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Holoprosencephaly v2.23 RAD21 Arina Puzriakova Tag Q3_21_rating tag was added to gene: RAD21.
Holoprosencephaly v2.23 RAD21 Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence)
Holoprosencephaly v2.23 RAD21 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed with or without overt features of CdLS. Sufficient to rate this gene as Green at the next GMS panel update.
Holoprosencephaly v2.23 RAD21 Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.22 RAD21 Arina Puzriakova Added comment: Comment on publications: PMID: 32696056 (2020) - fourth unrelated individual reported presenting holoprosencephaly associated with a heterozygous RAD21 LoF variant
Holoprosencephaly v2.22 RAD21 Arina Puzriakova Publications for gene: RAD21 were set to 31334757
Holoprosencephaly v2.21 RAD21 Arina Puzriakova Phenotypes for gene: RAD21 were changed from Holoprosencephaly; Septo-optic dysplasia to Cornelia de Lange syndrome 4, OMIM:614701; Holoprosencephaly with or without CdLS features; Septo-optic dysplasia
Holoprosencephaly v2.20 KMT2D Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2D.
Holoprosencephaly v2.20 KMT2D Arina Puzriakova Classified gene: KMT2D as Amber List (moderate evidence)
Holoprosencephaly v2.20 KMT2D Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed in the absence of overtly obvious features of Kabuki syndrome. Sufficient to rate this gene as Green at the next GMS panel update.
Holoprosencephaly v2.20 KMT2D Arina Puzriakova Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.19 KMT2D Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, OMIM:147920
Holoprosencephaly v2.18 DISP1 Sarah Leigh Phenotypes for gene: DISP1 were changed from Holoprosencephaly to holoprosencephaly MONDO:0016296
Holoprosencephaly v2.17 DISP1 Sarah Leigh reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly v2.17 DISP1 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: DISP1.
Holoprosencephaly v2.17 DISP1 Sarah Leigh Publications for gene: DISP1 were set to 27363716
Holoprosencephaly v2.16 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly v2.16 PLCH1 Arina Puzriakova Classified gene: PLCH1 as Amber List (moderate evidence)
Holoprosencephaly v2.16 PLCH1 Arina Puzriakova Added comment: Comment on list classification: Two unrelated families reported in PMID:33820834 with a holoprosencephaly spectrum phenotype associated with biallelic PLCH1 variants. Rating Amber, awaiting further cases.
Holoprosencephaly v2.16 PLCH1 Arina Puzriakova Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.15 PLCH1 Arina Puzriakova gene: PLCH1 was added
gene: PLCH1 was added to Holoprosencephaly. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Severe developmental delay; Brain malformations; Holoprosencephaly spectrum
Review for gene: PLCH1 was set to AMBER
Added comment: PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.

- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.

Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Holoprosencephaly v2.14 STAG2 Sarah Leigh Tag for-review tag was added to gene: STAG2.
Holoprosencephaly v2.14 STAG2 Sarah Leigh edited their review of gene: STAG2: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in unrelated cases, together with supporting in situ and functional evidence (PMID 31334757).; Changed rating: GREEN; Changed publications: 31334757
Holoprosencephaly v2.14 STAG2 Sarah Leigh Classified gene: STAG2 as Amber List (moderate evidence)
Holoprosencephaly v2.14 STAG2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Holoprosencephaly v2.14 STAG2 Sarah Leigh Gene: stag2 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.13 STAG2 Sarah Leigh Phenotypes for gene: STAG2 were changed from holoprosencephaly to Holoprosencephaly 13, X-linked OMIM:301043
Holoprosencephaly v2.12 SMC1A Arina Puzriakova Tag for-review tag was added to gene: SMC1A.
Holoprosencephaly v2.12 SMC1A Arina Puzriakova Classified gene: SMC1A as Amber List (moderate evidence)
Holoprosencephaly v2.12 SMC1A Arina Puzriakova Added comment: Comment on list classification: New gene added by external reviewer. At least 6 unrelated females with holoprosencephaly, mostly commonly semi-lobar type, associated with de novo variants in this gene (PMIDs: 28166369 and 31334757). Likely represents the severe end of the spectrum of SMC1A-related disorders.

Sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag)
Holoprosencephaly v2.12 SMC1A Arina Puzriakova Gene: smc1a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.11 SMC1A Arina Puzriakova Publications for gene: SMC1A were set to PMID: 31334757
Holoprosencephaly v2.10 SMC1A Arina Puzriakova Phenotypes for gene: SMC1A were changed from holoprosencephaly; single central incisor to Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Holoprosencephaly v2.9 HS2ST1 Ivone Leong changed review comment from: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum (2/3), skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene should be considered for Green gene rating status at the next review.
Sources: Literature; to: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum (2/3), skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene has been given an Amber review.
Holoprosencephaly v2.9 HS2ST1 Ivone Leong Classified gene: HS2ST1 as Amber List (moderate evidence)
Holoprosencephaly v2.9 HS2ST1 Ivone Leong Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.8 HS2ST1 Ivone Leong gene: HS2ST1 was added
gene: HS2ST1 was added to Holoprosencephaly. Sources: Literature
watchlist tags were added to gene: HS2ST1.
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies
Review for gene: HS2ST1 was set to AMBER
Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum (2/3), skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene should be considered for Green gene rating status at the next review.
Sources: Literature
Holoprosencephaly v2.7 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Holoprosencephaly. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31846209; 31282990; 32773771
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: Three case reports of HPE in Kabuki syndrome. Association also observed by us internally, PMID 32773771, supplementary info.
Sources: Literature
Holoprosencephaly v2.7 PPP1R12A Arina Puzriakova Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome, 618820
Holoprosencephaly v2.6 PPP1R12A Arina Puzriakova Tag watchlist tag was added to gene: PPP1R12A.
Holoprosencephaly v2.6 PPP1R12A Arina Puzriakova Classified gene: PPP1R12A as Amber List (moderate evidence)
Holoprosencephaly v2.6 PPP1R12A Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further publications/clinical evidence as currently only two cases reported (added to watchlist).
Holoprosencephaly v2.6 PPP1R12A Arina Puzriakova Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v2.5 PPP1R12A Arina Puzriakova reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883643; Phenotypes: Genitourinary and/or/brain malformation syndrome, 618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Holoprosencephaly v2.5 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Holoprosencephaly. Sources: Literature
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 31334757
Phenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia
Review for gene: RAD21 was set to GREEN
gene: RAD21 was marked as current diagnostic
Added comment: Three individuals reported with variants in this gene and HPE phenotype
Sources: Literature
Holoprosencephaly v2.5 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Holoprosencephaly. Sources: Expert list
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development
Review for gene: PPP1R12A was set to GREEN
gene: PPP1R12A was marked as current diagnostic
Added comment: 12 individuals reported.
Sources: Expert list
Holoprosencephaly v2.5 STAG2 Shane Mckee gene: STAG2 was added
gene: STAG2 was added to Holoprosencephaly. Sources: Other
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to PMID: 31334757
Phenotypes for gene: STAG2 were set to holoprosencephaly
Penetrance for gene: STAG2 were set to Incomplete
Review for gene: STAG2 was set to GREEN
Added comment: Loss of function mutations in females leading to holoprosencephaly and linked midline brain disorders as per Kruszka et al
Sources: Other
Holoprosencephaly v2.5 SMC1A Shane Mckee gene: SMC1A was added
gene: SMC1A was added to Holoprosencephaly. Sources: Other
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SMC1A were set to PMID: 31334757
Phenotypes for gene: SMC1A were set to holoprosencephaly; single central incisor
Penetrance for gene: SMC1A were set to Incomplete
Review for gene: SMC1A was set to GREEN
Added comment: Cohesin complex genes SMC1A, STAG4 etc need added to the panel; loss of function mutations in females (X-linked dominant)
Sources: Other
Holoprosencephaly v2.4 Catherine Snow Panel version has been signed off
Holoprosencephaly v2.1 Ellen McDonagh List of related panels changed from Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; R85 to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; R85
Holoprosencephaly v2.0 Louise Daugherty promoted panel to version 2.0
Holoprosencephaly v1.24 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Holoprosencephaly v1.23 Louise Daugherty List of related panels changed from Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; R85
Holoprosencephaly v1.22 CNOT1 Louise Daugherty Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; pancreatic agenesis and holoprosencephaly syndrome
Holoprosencephaly v1.21 DHCR7 Louise Daugherty Source NHS GMS was added to DHCR7.
