{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=801","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=799","results":[{"created":"2022-07-14T11:37:00.747371+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.272","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on phenotypes: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression.","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:37:00.714355+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.272","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:36:59.317374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK3 as ready","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:36:59.309131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:36:46.298854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:36:23.148998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK3 as Green List (high evidence)","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:36:23.136244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:36:16.567865+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Chern Lim","item_type":"entity","text":"gene: CHMP3 was added\ngene: CHMP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP3 were set to PMID: 35710109\nPhenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related\nReview for gene: CHMP3 was set to AMBER\ngene: CHMP3 was marked as current diagnostic\nAdded comment: PMID: 35710109\r\n- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia. \r\n- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy. \nSources: Literature","entity_name":"CHMP3","entity_type":"gene"},{"created":"2022-07-14T11:35:54.543006+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4848","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK3 as ready","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:35:54.530000+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4848","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:35:50.468419+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.271","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:35:49.210717+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.88","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ASPH was added\ngene: ASPH was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: ASPH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASPH were set to 35697689\nPhenotypes for gene: ASPH were set to Exertional heat illness; malignant hyperthermia susceptibility\nReview for gene: ASPH was set to AMBER\ngene: ASPH was marked as current diagnostic\nAdded comment: In a study of 103 individuals (63 affected from 34 families, plus 40 sporadic cases) who had either a sentinel event of EHI or MH, or else a positive CHCT and a first degree releative with EHI/MH, and where RYR1 and CACNA1S Sanger sequencing was negative, the following variants in ASPH were identified in unrelated individuals:\r\n\r\n- c.161T > C in 2 members of a family with myalgias exacerbated by heat/exercise. One had elevated CK. Both had positive CHCT. An unaffected sibling did not have the variant. 27 hets in gnomad v2 / 17 hets in gnomad v3.\r\n- c.445G>C in a patient with MH, myalgias and muscle cramps worsened by heat and exercise. 4 hets in gnomad v2 / 3 hets in gnomad v3. Non-coding in the MANE transcript.\r\n- c.263A > C in a patient with EHI, diagnosed as MHN by in vitro contracture test. Absent from gnomad but non-coding in the MANE transcript.\r\n- c.605A > G in a patient with EHI, diagnosed as MHN by in vitro contracture test. 223 hets in gnomad v2 / 120 hets in gnomad v3; no homs. Non-coding in the MANE transcript.\r\n\r\nA zebrafish model and cell line functional studies supported pathogenicity of the c.161T > C and c.263A > C variants. \nSources: Literature","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:35:46.433574+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4848","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK3 as Green List (high evidence)","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:35:46.424637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4848","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:35:12.166323+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4847","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:35:10.749644+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.486","user_name":"Chern Lim","item_type":"entity","text":"gene: CHMP3 was added\ngene: CHMP3 was added to Regression. Sources: Literature\nMode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP3 were set to PMID: 35710109\nPhenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related\nReview for gene: CHMP3 was set to AMBER\ngene: CHMP3 was marked as current diagnostic\nAdded comment: PMID: 35710109\r\n- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia. \r\n- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy. \nSources: Literature","entity_name":"CHMP3","entity_type":"gene"},{"created":"2022-07-14T11:34:52.188612+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4847","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:34:19.124225+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4846","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:34:04.369338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4846","user_name":"Chern Lim","item_type":"entity","text":"gene: CHMP3 was added\ngene: CHMP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP3 were set to PMID: 35710109\nPhenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related\nReview for gene: CHMP3 was set to AMBER\ngene: CHMP3 was marked as current diagnostic\nAdded comment: PMID: 35710109\r\n- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia. \r\n- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy. \nSources: Literature","entity_name":"CHMP3","entity_type":"gene"},{"created":"2022-07-14T11:33:56.695277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Lucy Spencer","item_type":"entity","text":"gene: WNK3 was added\ngene: WNK3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WNK3 were set to 35678782\nPhenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)\nAdded comment: 6 maternally inherited hemizygous variants, 3 missense, 2 canonical splice, and a nonsense. Seen in 14 individuals from 6 families, all 14 are male who inherited hemizygous variants from their unaffected heterozygous mothers. The variants cosegregated with disease in 3 families with multiple affected individuals. All 14 patients have ID, 11 have speech delay, 10 have facial abnormalities, 5 have seizures, 6 with microcephaly and 7 with anomalies in brain imaging. \nSources: Literature","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:33:49.585407+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4846","user_name":"Alison Yeung","item_type":"entity","text":"Publications for gene: ACOX1 were set to 32169171; 17458872","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:33:35.089406+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.3","user_name":"Paul De Fazio","item_type":"entity","text":"gene: ASPH was added\ngene: ASPH was added to Malignant Hyperthermia Susceptibility. Sources: Literature\nMode of inheritance for gene: ASPH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASPH were set to 35697689\nPhenotypes for gene: ASPH were set to Exertional heat illness; malignant hyperthermia susceptibility\nReview for gene: ASPH was set to AMBER\ngene: ASPH was marked as current diagnostic\nAdded comment: In a study of 103 individuals (63 affected from 34 families, plus 40 sporadic cases) who had either a sentinel event of EHI or MH, or else a positive CHCT and a first degree releative with EHI/MH, and where RYR1 and CACNA1S Sanger sequencing was negative, the following variants in ASPH were identified in unrelated individuals:\r\n\r\n- c.161T > C in 2 members of a family with myalgias exacerbated by heat/exercise. One had elevated CK. Both had positive CHCT. An unaffected sibling did not have the variant. 27 hets in gnomad v2 / 17 hets in gnomad v3.\r\n- c.445G>C in a patient with MH, myalgias and muscle cramps worsened by heat and exercise. 4 hets in gnomad v2 / 3 hets in gnomad v3. Non-coding in the MANE transcript.\r\n- c.263A > C in a patient with EHI, diagnosed as MHN by in vitro contracture test. Absent from gnomad but non-coding in the MANE transcript.\r\n- c.605A > G in a patient with EHI, diagnosed as MHN by in vitro contracture test. 223 hets in gnomad v2 / 120 hets in gnomad v3; no homs. Non-coding in the MANE transcript.\r\n\r\nA zebrafish model and cell line functional studies supported pathogenicity of the c.161T > C and c.263A > C variants. \nSources: Literature","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:33:30.958591+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4845","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from  to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:33:22.737040+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4845","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:33:22.722098+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4845","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acox1 has been classified as Green List (High Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:33:13.362438+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4845","user_name":"Alison Yeung","item_type":"entity","text":"Publications for gene: ACOX1 were set to ","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:33:09.651228+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.38","user_name":"Chern Lim","item_type":"entity","text":"gene: CHMP3 was added\ngene: CHMP3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHMP3 were set to PMID: 35710109\nPhenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related\nReview for gene: CHMP3 was set to AMBER\ngene: CHMP3 was marked as current diagnostic\nAdded comment: PMID: 35710109\r\n- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia. \r\n- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy. \nSources: Literature","entity_name":"CHMP3","entity_type":"gene"},{"created":"2022-07-14T11:32:52.830921+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4844","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: ACOX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:32:41.875383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT7B as ready","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:32:41.862375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:32:12.144052+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:31:52.709063+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT7B as Green List (high evidence)","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:31:52.700972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:31:32.043495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7B was added\ngene: WNT7B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7B were set to 35790350\nPhenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related\nReview for gene: WNT7B was set to GREEN\nAdded comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. \nSources: Literature","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:30:05.267357+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Lucy Spencer","item_type":"entity","text":"gene: WNK3 was added\ngene: WNK3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: WNK3 were set to 35678782\nPhenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092)\nReview for gene: WNK3 was set to GREEN\nAdded comment: 6 maternally inherited hemizygous variants, 3 missense, 2 canonical splice, and a nonsense. Seen in 14 individuals from 6 families, all 14 are male who inherited hemizygous variants from their unaffected heterozygous mothers. The variants cosegregated with disease in 3 families with multiple affected individuals. All 14 patients have ID, 11 have speech delay, 10 have facial abnormalities, 5 have seizures, 6 with microcephaly and 7 with anomalies in brain imaging. \nSources: Literature","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:29:15.282887+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT7B as ready","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:29:15.250496+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Amber List (Moderate Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:28:59.599528+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT7B as Amber List (moderate evidence)","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:28:59.588146+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Amber List (Moderate Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:28:29.257191+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7B was added\ngene: WNT7B was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7B were set to 35790350\nPhenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related\nReview for gene: WNT7B was set to AMBER\nAdded comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. Uncertain if all had anophthalmia/microphthalmia. \nSources: Literature","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:25:44.036310+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAL as ready","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:25:44.028313+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:23:55.918952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.124","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:23:55.893259+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.124","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:23:47.256488+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:23:47.232948+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:23:31.036592+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAL as Amber List (moderate evidence)","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:23:31.028287+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:23:14.256920+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4842","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:23:14.247382+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4842","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:50.596095+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4842","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:50.564468+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4842","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:47.569358+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.38","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:47.558290+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.38","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:41.017676+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT7B as ready","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:22:41.000012+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:22:31.373900+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT7B as Green List (high evidence)","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:22:31.364896+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:22:25.444616+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4841","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: TMEM63C as ready","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:25.436284+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4841","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Red List (Low Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:16.986407+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.37","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: TMEM63C as Green List (high evidence)","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:16.964133+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.37","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:13.809263+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.36","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: TMEM63C as ready","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:13.799885+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.36","user_name":"Elena Savva","item_type":"entity","text":"Gene: tmem63c has been classified as Red List (Low Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:08.493865+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.123","user_name":"Elena Savva","item_type":"entity","text":"gene: TMEM63C was added\ngene: TMEM63C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM63C were set to PMID: 35718349\nPhenotypes for gene: TMEM63C were set to Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related\nReview for gene: TMEM63C was set to GREEN\nAdded comment: PMID: 35718349 - Four NMD PTCs observed in at least 3 unrelated patients. Two segregated strongly in highly consanguineous families.\r\nCommon clinical details include mild ID, spastic paraplegia, hypereflexia, spasticity, delayed motor development. Single patient was microcephalic \nSources: Literature","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:22:03.489662+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4841","user_name":"Elena Savva","item_type":"entity","text":"gene: TMEM63C was added\ngene: TMEM63C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM63C were set to PMID: 35718349\nPhenotypes for gene: TMEM63C were set to Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related\nReview for gene: TMEM63C was set to GREEN\nAdded comment: PMID: 35718349 - Four NMD PTCs observed in at least 3 unrelated patients. Two segregated strongly in highly consanguineous families.\r\nCommon clinical details include mild ID, spastic paraplegia, hypereflexia, spasticity, delayed motor development. \nSources: Literature","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:21:38.423843+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.36","user_name":"Elena Savva","item_type":"entity","text":"gene: TMEM63C was added\ngene: TMEM63C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM63C were set to PMID: 35718349\nPhenotypes for gene: TMEM63C were set to Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related\nReview for gene: TMEM63C was set to GREEN\nAdded comment: PMID: 35718349 - Four NMD PTCs observed in at least 3 unrelated patients. Two segregated strongly in highly consanguineous families.\r\nCommon clinical details include mild ID, spastic paraplegia, hypereflexia, spasticity, delayed motor development. \nSources: Literature","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-14T11:20:28.595526+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7B was added\ngene: WNT7B was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7B were set to 35790350\nPhenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related\nReview for gene: WNT7B was set to GREEN\nAdded comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. \nSources: Literature","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:17:39.643287+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT7B as Green List (high evidence)","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:17:39.635333+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:17:27.595377+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7B was added\ngene: WNT7B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7B were set to 35790350\nPhenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related\nReview for gene: WNT7B was set to GREEN\nAdded comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. \nSources: Literature","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T11:14:17.769165+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4840","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAL was added\ngene: MAL was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAL were set to 35217805\nPhenotypes for gene: MAL were set to Leukodystrophy MONDO:0019046, MAL-related\nReview for gene: MAL was set to AMBER\nAdded comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. \nSources: Literature","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:12:34.778426+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAL as ready","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:12:34.764446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:05:23.544501+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAL as Amber List (moderate evidence)","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:05:23.532549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T11:03:59.680003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAL was added\ngene: MAL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAL were set to 35217805\nPhenotypes for gene: MAL were set to Leukodystrophy MONDO:0019046, MAL-related\nReview for gene: MAL was set to AMBER\nAdded comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. \nSources: Literature","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:59:53.036583+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAL as ready","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:59:53.025763+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:59:28.008774+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAL as Amber List (moderate evidence)","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:59:27.996958+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mal has been classified as Amber List (Moderate Evidence).","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:58:54.941893+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAL was added\ngene: MAL was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAL were set to 35217805\nPhenotypes for gene: MAL were set to Leukodystrophy MONDO:0019046, MAL-related\nReview for gene: MAL was set to AMBER\nAdded comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. \nSources: Literature","entity_name":"MAL","entity_type":"gene"},{"created":"2022-07-14T10:57:00.584695+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAK as ready","entity_name":"MAK","entity_type":"gene"},{"created":"2022-07-14T10:57:00.575176+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mak has been classified as Amber List (Moderate Evidence).","entity_name":"MAK","entity_type":"gene"},{"created":"2022-07-14T10:56:54.351385+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAK as Amber List (moderate evidence)","entity_name":"MAK","entity_type":"gene"},{"created":"2022-07-14T10:56:54.336303+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mak has been classified as Amber List (Moderate Evidence).","entity_name":"MAK","entity_type":"gene"},{"created":"2022-07-14T10:56:09.730104+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAK was added\ngene: MAK was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAK were set to 35217805\nPhenotypes for gene: MAK were set to Leukodystrophy MONDO:0019046, MAL-related\nReview for gene: MAK was set to AMBER\nAdded comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. \nSources: Literature","entity_name":"MAK","entity_type":"gene"},{"created":"2022-07-14T10:41:43.699076+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to 27000652","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:41:04.621430+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELN as Green List (high evidence)","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:41:04.609697+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reln has been classified as Green List (High Evidence).","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:40:37.905659+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELN: Added comment: Additional families with bi-allelic variants reported. Cerebellar hypoplasia is a feature.; Changed rating: GREEN; Changed publications: 27000652, 35769015","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:34:41.019433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.120","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to 32001840","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:34:08.384868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELN: Added comment: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile. Additional 7 individuals from 4 families with bi-allelic variants.; Changed publications: 35769015","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:33:00.198648+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to 10973257; 29671837; 31805691","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:32:32.433907+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:31:31.389279+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.; to: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.\r\n\r\nAdditional 7 individuals from 4 families with bi-allelic variants.","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:30:44.223752+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELN: Added comment: PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.; Changed publications: 10973257, 29671837, 31805691, 35769015; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2022-07-14T10:28:12.634793+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4839","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Further 7 individuals reported from 4 families, three of which were consanguineous.\r\n\r\nClinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy.\r\n\r\nFive had the previously reported c.781-1G > A variant in homozygous state. This is likely to be a founder variant.\r\n\r\nOne family with different compound heterozygous variants.; to: Further 7 individuals reported from 4 families, three of which were consanguineous.\r\n\r\nClinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy.\r\n\r\nFive had the previously reported c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities.\r\n\r\nOne family with different compound heterozygous variants.","entity_name":"TAF8","entity_type":"gene"},{"created":"2022-07-14T10:27:46.898588+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4839","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder was removed from gene: TAF8.","entity_name":"TAF8","entity_type":"gene"},{"created":"2022-07-14T10:27:28.181037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. This is likely to be a founder variant. One family with different compound heterozygous variants. \nSources: Literature; to: 8 individuals reported from 5 families, four of which were consanguineous. Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Six had the c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities. One family with different compound heterozygous variants. \r\nSources: Literature","entity_name":"TAF8","entity_type":"gene"}]}