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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1011",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1009",
"results": [
{
"created": "2022-02-02T11:03:12.767467+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1442",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAP1 were set to PMID: 35051358\nPhenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508\nPenetrance for gene: BAP1 were set to unknown\nReview for gene: BAP1 was set to GREEN\nAdded comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature. \nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:02:58.576190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A3 as ready",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:02:58.563571+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:02:26.268949+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.688",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:02:03.650258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4486",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: RBL2 were changed from Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690 to Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:02:02.165733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP5E were set to 20566710; 27626380; 20026007",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:01:39.329288+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4486",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: RBL2 were changed from Intellectual disability to Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:01:30.369050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4485",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAP1 were set to PMID: 35051358\nPhenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508\nPenetrance for gene: BAP1 were set to unknown\nReview for gene: BAP1 was set to GREEN\nAdded comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature. \nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:01:11.824922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP5E as Green List (high evidence)",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2022-02-02T11:01:11.812608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5e has been classified as Green List (High Evidence).",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:59:43.022918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10847",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: OBSCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34957489; Phenotypes: Rhabdomyolysis MONDO:0005290, OBSCN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:59:28.302935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4485",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RBL2 as Green List (high evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:59:28.292739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4485",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Green List (High Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:59:15.863970+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.8",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM53 was added\ngene: TMEM53 was added to Osteopetrosis. Sources: Literature\nMode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM53 were set to PMID: 33824347\nPhenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230\nReview for gene: TMEM53 was set to GREEN\nAdded comment: PMID: 33824347- 4 families with sclerosing bone disorder \nSources: Literature",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:57:47.243524+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.152",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM53 was added\ngene: TMEM53 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM53 were set to PMID: 33824347\nPhenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230\nReview for gene: TMEM53 was set to GREEN\nAdded comment: PMID: 33824347- 4 families with sclerosing bone disorder. \nSources: Literature",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:56:37.611252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10847",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: RBL2 were changed from Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 to Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:54:21.636840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10846",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ADAMTS1 was added\ngene: ADAMTS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS1 were set to 34135477\nPhenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related\nReview for gene: ADAMTS1 was set to RED\ngene: ADAMTS1 was marked as current diagnostic\nAdded comment: Homozygous missense variant p.(Ser135Ala) identified in 3 affected siblings from a single consanguineous Pakistani family by WES. A fourth unaffected sibling was homozygous wild type. Variant is in gnomad (26 hets, 1 hom). \r\n\r\nRNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). \nSources: Literature",
"entity_name": "ADAMTS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:53:43.910919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10846",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RBL2 as Green List (high evidence)",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:53:43.893609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10846",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rbl2 has been classified as Green List (High Evidence).",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:53:16.537481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10845",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: RBL2 were changed from Intellectual disability to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:52:23.773071+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4484",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOD1 were set to PMID: 31314961; 31332433; 34788402\nPhenotypes for gene: SOD1 were set to Spastic tetraplegia and axial hypotonia, progressive, MIM#618598\nReview for gene: SOD1 was set to GREEN\nAdded comment: Phenotypes include one individual with axial hypotonia and loss of gross and fine motor function beginning at 6 months of age, after which severe, progressive spastic tetraparesis developed and Babinski’s sign was present in both feet. MRI of brain detected mild frontoparietal atrophy.\r\n\r\nThe second individual had severe and marked by progressive loss of motor abilities from 9 months of age, tetraspasticity with predominance in the lower extremities, mild cerebellar atrophy, and hyperekplexia-like symptoms. Dysmorphic features such as low set, posteriorly rotated ears, and overlapping toes\r\n\r\nThe third individual is an infant with severe global developmental delay, axial hypotonia and limb spasticity. No dysmorphic facial features were noted, but she had a high arched palate, bilateral 5th finger clinodactyly, partial toe syndactyly of the second and third toes, and a single hyperpigmented macule tongue fasciculations, axial hypotonia with limb spasticity (more pronounced in the lower limbs), ankle clonus, and brisk patellar deep tendon reflexes. \nSources: Literature",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:51:34.664358+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, MONDO:0005290 to Rhabdomyolysis, MONDO:0005290, OBSCN-related",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:51:19.874660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP5O was added\ngene: ATP5O was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5O were set to 34954817\nPhenotypes for gene: ATP5O were set to mitochondrial disease, ATP5F1E-related MONDO:0044970\nPenetrance for gene: ATP5O were set to Complete\nReview for gene: ATP5O was set to RED\ngene: ATP5O was marked as current diagnostic\nAdded comment: Now known as ATP5PO (HGNC)\r\n\r\n1 compound het individual with dev delay, muscular hypotonia, ID, dystonia, seizures and neurologic regression \nSources: Literature",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:51:16.949630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "changed review comment from: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal mal- formations (involving the hands [4/11], feet [3/11], or spine [2/11],). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.\r\nSources: Literature; to: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.\r\nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:50:28.715493+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OBSCN as ready",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:50:28.705610+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obscn has been classified as Green List (High Evidence).",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:50:23.568915+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OBSCN as Green List (high evidence)",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:50:23.550577+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obscn has been classified as Green List (High Evidence).",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:50:08.179240+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.397",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to Regression. Sources: Literature\nMode of inheritance for gene: SOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOD1 were set to PMID: 31314961; 31332433; 34788402\nPhenotypes for gene: SOD1 were set to Spastic tetraplegia and axial hypotonia, progressive, MIM#618598\nReview for gene: SOD1 was set to GREEN\nAdded comment: Three individuals reported with biallelic LoF variants, with two apparently unrelated individuals having the same variant (c.335dupG). \r\n\r\nPhenotypes include one individual with axial hypotonia and loss of gross and fine motor function beginning at 6 months of age, after which severe, progressive spastic tetraparesis developed and Babinski’s sign was present in both feet. MRI of brain detected mild frontoparietal atrophy.\r\n\r\nThe second individual had severe and marked by progressive loss of motor abilities from 9 months of age, tetraspasticity with predominance in the lower extremities, mild cerebellar atrophy, and hyperekplexia-like symptoms. Dysmorphic features such as low set, posteriorly rotated ears, and overlapping toes\r\n\r\nThe third individual is an infant with severe global developmental delay, axial hypotonia and limb spasticity. No dysmorphic facial features were noted, but she had a high arched palate, bilateral 5th finger clinodactyly, partial toe syndactyly of the second and third toes, and a single hyperpigmented macule tongue fasciculations, axial hypotonia with limb spasticity (more pronounced in the lower limbs), ankle clonus, and brisk patellar deep tendon reflexes. \nSources: Literature",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:49:00.355445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4484",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: -10 individuals from eight unrelated with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment.\r\n-variants included heterozygous premature truncating and missense variants\r\n-Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father \nSources: Literature; to: -10 individuals from eight unrelated families with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment.\r\n-variants included heterozygous premature truncating and missense variants\r\n-Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father \r\nSources: Literature",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:45.546836+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:45.524787+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:34.896374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4484",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: ITSN1 was added\ngene: ITSN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ITSN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITSN1 were set to PMID: 34707297\nPhenotypes for gene: ITSN1 were set to neurodevelopmental disorder MONDO:0700092 ITSN1-related\nPenetrance for gene: ITSN1 were set to unknown\ngene: ITSN1 was marked as current diagnostic\nAdded comment: -10 individuals from eight unrelated with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment.\r\n-variants included heterozygous premature truncating and missense variants\r\n-Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father \nSources: Literature",
"entity_name": "ITSN1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:22.452338+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:22.433977+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:48:08.123223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:47:15.792499+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MAN2C1 as ready",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:47:15.729699+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:47:09.107707+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:47:09.042025+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.44",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:55.113637+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:55.100419+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:38.656510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "changed review comment from: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. Patients phenotypes also included developmental delay, speech and motor delay, seizures, hypotonia, abnormal behaviour, autism, attention deficit hyperactivity disorder, and hypersensitivity. \nSources: Literature; to: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal mal- formations (involving the hands [4/11], feet [3/11], or spine [2/11],). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.\r\nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:28.010263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM53 as ready",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:27.994826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem53 has been classified as Green List (High Evidence).",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:06.845981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM53 as Green List (high evidence)",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:46:06.833731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem53 has been classified as Green List (High Evidence).",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:45:41.701315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM53 were changed from Sclerosing bone disorder, macrocephaly, impaired vision, short stature to Primary bone dysplasia MONDO:0018230, TMEM53-related; Sclerosing bone disorder, macrocephaly, impaired vision, short stature",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:45:28.178060+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:45:28.168245+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:45:03.674911+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.172",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:44:57.146564+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MAN2C1 as ready",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:44:57.136491+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:44:42.700438+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:44:42.675978+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:44:20.584654+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:58.441573+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A3 as Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:58.429022+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:57.652811+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:57.637739+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.171",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:57.609497+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:43:28.173809+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.43",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2C1 were set to 35045343\nPhenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related\nReview for gene: MAN2C1 was set to GREEN\nAdded comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.