Holoprosencephaly v1.21 SMAD2 Louise Daugherty Source NHS GMS was added to SMAD2.
Holoprosencephaly v1.21 NODAL Louise Daugherty Source NHS GMS was added to NODAL.
Holoprosencephaly v1.21 GCM2 Louise Daugherty Source NHS GMS was added to GCM2.
Holoprosencephaly v1.21 FOXH1 Louise Daugherty Source NHS GMS was added to FOXH1.
Holoprosencephaly v1.21 SUFU Louise Daugherty Source NHS GMS was added to SUFU.
Holoprosencephaly v1.21 DLL1 Louise Daugherty Source NHS GMS was added to DLL1.
Holoprosencephaly v1.21 CNOT1 Louise Daugherty Source NHS GMS was added to CNOT1.
Holoprosencephaly v1.21 ZIC2 Louise Daugherty Source NHS GMS was added to ZIC2.
Holoprosencephaly v1.21 TGIF1 Louise Daugherty Source NHS GMS was added to TGIF1.
Holoprosencephaly v1.21 SIX3 Louise Daugherty Source NHS GMS was added to SIX3.
Holoprosencephaly v1.21 SHH Louise Daugherty Source NHS GMS was added to SHH.
Holoprosencephaly v1.21 PTCH1 Louise Daugherty Source NHS GMS was added to PTCH1.
Holoprosencephaly v1.21 GLI2 Louise Daugherty Source NHS GMS was added to GLI2.
Holoprosencephaly v1.21 FGFR1 Louise Daugherty Source NHS GMS was added to FGFR1.
Holoprosencephaly v1.21 FGF8 Louise Daugherty Source NHS GMS was added to FGF8.
Holoprosencephaly v1.21 DISP1 Louise Daugherty Source NHS GMS was added to DISP1.
Holoprosencephaly v1.21 CDON Louise Daugherty Source NHS GMS was added to CDON.
Holoprosencephaly v1.20 SMAD2 Louise Daugherty commented on gene: SMAD2
Holoprosencephaly v1.20 NODAL Louise Daugherty commented on gene: NODAL
Holoprosencephaly v1.20 GCM2 Louise Daugherty commented on gene: GCM2
Holoprosencephaly v1.20 FOXH1 Louise Daugherty commented on gene: FOXH1
Holoprosencephaly v1.20 CNOT1 Louise Daugherty commented on gene: CNOT1
Holoprosencephaly v1.20 ZIC2 Louise Daugherty commented on gene: ZIC2
Holoprosencephaly v1.20 TGIF1 Louise Daugherty commented on gene: TGIF1
Holoprosencephaly v1.20 SIX3 Louise Daugherty commented on gene: SIX3: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Holoprosencephaly v1.20 SIX3 Louise Daugherty commented on gene: SIX3
Holoprosencephaly v1.20 SHH Louise Daugherty commented on gene: SHH
Holoprosencephaly v1.20 PTCH1 Louise Daugherty commented on gene: PTCH1
Holoprosencephaly v1.20 GLI2 Louise Daugherty commented on gene: GLI2
Holoprosencephaly v1.20 FGFR1 Louise Daugherty commented on gene: FGFR1
Holoprosencephaly v1.20 FGF8 Louise Daugherty commented on gene: FGF8
Holoprosencephaly v1.20 DISP1 Louise Daugherty commented on gene: DISP1
Holoprosencephaly v1.20 CDON Louise Daugherty commented on gene: CDON
Holoprosencephaly v1.20 DHCR7 Louise Daugherty Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly v1.20 DHCR7 Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly v1.20 DHCR7 Louise Daugherty Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly v1.20 DHCR7 Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly v1.19 DHCR7 Louise Daugherty Added comment: Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be Green
Holoprosencephaly v1.19 DHCR7 Louise Daugherty Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Holoprosencephaly v1.18 DHCR7 Louise Daugherty gene: DHCR7 was added
gene: DHCR7 was added to Holoprosencephaly. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: DHCR7 was set to AMBER
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp curation team added phenotype/MOI and publications to support Green review
Sources: Expert list
Holoprosencephaly v1.17 DLL1 Louise Daugherty reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly v1.17 SUFU Louise Daugherty Tag watchlist tag was added to gene: SUFU.
