.\nSource ClinGen was added to DDX11.\nPhenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252\nPublications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:55:10.921192+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Royal Melbourne Hospital was removed from DDHD1.\nSource ClinGen was added to DDHD1.\nPhenotypes for gene: DDHD1 were changed from Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy to Hereditary spastic paraplegia 28, MONDO:0012256\nPublications for gene DDHD1 were changed from 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 to 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:55:05.963397+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, MIM#\t609340; MONDO:0012256 to Hereditary spastic paraplegia 28, MONDO:0012256\nPublications for gene DDHD1 were changed from 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 to 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:54:56.492483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3387",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DDHD1.\nSource ClinGen was added to DDHD1.\nPhenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256 to Hereditary spastic paraplegia 28, MONDO:0012256\nPublications for gene DDHD1 were changed from 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578 to 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:54:09.952916+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DDHD1 as Green List (high evidence)",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:54:09.942381+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ddhd1 has been classified as Green List (High Evidence).",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:53:57.847853+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15786464, 23176821, 24989667, 27216551, 26944165, 28818478, 29980238, 27999540, 33600578; Phenotypes: Hereditary spastic paraplegia 28, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD1",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:51:13.109833+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.126",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DCLRE1C.\nSource Expert list was added to DCLRE1C.\nMode of inheritance for gene DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225\nPublications for gene DCLRE1C were changed from 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:50:47.061845+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Melbourne Genomics Health Alliance Immunology Flagship was removed from DCLRE1C.\nSource Victorian Clinical Genetics Services was removed from DCLRE1C.\nSource Expert list was added to DCLRE1C.\nPhenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome MIM# 603554 to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225\nPublications for gene DCLRE1C were changed from 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:50:27.861804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3386",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DCLRE1C.\nSource Expert list was added to DCLRE1C.\nPhenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554 to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225\nPublications for gene DCLRE1C were changed from 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179 to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:38:26.470360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3385",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Source Victorian Clinical Genetics Services was removed from DCDC2.\nSource Victorian Clinical Genetics Services was removed from DCDC2.\nSource Expert list was added to DCDC2.\nPhenotypes for gene: DCDC2 were changed from Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394 to Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394; Deafness, autosomal recessive 66, MIM# 610212",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2025-10-16T15:37:26.034216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3384",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene DBR1 were changed from 39023559, 29474921, 37656279 to 39023559, 29474921, 37656279",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2025-10-16T14:03:31.832962+11:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.16",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAH were set to PMID: 39630157; 40378670\nPhenotypes for gene: PAH were set to Phenylketonuria MIM#261600\nReview for gene: PAH was set to GREEN\nAdded comment: Definitive gene disease association \r\nDefinitive for actionability in childhood \r\nIncluded in traditional newborn screening in all jurisdictions \nSources: Expert list",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2025-10-16T10:52:37.773968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3383",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Publications for gene DNM2 were changed from 15731758; 17636067; 33459893; 31628461; 23092955; 16227997; 33458580; 30232666; 24465259; 23938035 to 15731758; 17636067; 33459893; 31628461; 23092955; 16227997; 33458580; 30232666; 24465259; 23938035",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-10-16T10:21:55.022881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3382",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MAFA was added\ngene: MAFA was added to Mendeliome. Sources: Other\nMode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAFA were set to 29339498\nPhenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, OMIM #:147630\nReview for gene: MAFA was set to GREEN\nAdded comment: Addition of this review to Mendeliome, was only on the hyperinsulinism panel\r\n\r\n2 families with 36 individuals with AD inheritance of diabetes mellitus or insulinomatosis (adult-onset recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumours of pancreas). WES identified the same missense MAFA mutation (p.Ser64Phe, c.191C>T) segregating with both phenotypes of insulinomatosis and diabetes in both families. The p.Ser64Phe mutation was found to impair phosphorylation within the transactivation domain of MAFA and profoundly increased MAFA protein stability under both high and low glucose concentrations in β-cell lines. In addition, the transactivation potential of p.Ser64Phe MAFA in β-cell lines was enhanced compared with wild-type MAFA. The human phenotypes associated with the p.Ser64Phe MAFA missense mutation reflect both the oncogenic capacity of MAFA and its key role in islet β-cell activity. \nSources: Other",
"entity_name": "MAFA",
"entity_type": "gene"
},
{
"created": "2025-10-16T01:17:47.312257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3382",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: - PMID: 35719279 (2022) - another consanguineous family from Saudi Arabia with two sisters presented affected by retinitis pigmentosa since childhood. Whole exome sequencing identified a missense homozygous variant (c.2571C>T, p.(Ala857=)) in the DHX38 gene which segregated with the phenotype. No functional studies performed.\r\n\r\nPMID: 37867960 (2023) - zebrafish knockout model shows a role in the development of the retina; to: - PMID: 35719279 (2022) - another consanguineous family from Saudi Arabia with two sisters presented affected by retinitis pigmentosa since childhood. Whole exome sequencing identified a missense homozygous variant (c.2571C>T, p.(Ala857=)) in the DHX38 gene which segregated with the phenotype. No functional studies performed.\r\n\r\n- PMID: 37867960 (2023) - zebrafish knockout model shows a role in the development of the retina",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-10-16T01:17:27.967514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3382",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DHX38",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:45:01.300044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:44:32.218221+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:44:05.202766+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:43:20.779386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UGGT1 were set to ",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:42:39.900280+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UGGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:42:06.829669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:41:53.763423+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:41:26.392690+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:41:08.299658+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
}
]
}