{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1029","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1027","results":[{"created":"2022-01-24T18:44:36.887806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10772","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPGD","entity_type":"gene"},{"created":"2022-01-24T18:43:57.405310+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10771","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLMN as ready","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:43:57.394925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10771","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glmn has been classified as Green List (High Evidence).","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:43:49.326615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10771","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLMN were changed from  to Glomuvenous malformations MIM#138000","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:43:29.218303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10770","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLMN were set to ","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:43:10.310902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10769","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLMN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:42:40.495389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2732","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLMN as ready","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:42:40.467694+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2732","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glmn has been classified as Red List (Low Evidence).","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:42:36.353825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2732","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLMN were changed from GLOMUVENOUS MALFORMATIONS to Glomuvenous malformations MIM#138000","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:42:21.185566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2731","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:42:09.026179+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2730","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GLMN","entity_type":"gene"},{"created":"2022-01-24T18:41:01.378564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2730","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GK as ready","entity_name":"GK","entity_type":"gene"},{"created":"2022-01-24T18:41:01.367338+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gk has been classified as Red List (Low Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2022-01-24T18:40:56.926879+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2730","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GK were changed from GLYCEROL KINASE DEFICIENCY to Glycerol kinase deficiency MIM#307030","entity_name":"GK","entity_type":"gene"},{"created":"2022-01-24T18:40:22.898781+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4461","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDI1 as ready","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:40:22.887885+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4461","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdi1 has been classified as Green List (High Evidence).","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:40:18.678061+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4461","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDI1 were changed from  to Intellectual developmental disorder, X-linked 41 MIM#300849","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:36:51.630827+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4460","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDI1 were set to ","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:36:49.129046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2729","user_name":"Krithika Murali","item_type":"entity","text":"gene: MED25 was added\ngene: MED25 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 25792360; 32816121; 32816121; 32324310\nPhenotypes for gene: MED25 were set to multiple congenital anomalies; congenital heart defects; hypospadias, thin corpus callosum, cerebral ventricular dilatation; Basel-Vanagait-Smirin-Yosef syndrome - #616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643\nReview for gene: MED25 was set to GREEN\nAdded comment: Multiple individuals reported - biallelic variants associated with severe syndromic neurodevelopmental disorder diagnosed from infancy.  \r\n\r\nPMID 32324310 - report one patient with antenatal ultrasound demonstrating cleft lip and clenched hands.\r\n\r\nAdditional features associated wtih this condition that may be diagnosed antenatally include cleft palate, cardiac septal defects, hypospadias, polymicrogyria, thin corpus callosum, microcephaly and cerebral ventricular dilatation. \nSources: Literature","entity_name":"MED25","entity_type":"gene"},{"created":"2022-01-24T18:23:24.606398+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4459","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDI1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:22:56.143740+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4458","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:22:41.316126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10768","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDI1 as ready","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:22:41.304618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10768","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdi1 has been classified as Green List (High Evidence).","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:22:33.446950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10768","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDI1 were changed from  to Intellectual developmental disorder, X-linked 41 MIM#300849","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:22:19.193690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10767","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDI1 were set to ","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:21:44.907507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10766","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDI1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:21:07.035313+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2729","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDI1 as ready","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:21:07.024565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2729","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdi1 has been classified as Red List (Low Evidence).","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:21:03.300750+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2729","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48 to Intellectual developmental disorder, X-linked 41 MIM#300849","entity_name":"GDI1","entity_type":"gene"},{"created":"2022-01-24T18:18:02.035206+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Krithika Murali","item_type":"entity","text":"gene: SHMT2 was added\ngene: SHMT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHMT2 were set to 33015733\nPhenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121\nReview for gene: SHMT2 was set to GREEN\nAdded comment: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities particularly thin corpus callosum and polymicrogyria (NEDCASB) associated with biallelic SHMT2 variants.  