Holoprosencephaly v1.17 SUFU Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly v1.17 SUFU Louise Daugherty Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400
Holoprosencephaly v1.16 SUFU Louise Daugherty Publications for gene: SUFU were set to 27363716
Holoprosencephaly v1.15 DLL1 Louise Daugherty Publications for gene: DLL1 were set to 27363716; 21196490
Holoprosencephaly v1.13 CNOT1 Rebecca Foulger Tag watchlist tag was added to gene: CNOT1.
Holoprosencephaly v1.13 CNOT1 Rebecca Foulger commented on gene: CNOT1: Keep as amber on advice from Helen Brittain (Genomics England Clinical Fellow), and added watchlist tag; this might be a specific variant-related phenotype.
Holoprosencephaly v1.13 CNOT1 Rebecca Foulger Classified gene: CNOT1 as Amber List (moderate evidence)
Holoprosencephaly v1.13 CNOT1 Rebecca Foulger Added comment: Comment on list classification: Added to panel as an Amber gene based on the DD-G2P Disease confidence rating of 'probable' for 'pancreatic agenesis and holoprosencephaly syndrome'. Sufficient cases of holoprosencephaly from the literature in unrelated patients with the p.Arg535Cys variant (two/three in PMID:31006513, and two in PMID:31006510). But De Franco et al., 2019 (PMID:31006513) suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype since the DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none of them had holoprosencephaly or diabetes.
Holoprosencephaly v1.13 CNOT1 Rebecca Foulger Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly v1.12 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to Holoprosencephaly. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006513; 31006510
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other
Added comment: Added CNOT1 to the Holoprosencephaly panel based on recent (2019) literature evidence: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. Definite holoprosencephaly was recorded in 2 of the cases: P01 had Partial holoprosencephaly, PO2 had Semi-lobar holoprosencephaly, PO3 had dysmorphic features consistent with possible holoprosencephaly (prominent central incisors and occiput, highly arched palate, and low-set ears). All three individuals also had pancreatic agenesis. The variant occured de novo in at least two individuals (maternal DNA was unavailable for proband 1).

Kruszka et al., 2019 (PMID:31006510) applied WES to 134 trios with Holoprosencephaly, and identified two unrelated individuals with semilobar holoprosencephaly and the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Additional phenotypes include developmental delay and neonatal diabetes (in proband 1).

Not yet associated with a disorder in OMIM, but a new gene:disorder association for CNOT1 was added to DDG2P on 25/04/2019: pancreatic agenesis and holoprosencephaly syndrome. Disease confidence rating in DDG2P: probable. DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Sources: Literature
Holoprosencephaly v1.11 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Holoprosencephaly v1.10 Louise Daugherty List of related panels changed from Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; GMS R85 to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal
Holoprosencephaly v1.6 Ellen McDonagh List of related panels changed from Rhombencephalosynapsis to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; GMS R85
Holoprosencephaly v1.5 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Holoprosencephaly v1.4 Ellen McDonagh List of related panels changed from Rhombencephalosynapsis;Holoprosencephaly - NOT chromosomal to Rhombencephalosynapsis
Holoprosencephaly Helen Brittain promoted panel to version 1
Holoprosencephaly GCM2 Helen Brittain marked GCM2 as ready
