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Mendeliome v2.47 PAM chirag patel Marked gene: PAM as ready
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.47 PAM chirag patel Classified gene: PAM as Amber List (moderate evidence)
Mendeliome v2.47 PAM chirag patel Gene: pam has been classified as Amber List (Moderate Evidence).
Mendeliome v2.46 PAM chirag patel gene: PAM was added
gene: PAM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAM were set to 37388215
Phenotypes for gene: PAM were set to Pituitary gland adenoma MONDO:0006373
Review for gene: PAM was set to AMBER
Added comment: PMID 37388215 reports 7 individuals from 5 unrelated families with heterozygous loss-of-function PAM variants causing pituitary hypersecretion (3 x childhood‑onset gigantism or adult acromegaly, 2 x paediatric ACTH‑dependent Cushing disease). All variants (3 x missense, 1 x frameshift, 1 x 5'UTR) were rare and shown to be loss of function using protein expression and trafficking by Western blotting, splicing by minigene assays, and amidation activity in cell lysates and serum samples.
Sources: Literature
Mendeliome v1.4509 ADIPOR1 Zornitza Stark edited their review of gene: ADIPOR1: Added comment: PMID 33523960 reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin.; Changed publications: 27655171, 26662040, 33523960; Changed phenotypes: Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related, Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related
Mendeliome v1.4348 EPG5 Zornitza Stark edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy.

PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506
Mendeliome v1.3299 THAP4 Zornitza Stark gene: THAP4 was added
gene: THAP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: THAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP4 were set to 40949908
Phenotypes for gene: THAP4 were set to Congenital pulmonary airway malformation, MONDO:0016580, THAP4-related
Review for gene: THAP4 was set to RED
Added comment: Single individual with a missense variant reported in a CPAM cohort.
Sources: Literature
Mendeliome v1.3298 ALDH1B1 Zornitza Stark gene: ALDH1B1 was added
gene: ALDH1B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALDH1B1 were set to 40988636
Phenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related
Review for gene: ALDH1B1 was set to RED
Added comment: Single individual with missense variant reported in a CPAM cohort.
Sources: Literature
Mendeliome v1.3297 MUC3A Zornitza Stark gene: MUC3A was added
gene: MUC3A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MUC3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC3A were set to 40949908
Phenotypes for gene: MUC3A were set to Congenital pulmonary airway malformation, MONDO:0016580, MUC3A-related
Review for gene: MUC3A was set to RED
Added comment: Three individuals with LoF variants identified in a CPAM cohort. However, all three variants are present in gnomAD, one of them in over 1500 individuals.
Sources: Literature
Mendeliome v1.2135 SLC18A2 Sangavi Sivagnanasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008459; Phenotypes: brain dopamine-serotonin vesicular transport disease MONDO:0018130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2017 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Mendeliome v1.2016 PSTPIP1 Zornitza Stark edited their review of gene: PSTPIP1: Changed phenotypes: Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979, Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Mendeliome v1.1973 REPS2 Mark Cleghorn gene: REPS2 was added
gene: REPS2 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021
Penetrance for gene: REPS2 were set to unknown
Review for gene: REPS2 was set to AMBER
Added comment: REPS2
Hao Hu, Guangzhou Women and Children’s MC
ESHG talk 1/6/24, unpublished

Proposed X-linked cerebral palsy + NDD gene

4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited
Phenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS
Variants described:
c.1050_1052delGAA;p.K351del
c.1040T>C; p.I347T
c.962C>G; p.S321C
c.1736delA; p.N579Tfs*17

In vitro assay of above 4 variants suggest reduced REPS2 protein stability
Zebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology
Mouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination
Mechanism may relate to dopamine signalling?
Sources: Other
Mendeliome v1.576 TRA2B Elena Savva gene: TRA2B was added
gene: TRA2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRA2B were set to PMID: 36549593
Phenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)
Review for gene: TRA2B was set to GREEN
Added comment: PMID: 36549593
- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12
- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.
- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.
- DN mechanism suggested
Sources: Literature
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Mendeliome v0.12949 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12583 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Mendeliome v0.12583 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Mendeliome v0.12583 PAM16 Zornitza Stark Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Mendeliome v0.12582 PAM16 Zornitza Stark Publications for gene: PAM16 were set to
Mendeliome v0.12581 PAM16 Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12561 PAM16 Krithika Murali reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10276 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Mendeliome v0.10276 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Mendeliome v0.10276 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319
Mendeliome v0.10275 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.10274 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3889 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Mendeliome v0.3886 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PAM16 Zornitza Stark gene: PAM16 was added
gene: PAM16 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAM16 was set to Unknown
Mendeliome v0.0 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPAMD8 was set to Unknown