Antenatal detection of microcephaly reported.\r\n\r\n--\r\nDetailed PanelApp review Oct 2020 - no new evidence to add\r\n\r\nGarcía‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.\r\n\r\nAll affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.\r\n\r\nBiallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.\r\n\r\nSHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.\r\n\r\nMitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.\r\n\r\nWhile plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.\r\n\r\nShmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.\r\n\r\nThe authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity). \nSources: Literature","entity_name":"SHMT2","entity_type":"gene"},{"created":"2022-01-24T18:09:16.668987+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Krithika Murali","item_type":"entity","text":"gene: MAST1 was added\ngene: MAST1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827; corpus callosum anomalies; cortical malformations; cerebellar hypoplasia\nReview for gene: MAST1 was set to GREEN\nAdded comment: Neurodevelopmental disorder with muscular hypotonia and varying brain anomalies which may be diagnosed antenatally.\r\n\r\nReported cases include x1 individual reported to have hydrocephalus antenatally (PMID 32818970).  MRI-B at 17 months demonstrated polymicrogyria, hyperplastic corpus callosum, progressive pontine hypoplasia and enlarged ventricles. \r\n\r\nAnother female patient reported with antenatal findings of increased nuchal translucency in a pregnancy complicated by oligohydramnios, IUGR, pre-eclampsia and pre-term delivery at 32 weeks (PMID 32198973).  Postnatally diagnosed with cortical malformations without cerebellar hypoplasia.\r\n\r\n6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene (30449657). In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.\r\n\r\n1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1 (30449657) \nSources: Literature","entity_name":"MAST1","entity_type":"gene"},{"created":"2022-01-24T17:43:29.153278+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Krithika Murali","item_type":"entity","text":"gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30945334; 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities - #618443; cerebral atrophy; corpus callosum anomalies; polymicrogyria\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: 13 unrelated individuals and 5 individuals from 4 families identified with de novo heterozygous MAPK8IP3 variants.  Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy and hypoplasia of the corpus callosum consistently reported in affected individuals \nSources: Literature","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2022-01-24T17:28:32.812773+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Krithika Murali","item_type":"entity","text":"gene: MAP1B was added\ngene: MAP1B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP1B were set to 31317654; 33772511; 30150678; 30214071\nPhenotypes for gene: MAP1B were set to polymicrogyria; PVNH; Periventricular nodular heterotopia 9, MIM# 618918\nReview for gene: MAP1B was set to GREEN\nAdded comment: At least 5 families described with phenotypic features that include variable brain malformations potentially detectable antenatally. \nSources: Literature","entity_name":"MAP1B","entity_type":"gene"},{"created":"2022-01-24T17:19:50.954769+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27431290, 26539891, 29706646, 11861479; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASTN1","entity_type":"gene"},{"created":"2022-01-24T17:10:51.105093+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T17:10:51.094862+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Red List (Low Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T17:10:46.391661+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2728","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAMT were changed from GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 2 MIM#612736","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-01-24T17:09:38.927493+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NMNAT2 as ready","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T17:09:38.917358+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nmnat2 has been classified as Amber List (Moderate Evidence).","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T17:09:35.130538+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2727","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NMNAT2 were changed from hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma to Hydrops fetalis and multiple fetal anomalies; polyneuropathy; erythromelalgia","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T17:09:21.833503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2726","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T17:08:43.171979+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10765","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NMNAT2 were changed from polyneuropathy; erythromelalgia to polyneuropathy; erythromelalgia; Hydrops fetalis and multiple fetal anomalies","entity_name":"NMNAT2","entity_type":"gene"},{"created":"2022-01-24T17:07:44.061672+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2725","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX6-2 as ready","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:07:44.050726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2725","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx6-2 has been classified as Red List (Low Evidence).","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:07:23.737834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2725","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX6-2 were changed from Progressive Spastic Ataxia and Hypomyelination to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:07:13.418726+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2724","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their review","entity_name":"ASTN1","entity_type":"gene"},{"created":"2022-01-24T17:07:09.323502+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2724","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX6-2 were set to ","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:06:55.154297+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2723","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NKX6-2 as Red List (low evidence)","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:06:55.144079+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2723","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx6-2 has been classified as Red List (Low Evidence).","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2022-01-24T17:06:09.600478+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NECTIN1 as ready","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:06:09.585634+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:06:01.477020+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NECTIN1 were changed from Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:05:44.485485+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:04:29.777988+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2722","user_name":"Krithika Murali","item_type":"entity","text":"gene: ASTN1 was added\ngene: ASTN1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASTN1 were set to 29706646; 11861479\nPhenotypes for gene: ASTN1 were set to Polymicrogyria; hypoplastic corpus callosum\nReview for gene: ASTN1 was set to AMBER\nAdded comment: No OMIM gene disease association.  