Holoprosencephaly GCM2 Helen Brittain commented on GCM2
Holoprosencephaly FOXH1 Helen Brittain marked FOXH1 as ready
Holoprosencephaly FOXH1 Helen Brittain commented on FOXH1
Holoprosencephaly NODAL Helen Brittain marked NODAL as ready
Holoprosencephaly NODAL Helen Brittain commented on NODAL
Holoprosencephaly SMAD2 Helen Brittain marked SMAD2 as ready
Holoprosencephaly SMAD2 Helen Brittain commented on SMAD2
Holoprosencephaly SUFU Helen Brittain marked SUFU as ready
Holoprosencephaly SUFU Helen Brittain classified SUFU as amber
Holoprosencephaly SUFU Helen Brittain commented on SUFU
Holoprosencephaly DLL1 Helen Brittain marked DLL1 as ready
Holoprosencephaly DLL1 Helen Brittain classified DLL1 as amber
Holoprosencephaly DLL1 Helen Brittain commented on DLL1
Holoprosencephaly DISP1 Helen Brittain marked DISP1 as ready
Holoprosencephaly DISP1 Helen Brittain classified DISP1 as green
Holoprosencephaly DISP1 Helen Brittain commented on DISP1
Holoprosencephaly FGFR1 Helen Brittain marked FGFR1 as ready
Holoprosencephaly FGFR1 Helen Brittain classified FGFR1 as green
Holoprosencephaly FGFR1 Helen Brittain commented on FGFR1
Holoprosencephaly FGF8 Helen Brittain marked FGF8 as ready
Holoprosencephaly FGF8 Helen Brittain classified FGF8 as green
Holoprosencephaly FGF8 Helen Brittain commented on FGF8
Holoprosencephaly ZIC2 Helen Brittain marked ZIC2 as ready
Holoprosencephaly ZIC2 Helen Brittain commented on ZIC2
Holoprosencephaly ZIC2 Helen Brittain classified ZIC2 as green
Holoprosencephaly SIX3 Helen Brittain marked SIX3 as ready
Holoprosencephaly SIX3 Helen Brittain commented on SIX3
Holoprosencephaly SIX3 Helen Brittain classified SIX3 as green
Holoprosencephaly SHH Helen Brittain marked SHH as ready
Holoprosencephaly SHH Helen Brittain commented on SHH
Holoprosencephaly SHH Helen Brittain classified SHH as green
Holoprosencephaly CDON Helen Brittain marked CDON as ready
Holoprosencephaly CDON Helen Brittain classified CDON as green
Holoprosencephaly CDON Helen Brittain commented on CDON
Holoprosencephaly TGIF1 Helen Brittain marked TGIF1 as ready
Holoprosencephaly TGIF1 Helen Brittain commented on TGIF1
Holoprosencephaly PTCH1 Helen Brittain marked PTCH1 as ready
Holoprosencephaly PTCH1 Helen Brittain commented on PTCH1
Holoprosencephaly GLI2 Helen Brittain marked GLI2 as ready
Holoprosencephaly GLI2 Helen Brittain commented on GLI2
Holoprosencephaly SUFU Lara Menzies reviewed SUFU
Holoprosencephaly FGFR1 Lara Menzies reviewed FGFR1
Holoprosencephaly FGF8 Lara Menzies reviewed FGF8
Holoprosencephaly DLL1 Lara Menzies reviewed DLL1
Holoprosencephaly DISP1 Lara Menzies reviewed DISP1
Holoprosencephaly SMAD2 Lara Menzies reviewed SMAD2
Holoprosencephaly NODAL Lara Menzies reviewed NODAL
Holoprosencephaly GCM2 Lara Menzies reviewed GCM2
Holoprosencephaly FOXH1 Lara Menzies reviewed FOXH1
Holoprosencephaly ZIC2 Lara Menzies reviewed ZIC2
Holoprosencephaly SIX3 Lara Menzies reviewed SIX3
Holoprosencephaly SHH Lara Menzies reviewed SHH
Holoprosencephaly CDON Lara Menzies reviewed CDON
Holoprosencephaly TGIF1 Lara Menzies reviewed TGIF1
Holoprosencephaly PTCH1 Lara Menzies reviewed PTCH1
Holoprosencephaly GLI2 Lara Menzies reviewed GLI2
Holoprosencephaly DLL1 Richard Scott added DLL1 to panel
Holoprosencephaly DLL1 Richard Scott reviewed DLL1
Holoprosencephaly DISP1 Richard Scott added DISP1 to panel
Holoprosencephaly DISP1 Richard Scott reviewed DISP1
Holoprosencephaly FGF8 Richard Scott added FGF8 to panel
Holoprosencephaly FGF8 Richard Scott reviewed FGF8
Holoprosencephaly SUFU Richard Scott added SUFU to panel
Holoprosencephaly SUFU Richard Scott reviewed SUFU
Holoprosencephaly FGFR1 Richard Scott added FGFR1 to panel
Holoprosencephaly FGFR1 Richard Scott reviewed FGFR1