\r\n*3 individuals (2 families) presented hypoplasia of brainstem and/or cerebellar \nSources: Literature",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:42:21.025557+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A3 as ready",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:42:21.012748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:42:03.114108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A3 as Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:42:03.101023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:10.249638+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.170",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Polymicrogyria and Schizencephaly. Sources: Literature,Research\nMode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2C1 were set to 35045343\nPhenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related\nReview for gene: MAN2C1 was set to GREEN\nAdded comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense. \r\n*3 unrelated individuals presented polymicrogyria \nSources: Literature, Research",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:07.312849+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A3 as Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:07.300801+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:04.823855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10842",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MAN2C1 as ready",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:04.809509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10842",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:02.904414+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSK as ready",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:41:02.893371+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsk has been classified as Green List (High Evidence).",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:57.086528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10842",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:22.696815+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A3 as ready",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:22.662809+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:20.336037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10841",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MAN2C1 as Green List (high evidence)",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:20.323199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10841",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: man2c1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:40:09.653879+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:38:41.597197+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A3 as Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:38:41.585373+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:37:42.048216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC38A3 as ready",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:37:42.038296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:37:37.930505+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SLC38A3 was added\ngene: SLC38A3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A3 were set to 34605855\nPhenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062\nPenetrance for gene: SLC38A3 were set to Complete\nReview for gene: SLC38A3 was set to GREEN\ngene: SLC38A3 was marked as current diagnostic\nAdded comment: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\nAcquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD) \nSources: Literature",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:37:24.126326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:36:50.577660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC38A3 as Green List (high evidence)",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:36:50.559748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc38a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:36:19.443815+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.152",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARSK was added\ngene: ARSK was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSK were set to 34916232; 32856704\nPhenotypes for gene: ARSK were set to Mucopolysaccharidosis MONDO:0019249, ARSK-related\nReview for gene: ARSK was set to GREEN\ngene: ARSK was marked as current diagnostic\nAdded comment: 4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.\r\n\r\nA mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.\r\n\r\nRated green (2 families, functional evidence, mouse model). \nSources: Literature",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:36:09.196221+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2C1 were set to 35045343\nPhenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related\nReview for gene: MAN2C1 was set to GREEN\nAdded comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense. \nSources: Literature",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:36:09.062221+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis MONDO:0019249, ARSK-related to Mucopolysaccharidosis MONDO:0019249, ARSK-related",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:35:58.093451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10838",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAP1 were set to PMID: 35051358\nPhenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508\nPenetrance for gene: BAP1 were set to unknown\nReview for gene: BAP1 was set to GREEN\nAdded comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. Patients phenotypes also included developmental delay, speech and motor delay, seizures, hypotonia, abnormal behaviour, autism, attention deficit hyperactivity disorder, and hypersensitivity. \nSources: Literature",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:35:29.220032+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:33:30.312213+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSK as Green List (high evidence)",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:33:30.303068+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsk has been classified as Green List (High Evidence).",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:33:25.588978+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.85",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: OBSCN was added\ngene: OBSCN was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: OBSCN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OBSCN were set to PMID: 34957489\nPhenotypes for gene: OBSCN were set to Rhabdomyolysis, MONDO:0005290\nPenetrance for gene: OBSCN were set to unknown\nReview for gene: OBSCN was set to GREEN\ngene: OBSCN was marked as current diagnostic\nAdded comment: -Six unrelated individuals with severe, recurrent rhabdomyolysis carrying bi-allelic loss of function variants\r\n-Three of six probands experienced acute renal failure\r\n-None presented with cardiac involvement/symptoms of cardiac disease\r\n-Patient muscles demonstrated reduced OBSCN expression and loss of obscurin protein \nSources: Literature",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:32:07.446930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSK as ready",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:32:07.434939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsk has been classified as Green List (High Evidence).",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:31:55.580531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:31:28.171025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSK as Green List (high evidence)",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:31:28.159213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsk has been classified as Green List (High Evidence).",
"entity_name": "ARSK",
"entity_type": "gene"
}
]
}