No updated evidence since previous PanelApp review April 2020.\r\n\r\nPMID 29706646 - Wiszniewski et al 2018 - genomic analysis of individuals with disorders of cortical development. Identified one individual with compound het ASTN1 variants with diffuse polymicrogyria, spastic tetraplegia, epilepsy and developmental delay. Second consanguineous family with two sisters with homozygous missense variant in ASTN1 had hypoplastic corpus callosum.  \r\n\r\nAnimal model demonstrates abnormal neuronal migration in Astn1-/- deficient mice (PMID 11861479). \nSources: Literature","entity_name":"ASTN1","entity_type":"gene"},{"created":"2022-01-24T17:04:04.318148+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2722","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NECTIN1 as ready","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:04:04.300097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2722","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:03:53.239526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NECTIN1 were changed from Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 to Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060; Zlotogora-Ogur syndrome","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:03:14.154427+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2721","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NECTIN1 were set to ","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:03:01.797759+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2720","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NECTIN1 as Green List (high evidence)","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:03:01.786402+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:02:36.393131+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10764","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NECTIN1 as ready","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:02:36.381483+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10764","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:02:27.473937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10764","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NECTIN1 were changed from  to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T17:01:55.185279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10763","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NECTIN1 were set to ","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T16:59:41.184636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10762","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NECTIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2022-01-24T16:56:35.215087+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2719","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB11 were changed from Mitochondrial complex I deficiency, nuclear type 30 MIM#301021 to Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952)","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:55:25.644752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2718","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB11 as ready","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:55:25.633170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb11 has been classified as Green List (High Evidence).","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:55:21.887122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2718","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB11 were changed from MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME to Mitochondrial complex I deficiency, nuclear type 30 MIM#301021","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:55:05.931906+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2717","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB11 were set to ","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:54:36.973910+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2716","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFB11 as Green List (high evidence)","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:54:36.963626+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2716","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb11 has been classified as Green List (High Evidence).","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2022-01-24T16:53:59.125475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2715","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGLU as ready","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:59.114751+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2715","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naglu has been classified as Red List (Low Evidence).","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:53.400477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2715","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAGLU were changed from MUCOPOLYSACCHARIDOSIS TYPE 3B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:40.403216+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2714","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAGLU were set to ","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:28.227968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2713","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAGLU as Red List (low evidence)","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:28.217050+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naglu has been classified as Red List (Low Evidence).","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:53:14.400984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: None","entity_name":"NAGLU","entity_type":"gene"},{"created":"2022-01-24T16:52:09.225486+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Krithika Murali","item_type":"entity","text":"gene: PDE3A was added\ngene: PDE3A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE3A were set to 25961942\nPhenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome - #112410\nReview for gene: PDE3A was set to GREEN\nAdded comment: Well-established association with hypertension and brachydactyly.  