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Intellectual disability v11.75 ZNF148 Ida Ertmanska changed review comment from: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from an affected parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), recurrent or severe infections (11/24), limb anomalies (18/25 - relatively mild: deep palmar creases, limited joint mobility, short hands and feet, pes planus), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).; to: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from an affected parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), short stature <3pct (16/26), recurrent or severe infections (11/24), limb anomalies (18/25 - relatively mild: deep palmar creases, limited joint mobility, short hands and feet, pes planus), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).
Intellectual disability v11.75 ZNF148 Ida Ertmanska changed review comment from: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from a parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), recurrent or severe infections (11/24), limb anomalies (18/25 - relatively mild: deep palmar creases, limited joint mobility, short hands and feet, pes planus), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).; to: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from an affected parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), recurrent or severe infections (11/24), limb anomalies (18/25 - relatively mild: deep palmar creases, limited joint mobility, short hands and feet, pes planus), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).
Intellectual disability v11.75 ZNF148 Ida Ertmanska commented on gene: ZNF148: Comment on list classification: There are now 27 unrelated individuals reported in literature with heterozygous ZNF148 variants and a syndromic neurodevelopmental disorder. Intellectual disability was the most consistent feature among all patients. Hence, ZNF148 can now be promoted to Green on this panel.
Intellectual disability v11.75 ZNF148 Ida Ertmanska changed review comment from: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from a parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), recurrent or severe infections (11/24), limb anomalies (18/25), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).; to: PMID: 37580113 Szakszon et al., 2024
Report of 22 previously unreported individuals with heterozygous ZNF148 variants and developmental delay (particularly speech development), postnatal growth retardation, microcephaly and facial dysmorphism. 2 variants were inherited from a parent, otherwise de novo.
Phenotypic spectrum of all 27 reported individuals: microcephaly <3pct (12/25), recurrent or severe infections (11/24), limb anomalies (18/25 - relatively mild: deep palmar creases, limited joint mobility, short hands and feet, pes planus), intellectual disability (23/25, severity not stated), corpus callosum hypoplasia (7/19), and other more variable features.
25/27 individuals harboured a variant in exon 9 of ZNF148; 22/24 were confirmed to be de novo.

PMID: 36444493 Miao et al., 2023
Report of a male patient with intellectual disability, ASD, and ADHD. The patient had a de novo het variant c.1818dupC (p.Lys607Glnfs*11) in ZNF148. His WISC-R Intelligence test at 7 yrs 11 months showed IQ total of below 46 (moderate ID). NO microcephaly or callosal developmental abnormalities present.

ZNF148 is associated with AD Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260 in OMIM (accessed 2nd Nov 2026).
Intellectual disability v11.75 ZNF148 Ida Ertmanska Phenotypes for gene: ZNF148 were changed from Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260; global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, MONDO:0014994
Intellectual disability v11.74 ZNF148 Ida Ertmanska Publications for gene: ZNF148 were set to 27964749
Intellectual disability v11.73 ZNF148 Ida Ertmanska Mode of inheritance for gene: ZNF148 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v11.72 ZNF148 Ida Ertmanska Tag Q4_26_promote_green tag was added to gene: ZNF148.
Intellectual disability v11.72 ZNF148 Ida Ertmanska reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: None; Publications: 36444493, 37580113; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, OMIM:617260, global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, MONDO:0014994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.485 ZNF148 Arina Puzriakova reviewed gene: ZNF148: Rating: AMBER; Mode of pathogenicity: None; Publications: 27964749; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.3 ZNF148 Zornitza Stark reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: None; Publications: 27964749; Phenotypes: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability ZNF148 BRIDGE consortium edited their review of ZNF148
Intellectual disability ZNF148 Louise Daugherty classified ZNF148 as amber
Intellectual disability ZNF148 Louise Daugherty commented on ZNF148
Intellectual disability ZNF148 BRIDGE consortium reviewed ZNF148