Brachydactyly may be detectable antenatally. \nSources: Literature","entity_name":"PDE3A","entity_type":"gene"},{"created":"2022-01-24T16:49:58.063991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Phenotypes: 10339581, 18344557, 21559944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"HYAL1","entity_type":"gene"},{"created":"2022-01-24T16:42:54.400749+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Krithika Murali","item_type":"entity","text":"gene: FMN1 was added\ngene: FMN1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FMN1 were set to 20610440; 19383632; 15202026\nPhenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects\nReview for gene: FMN1 was set to AMBER\nAdded comment: No OMIM gene-disease association.  No additional evidence since last review of this gene in Sep 2021.  \r\n\r\nPMID 20610440 - a 263 Kb homozygous deletion of FMN1 reported in an individual with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Supporting null mouse model with oligosyndactyly.  A  large duplication including FMN1 and GREM1 reported in another individual with Cenani–Lenz syndrome. \nSources: Literature","entity_name":"FMN1","entity_type":"gene"},{"created":"2022-01-24T16:41:59.910905+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"HSD17B10","entity_type":"gene"},{"created":"2022-01-24T16:38:39.944807+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGR2 as ready","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:38:39.911967+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:38:35.127028+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGR2 as Green List (high evidence)","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:38:35.117747+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:38:04.007748+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGR2 was added\ngene: AGR2 was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGR2 were set to 34952832\nPhenotypes for gene: AGR2 were set to CF-like disorder\nReview for gene: AGR2 was set to GREEN\nAdded comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. \nSources: Literature","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:36:40.652233+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGR2 as ready","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:36:40.638719+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:36:04.359054+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGR2 as Green List (high evidence)","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:36:04.348643+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:34:06.801955+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGR2 was added\ngene: AGR2 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGR2 were set to 34952832\nPhenotypes for gene: AGR2 were set to CF-like disorder\nReview for gene: AGR2 was set to GREEN\nAdded comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. \nSources: Literature","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:33:32.707592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGR2 as ready","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:33:32.694054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:33:06.072186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10761","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGR2 as Green List (high evidence)","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:33:06.058902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agr2 has been classified as Green List (High Evidence).","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:32:27.633834+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HPGD: Rating: RED; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"HPGD","entity_type":"gene"},{"created":"2022-01-24T16:32:02.357942+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10760","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AGR2 was added\ngene: AGR2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGR2 were set to 34952832\nPhenotypes for gene: AGR2 were set to CF-like disorder\nReview for gene: AGR2 was set to GREEN\nAdded comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. \nSources: Literature","entity_name":"AGR2","entity_type":"gene"},{"created":"2022-01-24T16:31:38.943985+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2712","user_name":"Krithika Murali","item_type":"entity","text":"gene: FAT1 was added\ngene: FAT1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAT1 were set to 30862798; 26905694; 34202629; 34013115; 33418956; 32902815\nPhenotypes for gene: FAT1 were set to multiple congenital anomalies; nephropathy; ocular anomalies; hand and foot anomalies\nReview for gene: FAT1 was set to GREEN\nAdded comment: No OMIM gene-disease association, but multiple affected individuals from unrelated families reported with biallelic FAT1 variants and syndromic features consisting of ocular anomalies, hand/foot malformations and nephropathy.  Although diagnosis antenatally not yet reported, some phenotypic features are detectable antenatally.\r\n\r\nPMID: 30862798 Larouchi et al 2019 - homozygous frameshift FAT1 variants identified in 10 affected individuals from 5 unrelated consanguineous families.  The patients presented with syndromic features including ocular anomalies (ptosis, microphthalmia, coloboma, amblyopia), nephropathy (FSGS, proteinuria, haematuria), toe syndactyly and facial dysmorphism.  Animal models showing that deletion of Fat1 leads to coloboma in mouse and zebrafish.\r\n\r\nPMID 26905694 Gee et al 2016 – report recessive mutations in FAT1 in four unrelated consanguineous families with a combination of steroid-resistant nephrotic syndrome, tubular ectasia, haematuria and variable neurodevelopmental findings such ID, polymicrogyria and hydrocephalus. X1 child with pulmonary stenosis.\r\n\r\nPMID: 34202629 Peluso et al 2021 – Homozygous FAT1 frameshift variant NM_005245.4:c.9729del identified in a child of consanguineous parents with bilateral anophthalmia and hand/foot malformations including - right split foot with 4 toes, 5 metacarpals, second toe duplication and preaxial polydactyly on the right hand.  Patient also had congenital heart defects including VSD, ASD and bicuspid aortic valve.  Proband also had a microarray which detected a maternally inherited 350 kb 15q26.3 duplication including OMIM morbid gene CERS3 (AR condition) and part of the OMIM morbid gene ADAMTS17 (AR condition). Mother healthy, CNV unrelated to patient’s phenotype.\r\n\r\nPMID: 34013115 Fabretti et al 2021 – report 4 patients with biallelic FAT1 variants from 3 unrelated families with syndactyly, ophthalmologic and renal phenotype consistent with previously reported cases. \r\n\r\nPMID: 33418956 Haug et al 2021 - Genetic analysis showed that proband with phenotypic features consistent with other reported cases was compound heterozygous for a frameshift FAT1 variant and 1.8Mb 4q35.2 del including FAT1. \r\n\r\nPMID: 32902815 Rossanti et al 2021 – Biallelic FAT1 variants reported in a child with isolated mild proteinuria and no syndromic features \nSources: Literature","entity_name":"FAT1","entity_type":"gene"}]}